|Institutional Source||Beutler Lab|
|Gene Name||malonyl CoA:ACP acyltransferase (mitochondrial)|
|Is this an essential gene?||Possibly non essential (E-score: 0.398)|
|Stock #||R8306 (G1)|
|Chromosomal Location||83546797-83563787 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 83555391 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 99 (D99E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000051569 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061882]|
|Predicted Effect||probably damaging
AA Change: D99E
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: D99E
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a conditional allele activated ubiquitously consume more food, fail to gain weight, are less physically active, and suffer from loss of white adipose tissue, reduced muscle strength, kyphosis, alopecia, hypothermia and shortened lifespan. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mcat||
(F):5'- AGACTGAGGAACCCTGAGAC -3'
(R):5'- TTACTGGCTGCCTAGATGACC -3'
(F):5'- GAACCCTGAGACCCAGAAGG -3'
(R):5'- TGCCTAGATGACCCGACAG -3'