|Institutional Source||Beutler Lab|
|Gene Name||hydroxyacyl-Coenzyme A dehydrogenase|
|Is this an essential gene?||Probably non essential (E-score: 0.128)|
|Stock #||R0081 (G1)|
|Chromosomal Location||131233419-131272101 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 131235636 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 245 (D245N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029610 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029610]|
|Predicted Effect||probably damaging
AA Change: D245N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D245N
|Meta Mutation Damage Score||0.9682|
|Coding Region Coverage||
|Validation Efficiency||94% (159/169)|
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'- TCTGCCACATTGGGACAAAGCC -3'
(R):5'- CTGGGACAGAAATCTTACCCACAGC -3'
(F):5'- tcagaaccaaaagacacacaac -3'
(R):5'- CAGCAACATGGGCTTTTGGAC -3'