Incidental Mutation 'IGL03240:Hadh'
ID 414251
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 # IGL03240
Quality Score
Status
Chromosome 3
Chromosomal Location 131027068-131065750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131042192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 98 (S98G)
Ref Sequence ENSEMBL: ENSMUSP00000029610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029610]
AlphaFold Q61425
Predicted Effect probably benign
Transcript: ENSMUST00000029610
AA Change: S98G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029610
Gene: ENSMUSG00000027984
AA Change: S98G

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,350,365 (GRCm39) probably benign Het
AA467197 A G 2: 122,481,182 (GRCm39) T57A probably benign Het
Akap11 A T 14: 78,733,345 (GRCm39) D1852E probably damaging Het
Arg2 T A 12: 79,178,605 (GRCm39) probably null Het
Arhgef4 A G 1: 34,845,107 (GRCm39) D1437G probably benign Het
AW551984 C A 9: 39,500,418 (GRCm39) R780L probably benign Het
Baz1a T A 12: 54,974,352 (GRCm39) K503* probably null Het
Bltp3a C A 17: 28,112,227 (GRCm39) N1167K probably benign Het
Cdk2ap1 A T 5: 124,484,207 (GRCm39) H96Q probably damaging Het
Col11a1 T A 3: 114,010,859 (GRCm39) probably null Het
Col12a1 A T 9: 79,585,665 (GRCm39) probably null Het
Col22a1 G A 15: 71,679,777 (GRCm39) P877S unknown Het
Col7a1 A T 9: 108,797,441 (GRCm39) N1681Y probably null Het
Dennd1b T G 1: 139,067,130 (GRCm39) S398A possibly damaging Het
Fgd2 C T 17: 29,580,135 (GRCm39) probably benign Het
Has2 C T 15: 56,531,656 (GRCm39) R353H probably damaging Het
Heg1 T C 16: 33,547,783 (GRCm39) S857P probably benign Het
Hemgn T A 4: 46,400,732 (GRCm39) R43* probably null Het
Htr4 A T 18: 62,570,692 (GRCm39) H249L possibly damaging Het
Hycc2 A G 1: 58,569,076 (GRCm39) L501P probably damaging Het
Iqgap3 T C 3: 88,022,281 (GRCm39) S495P probably benign Het
Kars1 T C 8: 112,732,271 (GRCm39) D99G probably benign Het
Krt40 T A 11: 99,428,394 (GRCm39) S333C probably damaging Het
Lamc2 T C 1: 152,999,871 (GRCm39) I1163V probably damaging Het
Lrrn2 A T 1: 132,866,065 (GRCm39) I377F possibly damaging Het
Mcm5 T A 8: 75,842,530 (GRCm39) I268N probably damaging Het
Mmp21 G T 7: 133,276,300 (GRCm39) H514Q probably damaging Het
Mtcl1 G A 17: 66,645,014 (GRCm39) P1478S probably damaging Het
Mybbp1a A G 11: 72,336,492 (GRCm39) T495A possibly damaging Het
Myo10 T A 15: 25,701,688 (GRCm39) V21E probably damaging Het
Nap1l4 A G 7: 143,091,982 (GRCm39) S49P probably benign Het
Ncoa2 G A 1: 13,247,316 (GRCm39) S369F probably damaging Het
Niban2 A C 2: 32,812,109 (GRCm39) Y397S probably benign Het
Or5g9 A T 2: 85,552,675 (GRCm39) K309* probably null Het
Pon2 A G 6: 5,265,316 (GRCm39) probably benign Het
Ppdpf T C 2: 180,829,673 (GRCm39) S43P probably benign Het
Psmd6 A G 14: 14,112,393 (GRCm38) probably benign Het
Ptprk G T 10: 28,368,957 (GRCm39) R643L probably damaging Het
Ptprq T A 10: 107,524,368 (GRCm39) Y455F probably benign Het
Sec23b G A 2: 144,408,679 (GRCm39) probably benign Het
Sh3pxd2a A G 19: 47,256,465 (GRCm39) L751P probably damaging Het
Snx6 T A 12: 54,830,228 (GRCm39) H77L probably damaging Het
Svep1 C A 4: 58,048,188 (GRCm39) C3472F possibly damaging Het
Trpd52l3 A T 19: 29,981,396 (GRCm39) E50D probably damaging Het
Ttc33 A G 15: 5,246,809 (GRCm39) D205G probably damaging Het
Tubgcp3 A T 8: 12,699,797 (GRCm39) V352E probably benign Het
Tulp2 T G 7: 45,171,734 (GRCm39) F436C probably damaging Het
Vmn1r123 T A 7: 20,896,282 (GRCm39) M58K possibly damaging Het
Vmn2r113 T C 17: 23,174,931 (GRCm39) V514A probably benign Het
Vps13c T C 9: 67,862,329 (GRCm39) V2982A probably benign Het
Ywhaq T C 12: 21,445,001 (GRCm39) T215A possibly damaging Het
Zfp677 A T 17: 21,617,135 (GRCm39) H64L probably damaging Het
Other mutations in Hadh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Hadh APN 3 131,043,465 (GRCm39) missense probably benign
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
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 2016-08-02