|Institutional Source||Beutler Lab|
|Gene Name||acyl-CoA synthetase long-chain family member 5|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6821 (G1)|
|Chromosomal Location||55251938-55297720 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 55288836 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Threonine at position 417 (I417T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046585 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043150] [ENSMUST00000225963] [ENSMUST00000226103]|
AA Change: I417T
PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: I417T
|Coding Region Coverage||
|Validation Efficiency||97% (63/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit decreased mean bone mineral content and density measurements when compared with controls. A notably decreased mean platelet count is also observed. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acsl5||
(F):5'- GGTGATGGCTCCAATAGAAAGC -3'
(R):5'- GGGAGTTTTGGAACCCTGAC -3'
(F):5'- GGCTCCAATAGAAAGCATTTTAAGTG -3'
(R):5'- GGAACCCTGACTCCATTTATGTAAAG -3'