Incidental Mutation 'R6851:Hadh'
ID 534961
Institutional Source Beutler Lab
Gene Symbol Hadh
Ensembl Gene ENSMUSG00000027984
Gene Name hydroxyacyl-Coenzyme A dehydrogenase
Synonyms Schad, Hadhsc
MMRRC Submission 044955-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R6851 (G1)
Quality Score 177.009
Status Validated
Chromosome 3
Chromosomal Location 131027068-131065750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131065620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 13 (S13P)
Ref Sequence ENSEMBL: ENSMUSP00000029610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029610]
AlphaFold Q61425
Predicted Effect possibly damaging
Transcript: ENSMUST00000029610
AA Change: S13P

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029610
Gene: ENSMUSG00000027984
AA Change: S13P

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (41/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,623,345 (GRCm39) C856S probably benign Het
Arrdc2 T C 8: 71,291,369 (GRCm39) E153G probably damaging Het
Cacna1d T C 14: 29,764,739 (GRCm39) D2033G probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Cracr2a A T 6: 127,585,679 (GRCm39) D159V probably damaging Het
Defa35 T C 8: 21,555,146 (GRCm39) I22T possibly damaging Het
Dgke T C 11: 88,943,309 (GRCm39) T227A probably benign Het
Efcab3 G A 11: 104,896,521 (GRCm39) R4290K probably benign Het
Firrm G A 1: 163,792,336 (GRCm39) R554C probably damaging Het
Galnt10 G A 11: 57,656,458 (GRCm39) R214Q probably damaging Het
Gpr180 T C 14: 118,391,037 (GRCm39) Y189H probably damaging Het
Hcn2 T A 10: 79,564,947 (GRCm39) probably null Het
Irgm2 T C 11: 58,110,641 (GRCm39) S123P possibly damaging Het
Kcnv1 T A 15: 44,972,594 (GRCm39) I430F probably damaging Het
Kif13b G A 14: 65,010,514 (GRCm39) C1271Y probably damaging Het
Klhdc3 A T 17: 46,989,218 (GRCm39) I48N possibly damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Mprip T A 11: 59,649,841 (GRCm39) W1182R probably damaging Het
Mycbp2 A T 14: 103,497,630 (GRCm39) probably null Het
Or12e1 T A 2: 87,022,813 (GRCm39) S261T probably benign Het
Or1j11 T A 2: 36,311,832 (GRCm39) C141S probably damaging Het
Or8b51 A G 9: 38,569,481 (GRCm39) V69A probably benign Het
Or8h9 T C 2: 86,789,611 (GRCm39) T64A possibly damaging Het
Or9m1b T A 2: 87,836,300 (GRCm39) H265L probably damaging Het
Osbpl8 T A 10: 111,106,479 (GRCm39) Y295* probably null Het
Pex5 A G 6: 124,380,113 (GRCm39) S275P possibly damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Sele G T 1: 163,881,521 (GRCm39) G543C probably damaging Het
Serpina3k A C 12: 104,311,625 (GRCm39) Y401S probably benign Het
Slc13a4 A G 6: 35,278,668 (GRCm39) S74P probably damaging Het
Spata31d1a A G 13: 59,851,725 (GRCm39) L114P unknown Het
Syne1 G T 10: 5,212,703 (GRCm39) C3295* probably null Het
Tepsin G T 11: 119,987,787 (GRCm39) H44N probably damaging Het
Tpp1 A T 7: 105,398,919 (GRCm39) V170E probably damaging Het
Trav3-1 T C 14: 52,818,428 (GRCm39) V34A probably damaging Het
Tsbp1 A T 17: 34,679,146 (GRCm39) Y303F possibly damaging Het
Ush2a T C 1: 188,265,402 (GRCm39) V1642A probably benign Het
Vmn1r122 A G 7: 20,867,845 (GRCm39) I70T probably benign Het
Vmn2r96 A G 17: 18,802,800 (GRCm39) M237V possibly damaging Het
Wdr75 A G 1: 45,862,587 (GRCm39) E802G probably benign Het
Zan G A 5: 137,394,453 (GRCm39) T4462I unknown 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTAGTTCTGGGACACTGAAGC -3'
(R):5'- AACTACAGGTTGTCTCTTGGTG -3'

Sequencing Primer
(F):5'- TCTGGGACACTGAAGCATGCTG -3'
(R):5'- TCCTCGGCTGCTGCACT -3'
Posted On 2018-09-12