|Institutional Source||Beutler Lab|
|Gene Name||hydroxyacyl-Coenzyme A dehydrogenase|
|Is this an essential gene?||Probably non essential (E-score: 0.114)|
|Stock #||R1687 (G1)|
|Chromosomal Location||131233419-131272101 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 131245249 bp|
|Amino Acid Change||Isoleucine to Valine at position 153 (I153V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029610 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029610]|
|Predicted Effect||probably benign
AA Change: I153V
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
AA Change: I153V
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased susceptibility to diet-induced obesity associated with impaired fatty acid oxidation, impaired fat tolerance, decreased ketone bodies, and increased glucose-stimulated insulin secretion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hadh||
(F):5'- GAGCCTTCCAAGATAAGAGCTGCC -3'
(R):5'- AAGTGTCTGATCACTTCACTGTGCC -3'
(F):5'- TCCAAGATAAGAGCTGCCCTTTC -3'
(R):5'- AAAACGCAGTCGCTTGGTTTC -3'