|Institutional Source||Beutler Lab|
|Gene Name||hydroxyacyl-Coenzyme A dehydrogenase|
|Is this an essential gene?||Probably non essential (E-score: 0.111)|
|Stock #||R8787 (G1)|
|Chromosomal Location||131233419-131272101 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 131234176 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 313 (Y313F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029610 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029610]|
|Predicted Effect||probably damaging
AA Change: Y313F
PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: Y313F
|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'- TTCAGTGGAAGAACCCCATG -3'
(R):5'- CAATGTTGGCTGTACCCGTG -3'
(F):5'- GTGGAAGAACCCCATGACTGC -3'
(R):5'- ATGGATTCTGTGCCCCAGG -3'