Incidental Mutation 'IGL00886:Hadh'
ID 27056
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: 0.102) question?
Stock # IGL00886
Quality Score
Status
Chromosome 3
Chromosomal Location 131027068-131065750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 131043465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 83 (T83K)
Ref Sequence ENSEMBL: ENSMUSP00000029610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029610]
AlphaFold Q61425
Predicted Effect probably benign
Transcript: ENSMUST00000029610
AA Change: T83K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029610
Gene: ENSMUSG00000027984
AA Change: T83K

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,054,101 (GRCm39) R67H possibly damaging Het
Ak4 G T 4: 101,304,386 (GRCm39) E59* probably null Het
Ano10 T C 9: 122,100,390 (GRCm39) N116S probably benign Het
Arid1b T A 17: 5,177,254 (GRCm39) H658Q probably damaging Het
Atf2 G A 2: 73,675,847 (GRCm39) T208I possibly damaging Het
Bco1 T C 8: 117,857,376 (GRCm39) W448R probably damaging Het
Cel A T 2: 28,449,397 (GRCm39) C277S probably damaging Het
Chd5 T A 4: 152,444,156 (GRCm39) D296E probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Fmo9 T C 1: 166,507,714 (GRCm39) probably null Het
Gdpgp1 T G 7: 79,889,100 (GRCm39) L377R probably damaging Het
Gm26938 T A 5: 139,812,091 (GRCm39) D3V probably damaging Het
Gpld1 T A 13: 25,146,336 (GRCm39) Y193* probably null Het
Gtf2h4 T C 17: 35,980,874 (GRCm39) H265R probably damaging Het
Hao1 T C 2: 134,365,079 (GRCm39) M183V probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift88 T C 14: 57,715,525 (GRCm39) Y523H probably damaging Het
Il23r G T 6: 67,450,874 (GRCm39) Q202K possibly damaging Het
Iyd T C 10: 3,540,444 (GRCm38) D50A probably benign Het
Katnal2 A T 18: 77,090,450 (GRCm39) L248Q probably damaging Het
Krtap26-1 A T 16: 88,444,267 (GRCm39) V118E possibly damaging Het
Lzic T C 4: 149,577,753 (GRCm39) probably null Het
Meak7 T C 8: 120,500,007 (GRCm39) probably benign Het
Mical2 T A 7: 111,914,279 (GRCm39) N316K probably benign Het
Ndufc2 T A 7: 97,049,397 (GRCm39) M1K probably null Het
Net1 A G 13: 3,943,391 (GRCm39) probably benign Het
Or13g1 G A 7: 85,956,259 (GRCm39) L21F probably damaging Het
Pde1c A G 6: 56,150,659 (GRCm39) Y287H probably damaging Het
Pitpnm1 T C 19: 4,160,665 (GRCm39) probably null Het
Pla2r1 T A 2: 60,254,668 (GRCm39) E1300V probably damaging Het
Polr3g T C 13: 81,842,796 (GRCm39) Y73C probably damaging Het
Ryr1 T A 7: 28,723,654 (GRCm39) E4137V probably damaging Het
Scrib T C 15: 75,920,643 (GRCm39) D1425G possibly damaging Het
Slc25a12 A G 2: 71,174,376 (GRCm39) Y23H possibly damaging Het
Spef2 C A 15: 9,663,181 (GRCm39) G867W probably damaging Het
Strn3 A T 12: 51,656,933 (GRCm39) Y698N probably damaging Het
Ube3a T A 7: 58,934,485 (GRCm39) F533I probably damaging Het
Other mutations in Hadh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Hadh APN 3 131,034,640 (GRCm39) missense probably damaging 1.00
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 2013-04-17