|Institutional Source||Beutler Lab|
|Gene Name||glycerol-3-phosphate acyltransferase, mitochondrial|
|Is this an essential gene?||Probably non essential (E-score: 0.209)|
|Stock #||R5183 (G1)|
|Chromosomal Location||55069734-55099451 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 55083227 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 361 (E361K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057635 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061856]|
|Predicted Effect||probably damaging
AA Change: E361K
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: E361K
|Meta Mutation Damage Score||0.326|
|Coding Region Coverage||
|Validation Efficiency||99% (73/74)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gpam||
(F):5'- CAGGCTTCCCTAAAATTCACAG -3'
(R):5'- TTGAACTCCTCCGACAGCAG -3'
(F):5'- GGCTTCCCTAAAATTCACAGGTAATC -3'
(R):5'- AGCAGCAGTTCCTGGAGATCTTC -3'