Incidental Mutation 'IGL01062:Hadh'
ID 50682
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hadh
Ensembl Gene ENSMUSG00000027984
Gene Name hydroxyacyl-Coenzyme A dehydrogenase
Synonyms Schad, Hadhsc
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL01062
Quality Score
Status
Chromosome 3
Chromosomal Location 131027068-131065750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 131034640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 219 (V219M)
Ref Sequence ENSEMBL: ENSMUSP00000029610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029610]
AlphaFold Q61425
Predicted Effect probably damaging
Transcript: ENSMUST00000029610
AA Change: V219M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029610
Gene: ENSMUSG00000027984
AA Change: V219M

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 4 87 1.2e-7 PFAM
Pfam:3HCDH_N 29 214 1.4e-66 PFAM
Pfam:3HCDH 216 313 7e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152427
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Amer3 A G 1: 34,625,820 (GRCm39) K20E probably damaging Het
Arhgap31 A G 16: 38,421,818 (GRCm39) L1416P probably damaging Het
Avpr1a G A 10: 122,285,434 (GRCm39) C242Y probably damaging Het
Bclaf3 T C X: 158,336,415 (GRCm39) Y281H probably benign Het
Cdc14a T A 3: 116,068,361 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cntn4 T C 6: 106,595,239 (GRCm39) probably benign Het
Cyp3a44 T A 5: 145,731,149 (GRCm39) D217V possibly damaging Het
Eprs1 A G 1: 185,111,812 (GRCm39) E274G probably benign Het
Ercc6l2 G T 13: 63,995,268 (GRCm39) Q354H probably null Het
Glb1l A T 1: 75,177,882 (GRCm39) I392N probably damaging Het
Gm3173 T C 14: 15,728,472 (GRCm39) probably null Het
Hspb9 A G 11: 100,604,761 (GRCm39) H29R possibly damaging Het
Iqgap3 G T 3: 88,017,429 (GRCm39) V240L probably benign Het
Jmjd1c T C 10: 67,062,494 (GRCm39) S1616P probably damaging Het
Knl1 A G 2: 118,907,461 (GRCm39) I1662V probably benign Het
Maco1 A T 4: 134,560,608 (GRCm39) V125E probably damaging Het
Mapre3 A G 5: 31,022,240 (GRCm39) I236V probably benign Het
Med17 T C 9: 15,190,917 (GRCm39) E58G probably benign Het
Myh6 T C 14: 55,189,749 (GRCm39) E1099G probably damaging Het
Myt1 T A 2: 181,439,522 (GRCm39) V348D probably damaging Het
Nat10 A T 2: 103,573,393 (GRCm39) I368N probably damaging Het
Nol6 T C 4: 41,118,205 (GRCm39) I811V probably benign Het
Oas1d C A 5: 121,057,127 (GRCm39) Y244* probably null Het
Or6e1 A T 14: 54,520,181 (GRCm39) M57K probably damaging Het
Osbpl1a A G 18: 13,038,132 (GRCm39) V273A probably benign Het
Pigw T C 11: 84,768,769 (GRCm39) R187G probably benign Het
Plekhg5 G A 4: 152,192,953 (GRCm39) D603N probably damaging Het
Ptprk T C 10: 28,456,414 (GRCm39) V1058A probably damaging Het
Robo4 G A 9: 37,317,296 (GRCm39) S537N probably benign Het
Rptn T A 3: 93,304,489 (GRCm39) F607L probably benign Het
Sall1 A G 8: 89,759,972 (GRCm39) V44A probably damaging Het
Sh3bp4 C A 1: 89,071,682 (GRCm39) Q177K probably benign Het
Skic3 T A 13: 76,303,581 (GRCm39) L1225* probably null Het
Spmip6 T A 4: 41,511,433 (GRCm39) E93D probably damaging Het
Srrt C A 5: 137,294,569 (GRCm39) G779V probably damaging Het
Tamalin A G 15: 101,126,777 (GRCm39) probably benign Het
Tex21 T C 12: 76,245,718 (GRCm39) D526G probably benign Het
Vmn1r10 A G 6: 57,090,821 (GRCm39) S138G possibly damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfp454 T C 11: 50,765,033 (GRCm39) E22G probably benign Het
Zzef1 T A 11: 72,765,795 (GRCm39) C1441S probably benign Het
Other mutations in Hadh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Hadh APN 3 131,043,465 (GRCm39) missense probably benign
IGL01106:Hadh APN 3 131,034,619 (GRCm39) missense possibly damaging 0.89
IGL02629:Hadh APN 3 131,029,284 (GRCm39) missense probably damaging 1.00
IGL02717:Hadh APN 3 131,043,559 (GRCm39) missense probably benign
IGL03180:Hadh APN 3 131,065,533 (GRCm39) missense probably benign 0.08
IGL03240:Hadh APN 3 131,042,192 (GRCm39) missense probably benign
R0081:Hadh UTSW 3 131,029,285 (GRCm39) missense probably damaging 1.00
R1687:Hadh UTSW 3 131,038,898 (GRCm39) missense probably benign 0.00
R2000:Hadh UTSW 3 131,038,888 (GRCm39) missense probably benign 0.11
R4989:Hadh UTSW 3 131,029,197 (GRCm39) nonsense probably null
R6851:Hadh UTSW 3 131,065,620 (GRCm39) missense possibly damaging 0.91
R8787:Hadh UTSW 3 131,027,825 (GRCm39) missense probably damaging 0.99
R8906:Hadh UTSW 3 131,038,891 (GRCm39) missense probably benign
R9245:Hadh UTSW 3 131,034,636 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21