|Institutional Source||Beutler Lab|
|Gene Name||malonyl-CoA decarboxylase|
|Is this an essential gene?||Probably non essential (E-score: 0.092)|
|Stock #||R8194 (G1)|
|Chromosomal Location||119394878-119411102 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 119407593 bp|
|Amino Acid Change||Glutamic Acid to Valine at position 278 (E278V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000095970 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098367]|
|Predicted Effect||probably benign
AA Change: E278V
PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: E278V
|Meta Mutation Damage Score||0.3607|
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit altered cardiac metabolism following ischemia and improved recovery. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mlycd||
(F):5'- ACAGATGGCCTGAACCTGAG -3'
(R):5'- GTCTGCATCCCTGTGAGACATC -3'
(F):5'- TGGCCTGAACCTGAGCAACC -3'
(R):5'- TCCCTGTGAGACATCCCAGAGAG -3'