Mmut methylmalonyl-Coenzyme A mutase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mmutprovided by MGI
Official Full Name: methylmalonyl-Coenzyme A mutaseprovided by MGI
Primary source: MGI:MGI:97239
See related: Ensembl:ENSMUSG00000023921 AllianceGenome:MGI:97239
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mcm; Mut; D230010K02Rik
Summary: Enables methylmalonyl-CoA mutase activity. Involved in succinyl-CoA biosynthetic process. Acts upstream of or within post-embryonic development. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; lung; nervous system; and trophectoderm. Used to study methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. Human ortholog(s) of this gene implicated in methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. Orthologous to human MMUT (methylmalonyl-CoA mutase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in kidney adult (RPKM 18.8), liver E18 (RPKM 12.2) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 B2; 17 19.55 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (41245576..41272880)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (40934685..40961990)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Title: Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Promoterless, Nuclease-Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic Acidemia.
Title: Promoterless, Nuclease-Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic Acidemia.
We confirmed significant NH4(+) accumulation in culture media of Mut(-/-) aggregates, suggesting that intracellular NH4(+) concentrations might even be higher, gave first clues on the mechanisms leading to NH4(+) accumulation in Mut(-/-) brain cells, and showed the involvement of neuroinflammatory processes in the neuropathophysiology of Methylmalonic aciduria .
Title: New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria.
On a high protein diet, mutant mice display disease exacerbation, including elevated blood ammonia, and catastrophic weight loss, which, in Mut(ki/ki) mice, is rescued by hydroxocobalamin treatment. This study expands knowledge of MMAuria, introduces the discovery of new biomarkers, and constitutes the first in vivo proof of principle of cobalamin treatment in mut-type MMAuria.
Title: Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
The mouse methylmalonic aciduria- related genes, Mmaa, Mmab, and Mut may have specialized functions depending on the tissue or cell type.
Title: The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis.
Includes the study of an upstream ORF in this gene, and shows that it functions to reduce protein levels by ~61%.
Title: Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.
Mitochondrial dysfunction in Mut is reported.
Title: Mitochondrial dysfunction in mut methylmalonic acidemia.
methylmalonyl-CoA mutase has a role in methylmalonic aciduria and early neonatal lethality
Title: A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (8) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase activity	ISO Inferred from Sequence Orthology more info
enables GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
enables cobalamin binding	IBA Inferred from Biological aspect of Ancestor more info
enables cobalamin binding	ISO Inferred from Sequence Orthology more info
enables cobalamin binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables methylmalonyl-CoA mutase activity	IBA Inferred from Biological aspect of Ancestor more info
enables methylmalonyl-CoA mutase activity	IDA Inferred from Direct Assay more info	PubMed
enables methylmalonyl-CoA mutase activity	ISO Inferred from Sequence Orthology more info
enables modified amino acid binding	IEA Inferred from Electronic Annotation more info
enables modified amino acid binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in homocysteine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in homocysteine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of GTPase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in propionate metabolic process, methylmalonyl pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in succinyl-CoA biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in mitochondrial matrix	ISO Inferred from Sequence Orthology more info
located_in mitochondrial matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: methylmalonyl-CoA mutase, mitochondrial

Names: methylmalonyl-CoA isomerase

NP_032676.2

EC 5.4.99.2

XP_017172780.1

EC 5.4.99.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008650.3 → NP_032676.2 methylmalonyl-CoA mutase, mitochondrial precursor

See identical proteins and their annotated locations for NP_032676.2

Status: VALIDATED

Source sequence(s)

AC121875, AC121932, AK012766, BY262299

Consensus CDS

CCDS37618.1

UniProtKB/Swiss-Prot

P16332, Q3UJU1

UniProtKB/TrEMBL

Q8VED0

Related

ENSMUSP00000130941.3, ENSMUST00000169611.4

Conserved Domains (3) summary

TIGR00640
Location:611 → 741

acid_CoA_mut_C; methylmalonyl-CoA mutase C-terminal domain

PRK09426
Location:39 → 739

PRK09426; methylmalonyl-CoA mutase; Reviewed

cd03679
Location:38 → 572

MM_CoA_mutase_alpha_like; Coenzyme B12-dependent-methylmalonyl coenzyme A (CoA) mutase (MCM) family, Alpha subunit-like subfamily; contains proteins similar to the alpha subunit of Propionbacterium shermanni MCM, as well as human and E. coli MCM. Members of this subfamily contain ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

41245576..41272880

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017317291.3 → XP_017172780.1 methylmalonyl-CoA mutase, mitochondrial isoform X1

Conserved Domains (1) summary

PRK09426
Location:1 → 489

PRK09426; methylmalonyl-CoA mutase; Reviewed