|Institutional Source||Beutler Lab|
|Gene Name||methylmalonyl-Coenzyme A mutase|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5031 (G1)|
|Chromosomal Location||40934685-40961989 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 40938827 bp|
|Amino Acid Change||Phenylalanine to Serine at position 231 (F231S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000130941 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087114] [ENSMUST00000169611]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: F231S
PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: F231S
|Meta Mutation Damage Score||0.8742|
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die within 1 day of birth exhibiting symptoms similar to those observed in patients with methylmalonic aciduria. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mut||
(F):5'- GCTGGAGTTGCTATTGACACTG -3'
(R):5'- CCATCTGAACTCTGAAGGGAAC -3'
(F):5'- TGCTATTGACACTGTAGAAGACACC -3'
(R):5'- CATCTGAACTCTGAAGGGAACTAAGG -3'