|Institutional Source||Beutler Lab|
|Gene Name||hydroxyacyl-Coenzyme A dehydrogenase|
|Is this an essential gene?||Probably non essential (E-score: 0.073)|
|Stock #||R6851 (G1)|
|Chromosomal Location||131233419-131272101 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 131271971 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 13 (S13P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029610 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029610]|
AA Change: S13P
PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: S13P
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
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'- TGTAGTTCTGGGACACTGAAGC -3'
(R):5'- AACTACAGGTTGTCTCTTGGTG -3'
(F):5'- TCTGGGACACTGAAGCATGCTG -3'
(R):5'- TCCTCGGCTGCTGCACT -3'