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|Institutional Source||Beutler Lab|
|Gene Name||acyl-CoA synthetase short-chain family member 1|
|Synonyms||Acas2l, Acas2, 1110032O15Rik, AceCS2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8213 (G1)|
|Chromosomal Location||150618105-150668500 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 150619710 bp|
|Amino Acid Change||Aspartic acid to Valine at position 651 (D651V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028944 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028944]|
|Predicted Effect||possibly damaging
AA Change: D651V
PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: D651V
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice with disruptions in this gene display abnormalities in acetate metabolism. Ability to maintain body temperature under fasting conditions is reduced. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acss1||
(F):5'- GCTTCAGCTTCAAATAGGGC -3'
(R):5'- TCCTCTGTGGGAGTGTCAAC -3'
(F):5'- CTTCAGCTTCAAATAGGGCAGTAG -3'
(R):5'- TGGGAGTGTCAACCTCCACAG -3'