About   Help   FAQ
Mut Gene Detail
Summary
  • Symbol
    Mut
  • Name
    methylmalonyl-Coenzyme A mutase
  • Synonyms
    D230010K02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:97239
    NCBI Gene: 17850
  • Gene Overview
    MyGene.info: MUT
Location & Maps
more
  • Sequence Map
    Chr17:40934685-40961989 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27305 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 19.55 cM, cytoband C-D
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    MUT, methylmalonyl-CoA mutase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MUT, methylmalonyl-CoA mutase
    Orthology source: HomoloGene
  • Synonyms
    MCM
  • Links
    NCBI Gene ID: 4594
    neXtProt AC: NX_P22033

  • Chr Location
    6p12.3; chr6:49430360-49463328 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Mut mouse models; 1 with human MUT associations

Human Disease Mouse Models
       Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency   OMIM: 251000 View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    45 phenotypes from 3 alleles in 5 genetic backgrounds
    10 phenotypes from multigenic genotypes
    3 images
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Gene trapped
    4
  • Targeted
    3
  • Transgenic
    3
  • Incidental Mutations
Homozygous mutant mice die within 1 day of birth exhibiting symptoms similar to those observed in patients with methylmalonic aciduria.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    366 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000010782 methylmalonyl-CoA mutase, mitochondrial
  • EC
  • InterPro Domains
    IPR006158 Cobalamin (vitamin B12)-binding domain
    IPR016176 Cobalamin (vitamin B12)-dependent enzyme, catalytic
    IPR014348 Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain
    IPR006099 Methylmalonyl-CoA mutase, alpha/beta chain, catalytic
    IPR006098 Methylmalonyl-CoA mutase, alpha chain, catalytic
    IPR006159 Methylmalonyl-CoA mutase, C-terminal
Molecular
Reagents
less
  • All nucleic 93
    Genomic 3
    cDNA 89
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-12719, MGI:2441954
References
more
  • Summaries
    All 43
    Developmental Gene Expression 2
    Diseases 5
    Gene Ontology 6
    Phenotypes 11
  • 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:220387 Chandler RJ, et al., Vector design influences hepatic genotoxicity after adeno-associated virus gene therapy. J Clin Invest. 2015 Feb;125(2):870-80

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/17/2016
MGI 6.05
The Jackson Laboratory