|Institutional Source||Beutler Lab|
|Gene Name||carnitine O-octanoyltransferase|
|Is this an essential gene?||Probably non essential (E-score: 0.092)|
|Stock #||R1846 (G1)|
|Chromosomal Location||8966033-8997324 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 8988248 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 93 (V93E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003720 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003720]|
Crystal Structure of Mouse Carnitine Octanoyltransferase [X-RAY DIFFRACTION]
Crystal structure of mouse carnitine octanoyltransferase in complex with octanoylcarnitine [X-RAY DIFFRACTION]
C323M mutant structure of mouse carnitine octanoyltransferase [X-RAY DIFFRACTION]
M335V mutant structure of mouse carnitine octanoyltransferase [X-RAY DIFFRACTION]
|Predicted Effect||probably benign
AA Change: V93E
PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: V93E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (75/76)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occurs in the peroxisome and is necessary for transport of medium- and long- chain acyl-CoA molecules out of the peroxisome to the cytosol and mitochondria. The protein thus plays a role in lipid metabolism and fatty acid beta-oxidation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Crot||
(F):5'- CCTAGTTAAATTGACAGCATCTGC -3'
(R):5'- GATGGCGGAGTTAATGGTCC -3'
(F):5'- TTGGGCAAGCTCACCTCTCAG -3'
(R):5'- CGGAGTTAATGGTCCCAAAAGTG -3'