Mut - SNV Details



 Human Rare Diseases 
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Vitamin B12-unresponsive methylmalonic acidemia type mut-

 Gene Information 
Gene Name Mut
Old Gene Names for Mut D230010k02rik
Gene Description methylmalonyl-Coenzyme A mutase [Source:MGI Symbol;Acc:MGI:97239]
MGI phenotype Homozygous mutant mice die within 1 day of birth exhibiting symptoms similar to those observed in patients with methylmalonic aciduria.
Uniprot Name
CCDS Name
Gene GO
mitochondrion; homocysteine metabolic process; methylmalonyl-CoA mutase activity; catalytic activity; metal ion binding; intramolecular transferase activity; metabolic process; post-embryonic development; cobalamin binding; mitochondrial matrix; isomerase activity; modified amino acid binding
Homolog in other species MUT
Omim http://omim.org/entry/609058
Immgen Expression
MEDIAN(LOW IN GN.BM)
Gnf Expression
LOW
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000023921
Chromosome 17
Coordinate 40,938,817     (Assembly: GRCm38)    
Ref Base A
Codon Change Act/Gct
Var Base G
Zygosity Heterozygous
Read Depth 32
Allele Frequency
A:R0.47
G:V0.53
Amino Acid Position 228
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02141
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000130941:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Cobalamin (vitamin B12)-dependent enzyme, catalytic Cbl-dep_enz_cat IPR016176 ENSMUSP00000130941 Superfamily 25
575 Description available Search pathways
Methylmalonyl-CoA mutase, alpha/beta chain, catalytic MeMalonylCoA_mutase_a/b_cat IPR006099 ENSMUSP00000130941 Pfam 59
574 Description available Search pathways
Methylmalonyl-CoA mutase, alpha chain, catalytic MMCoA_mutase_a_cat IPR006098 ENSMUSP00000130941 TIGRfam 59
580 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved