Incidental Mutation 'IGL02629:Hadh'
ID 301188
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 # IGL02629
Quality Score
Status
Chromosome 3
Chromosomal Location 131027068-131065750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131029284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 245 (D245V)
Ref Sequence ENSEMBL: ENSMUSP00000029610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029610]
AlphaFold Q61425
Predicted Effect probably damaging
Transcript: ENSMUST00000029610
AA Change: D245V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029610
Gene: ENSMUSG00000027984
AA Change: D245V

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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,445,006 (GRCm39) probably benign Het
Aadacl3 A G 4: 144,190,199 (GRCm39) I34T possibly damaging Het
Acan T A 7: 78,761,727 (GRCm39) I1979N possibly damaging Het
Ankrd27 A G 7: 35,325,121 (GRCm39) D701G probably benign Het
Arhgap31 C T 16: 38,429,526 (GRCm39) G450S probably benign Het
Braf T C 6: 39,665,233 (GRCm39) E45G possibly damaging Het
Btnl6 C T 17: 34,733,442 (GRCm39) V178M probably damaging Het
Capg A T 6: 72,532,737 (GRCm39) Q67L probably benign Het
Carmil3 A G 14: 55,736,525 (GRCm39) N663S probably damaging Het
Casz1 T A 4: 149,028,848 (GRCm39) S1098T probably benign Het
Cd55b A T 1: 130,347,535 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cenpf A G 1: 189,384,531 (GRCm39) L2583P probably damaging Het
Clec4a1 A C 6: 122,909,106 (GRCm39) probably null Het
Corin T C 5: 72,490,016 (GRCm39) N653S probably damaging Het
Dhx36 T C 3: 62,414,155 (GRCm39) E69G probably benign Het
Dpy19l1 C A 9: 24,350,009 (GRCm39) probably benign Het
Fam184a T C 10: 53,574,907 (GRCm39) N234S possibly damaging Het
Foxg1 A G 12: 49,432,331 (GRCm39) S355G probably benign Het
Fsd1l T C 4: 53,686,417 (GRCm39) S277P probably damaging Het
Jag2 G A 12: 112,878,134 (GRCm39) probably benign Het
Klhl18 A T 9: 110,259,006 (GRCm39) probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Mcoln2 A G 3: 145,875,799 (GRCm39) Y89C probably benign Het
Mug1 A T 6: 121,817,024 (GRCm39) Y31F possibly damaging Het
Ndufb5 A G 3: 32,791,348 (GRCm39) T32A probably benign Het
Nub1 C T 5: 24,908,462 (GRCm39) H404Y possibly damaging Het
Nudt6 A G 3: 37,459,320 (GRCm39) Y222H probably benign Het
Or4x6 A T 2: 89,949,201 (GRCm39) L247* probably null Het
Pla2g4c A T 7: 13,069,302 (GRCm39) R159* probably null Het
Pnpla7 A G 2: 24,940,957 (GRCm39) D1103G probably damaging Het
Pof1b T G X: 111,554,934 (GRCm39) probably benign Het
Prrg2 C T 7: 44,706,166 (GRCm39) probably null Het
Rab3gap1 A G 1: 127,837,600 (GRCm39) T221A probably benign Het
Rfx7 A G 9: 72,526,541 (GRCm39) N1244D probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rnf123 A T 9: 107,947,988 (GRCm39) probably benign Het
Rnf44 T G 13: 54,830,875 (GRCm39) Q207P possibly damaging Het
Serpina3g A G 12: 104,207,437 (GRCm39) D200G probably damaging Het
Slc5a4a T A 10: 75,983,413 (GRCm39) S17T unknown Het
Smc4 G T 3: 68,933,206 (GRCm39) C609F probably damaging Het
Sync T C 4: 129,187,744 (GRCm39) F259L probably damaging Het
Tas2r113 T C 6: 132,870,299 (GRCm39) L109P probably damaging Het
Tjp2 C A 19: 24,099,743 (GRCm39) probably benign Het
Tmem30a C A 9: 79,683,531 (GRCm39) probably benign Het
Unc80 T C 1: 66,522,476 (GRCm39) V226A possibly damaging Het
Upk2 A T 9: 44,365,436 (GRCm39) L44Q probably damaging Het
Usp42 T C 5: 143,708,909 (GRCm39) Y203C possibly damaging Het
Vmn1r28 A T 6: 58,242,801 (GRCm39) I215F probably benign Het
Zswim2 A G 2: 83,755,553 (GRCm39) V116A possibly 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
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 2015-04-16