|Institutional Source||Beutler Lab|
|Gene Name||acyl-CoA thioesterase 7|
|Synonyms||2410041A17Rik, Bach, AU014716|
|Is this an essential gene?||Probably non essential (E-score: 0.149)|
|Stock #||R6633 (G1)|
|Chromosomal Location||152178134-152271855 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 152178259 bp|
|Amino Acid Change||Proline to Leucine at position 30 (P30L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000074827 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075363]|
|Predicted Effect||probably benign
AA Change: P30L
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: P30L
|Meta Mutation Damage Score||0.1628|
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a floxed allele activated in neurons exhibit abnormal glucose and lipid homeostasis, altered metabolism, increaased adiposity, decreased lean mass, progressive neurodegeneration, and neurological defects in aged mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acot7||
(F):5'- AACCTTCTGGAAGCGGAGTC -3'
(R):5'- AGTGTCCTCAAAACTGCGGC -3'
(F):5'- TGGAAGCGGAGTCCCACAG -3'
(R):5'- TACAGAATCCTGGGCCTGAGTC -3'