Incidental Mutation 'R5531:Hibch'
ID 433668
Institutional Source Beutler Lab
Gene Symbol Hibch
Ensembl Gene ENSMUSG00000041426
Gene Name 3-hydroxyisobutyryl-Coenzyme A hydrolase
Synonyms HIBYL-COA-H, 2610509I15Rik
MMRRC Submission 043089-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.418) question?
Stock # R5531 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 52884197-52960145 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 52884228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044478] [ENSMUST00000159352]
AlphaFold Q8QZS1
Predicted Effect probably benign
Transcript: ENSMUST00000044478
SMART Domains Protein: ENSMUSP00000045606
Gene: ENSMUSG00000041426

DomainStartEndE-ValueType
Pfam:ECH_1 43 282 6.6e-34 PFAM
Pfam:ECH_2 45 375 3.9e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159352
SMART Domains Protein: ENSMUSP00000124976
Gene: ENSMUSG00000041426

DomainStartEndE-ValueType
Pfam:ECH 44 299 1.3e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186922
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.5%
  • 10x: 95.6%
  • 20x: 92.2%
Validation Efficiency 97% (64/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,342,767 (GRCm39) F878L possibly damaging Het
Acr T A 15: 89,458,146 (GRCm39) Y276N probably damaging Het
AI987944 A T 7: 41,023,814 (GRCm39) Y388* probably null Het
Ankrd29 G A 18: 12,412,835 (GRCm39) T114I probably damaging Het
Ap5z1 T C 5: 142,453,536 (GRCm39) M168T probably benign Het
Bard1 A C 1: 71,085,880 (GRCm39) C608W probably damaging Het
Brd10 A G 19: 29,731,072 (GRCm39) S647P possibly damaging Het
Clspn A G 4: 126,471,566 (GRCm39) R907G probably benign Het
Cubn C T 2: 13,355,743 (GRCm39) V1830I probably benign Het
Cwc22 T C 2: 77,754,913 (GRCm39) N221S probably damaging Het
Dact3 A G 7: 16,609,540 (GRCm39) E64G possibly damaging Het
Dhx40 T C 11: 86,680,330 (GRCm39) E381G possibly damaging Het
Dnah7a A G 1: 53,458,907 (GRCm39) S3744P possibly damaging Het
Epha4 A G 1: 77,351,513 (GRCm39) V914A probably benign Het
Fbxw10 G A 11: 62,753,482 (GRCm39) C492Y probably damaging Het
G930045G22Rik C A 6: 50,824,756 (GRCm39) noncoding transcript Het
Gm21103 A T 14: 17,484,855 (GRCm39) I63K probably damaging Het
Gpr156 T C 16: 37,825,619 (GRCm39) V612A probably benign Het
Gucy2g A G 19: 55,229,572 (GRCm39) S33P probably benign Het
Hmcn1 A T 1: 150,619,539 (GRCm39) C1192S probably damaging Het
Hsd11b1 CGG CG 1: 192,922,557 (GRCm39) probably null Het
Ifi214 A G 1: 173,352,686 (GRCm39) Y248H probably damaging Het
Igf2bp2 T G 16: 21,907,835 (GRCm39) I89L probably damaging Het
Il2ra A T 2: 11,681,703 (GRCm39) T103S possibly damaging Het
Ino80 T A 2: 119,276,056 (GRCm39) M407L probably benign Het
Jade1 A C 3: 41,567,946 (GRCm39) K671N probably benign Het
Lca5 C T 9: 83,280,648 (GRCm39) S384N probably benign Het
Lce1l G T 3: 92,757,804 (GRCm39) P18H unknown Het
Lrrc8d T C 5: 105,945,536 (GRCm39) probably benign Het
Ly75 T C 2: 60,195,489 (GRCm39) N223S probably damaging Het
Mcm3 A T 1: 20,873,768 (GRCm39) F784Y possibly damaging Het
Ncf4 T G 15: 78,144,988 (GRCm39) probably benign Het
Ncoa1 T A 12: 4,303,746 (GRCm39) M1362L probably benign Het
Or1e16 T C 11: 73,286,003 (GRCm39) T282A probably benign Het
Or5p5 A G 7: 107,414,451 (GRCm39) Y220C probably benign Het
Or6c8b G C 10: 128,882,433 (GRCm39) F166L probably damaging Het
Prkg2 T C 5: 99,115,593 (GRCm39) R543G probably damaging Het
Ptprd A C 4: 75,977,904 (GRCm39) probably null Het
Scap A G 9: 110,210,497 (GRCm39) S969G possibly damaging Het
Sgk2 T C 2: 162,836,624 (GRCm39) F60S probably benign Het
Sgpp1 G T 12: 75,781,981 (GRCm39) Y119* probably null Het
Siglech A T 7: 55,418,413 (GRCm39) K31* probably null Het
Slc40a1 A G 1: 45,951,498 (GRCm39) Y220H probably damaging Het
Smurf2 G A 11: 106,743,389 (GRCm39) T219M possibly damaging Het
Speer4f2 A G 5: 17,581,526 (GRCm39) K156R possibly damaging Het
Spp1 T G 5: 104,588,424 (GRCm39) D276E probably benign Het
Stk32b T C 5: 37,617,078 (GRCm39) probably null Het
Stxbp5 G A 10: 9,638,668 (GRCm39) Q1044* probably null Het
Sv2c T A 13: 96,097,886 (GRCm39) T696S probably damaging Het
Tubgcp2 A C 7: 139,584,937 (GRCm39) probably null Het
Ubap1l C T 9: 65,278,973 (GRCm39) P91S probably damaging Het
Vmn2r76 A T 7: 85,874,657 (GRCm39) D773E probably damaging Het
Xirp2 C G 2: 67,345,646 (GRCm39) S2629C probably benign Het
Zbtb20 C A 16: 43,431,230 (GRCm39) C580* probably null Het
Zfp957 T A 14: 79,450,622 (GRCm39) Q392H unknown Het
Zfyve19 C T 2: 119,042,427 (GRCm39) T178M probably damaging Het
Zswim6 T C 13: 107,906,128 (GRCm39) noncoding transcript Het
Other mutations in Hibch
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Hibch APN 1 52,924,349 (GRCm39) splice site probably benign
IGL00722:Hibch APN 1 52,940,479 (GRCm39) missense probably damaging 0.96
IGL03130:Hibch APN 1 52,924,310 (GRCm39) missense possibly damaging 0.88
IGL03327:Hibch APN 1 52,959,539 (GRCm39) unclassified probably benign
IGL03346:Hibch APN 1 52,959,539 (GRCm39) unclassified probably benign
R0033:Hibch UTSW 1 52,944,610 (GRCm39) missense probably null 0.60
R0033:Hibch UTSW 1 52,944,610 (GRCm39) missense probably null 0.60
R0494:Hibch UTSW 1 52,942,055 (GRCm39) missense possibly damaging 0.73
R1853:Hibch UTSW 1 52,940,494 (GRCm39) critical splice donor site probably null
R4838:Hibch UTSW 1 52,924,337 (GRCm39) missense possibly damaging 0.55
R5239:Hibch UTSW 1 52,904,767 (GRCm39) missense probably damaging 1.00
R5583:Hibch UTSW 1 52,940,406 (GRCm39) missense probably damaging 1.00
R5809:Hibch UTSW 1 52,892,859 (GRCm39) missense probably benign 0.16
R6246:Hibch UTSW 1 52,943,801 (GRCm39) missense probably damaging 0.99
R6365:Hibch UTSW 1 52,908,096 (GRCm39) splice site probably null
R7202:Hibch UTSW 1 52,892,874 (GRCm39) splice site probably null
R8023:Hibch UTSW 1 52,899,197 (GRCm39) missense probably benign 0.00
R8240:Hibch UTSW 1 52,940,494 (GRCm39) critical splice donor site probably null
R9028:Hibch UTSW 1 52,892,868 (GRCm39) missense possibly damaging 0.94
R9293:Hibch UTSW 1 52,952,986 (GRCm39) missense probably damaging 1.00
RF010:Hibch UTSW 1 52,952,891 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TAGTTAACGCCCCTAGCCAG -3'
(R):5'- TACAAAGGCGACTAGATCTGC -3'

Sequencing Primer
(F):5'- CTGTCTAGTGTGGCCCTGC -3'
(R):5'- ACTAGATCTGCGAGACCTGC -3'
Posted On 2016-10-06