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Mut
Gene Detail
 Symbol
Name
ID
Mut
methylmalonyl-Coenzyme A mutase
MGI:97239
Synonyms D230010K02Rik
Feature Type protein coding gene
Genetic Map
Chromosome 17
19.55 cM, cytoband C-D
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr17:40934685-40961989 bp, + strand
From NCBI annotation of GRCm38

  27305 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20097  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: methylmalonyl-CoA mutase
Gene Tree: Mut

Human
homologs
Human Homolog MUT, methylmalonyl CoA mutase
NCBI Gene ID 4594
neXtProt AC  NX_P22033
Human Synonyms  MCM
Human Chr (Location)  6p12.3; chr6:49430360-49463328 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human MUT
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(4) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutant mice die within 1 day of birth exhibiting symptoms similar to those observed in patients with methylmalonic aciduria.
 
Human Diseases Modeled Using Mouse Mut (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Mut interacts with 191 markers (Mir1b, Mir10b, Mir16-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process homocysteine metabolic process, metabolic process, ...
Component mitochondrion
Function catalytic activity, cobalamin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (94)    Tissues (94)   
Theiler Stages: 22
Assay TypeResults
RNA in situ 94
cDNA source data(86)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(91) Genomic(3) cDNA(88)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000023921 (Evidence)
Entrez Gene17850 (Evidence)
UniGene259884
DFCITC1576065, TC1687305
DoTSDT.493366
NIA Mouse Gene IndexU017986
EC5.4.99.2
Consensus CDS ProjectCCDS37618.1
International Mouse Knockout Project StatusMut
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 17850 NCBI Gene Model | MGI Sequence Detail 27305 C57BL/6J ±  kb
transcript NM_008650 RefSeq | MGI Sequence Detail 3675 C57BL/6 
polypeptide P16332 UniProt | EBI | MGI Sequence Detail 748 Not Applicable 

For the selected sequences
All sequences(27) RefSeq(4) UniProt(5)
Polymorphisms RFLP(1) : SNPs within 2kb(367 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006158 Cobalamin (vitamin B12)-binding domain
InterPro IPR016176 Cobalamin (vitamin B12)-dependent enzyme, catalytic
InterPro IPR014348 Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain
InterPro IPR006099 Methylmalonyl-CoA mutase, alpha/beta chain, catalytic
InterPro IPR006098 Methylmalonyl-CoA mutase, alpha chain, catalytic
InterPro IPR006159 Methylmalonyl-CoA mutase, C-terminal
Protein Ontology PR:000010782 methylmalonyl-CoA mutase, mitochondrial
Graphical View of Protein Domain Structure
References (Earliest) J:10445 Sertic J, et al., Mapping of the L-methylmalonyl-CoA mutase gene to mouse chromosome 17. Genomics. 1990 Mar;6(3):560-4
(Latest) J:200689 Manoli I, et al., Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13552-7
All references(46)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-12719, MGI:2441954

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory