Incidental Mutation 'IGL03327:Hibch'
ID416708
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hibch
Ensembl Gene ENSMUSG00000041426
Gene Name3-hydroxyisobutyryl-Coenzyme A hydrolase
Synonyms2610509I15Rik, HIBYL-COA-H
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.259) question?
Stock #IGL03327
Quality Score
Status
Chromosome1
Chromosomal Location52844929-52920986 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to A at 52920380 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044478] [ENSMUST00000050567] [ENSMUST00000114492] [ENSMUST00000114493] [ENSMUST00000159352] [ENSMUST00000186266] [ENSMUST00000190726] [ENSMUST00000190831] [ENSMUST00000191441]
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: ENSMUST00000050567
SMART Domains Protein: ENSMUSP00000055413
Gene: ENSMUSG00000043629

DomainStartEndE-ValueType
Pfam:DUF4565 1 101 1.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114492
SMART Domains Protein: ENSMUSP00000110136
Gene: ENSMUSG00000043629

DomainStartEndE-ValueType
Pfam:DUF4565 1 101 1.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114493
SMART Domains Protein: ENSMUSP00000110137
Gene: ENSMUSG00000043629

DomainStartEndE-ValueType
Pfam:SmAKAP 1 100 2e-40 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 probably benign
Transcript: ENSMUST00000186266
SMART Domains Protein: ENSMUSP00000140273
Gene: ENSMUSG00000043629

DomainStartEndE-ValueType
Pfam:DUF4565 1 101 1.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190726
SMART Domains Protein: ENSMUSP00000140530
Gene: ENSMUSG00000043629

DomainStartEndE-ValueType
Pfam:DUF4565 1 101 1.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190831
SMART Domains Protein: ENSMUSP00000140160
Gene: ENSMUSG00000043629

DomainStartEndE-ValueType
Pfam:DUF4565 1 101 1.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191441
SMART Domains Protein: ENSMUSP00000139750
Gene: ENSMUSG00000043629

DomainStartEndE-ValueType
Pfam:DUF4565 1 101 1.1e-40 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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430105I19Rik T C 2: 118,761,670 N79S probably damaging Het
Adcy8 T C 15: 64,920,267 Y280C probably damaging Het
Anapc1 T C 2: 128,623,934 T1647A probably benign Het
Ano3 T C 2: 110,697,178 I562V possibly damaging Het
Ash1l C T 3: 89,023,083 P1956S probably benign Het
Cd160 C T 3: 96,805,533 probably null Het
Chd3 G T 11: 69,350,186 A1527E probably damaging Het
Clcn1 C T 6: 42,311,219 T797I probably benign Het
Cntnap3 G A 13: 64,887,768 Q44* probably null Het
Cntnap4 A G 8: 112,773,576 D500G probably benign Het
Col6a6 T C 9: 105,767,234 D1285G possibly damaging Het
Cr2 A T 1: 195,169,759 V94E probably damaging Het
Dcaf1 T C 9: 106,858,624 S924P possibly damaging Het
Eif5b T C 1: 38,041,691 probably benign Het
Fat1 A C 8: 44,950,468 K85N probably damaging Het
Fnip2 T C 3: 79,518,081 E69G probably damaging Het
Fzr1 T C 10: 81,369,184 T300A probably benign Het
Galc A G 12: 98,207,476 probably benign Het
Gm17079 T C 14: 51,692,963 T142A possibly damaging Het
Hmmr A G 11: 40,715,415 C243R probably damaging Het
Il25 T C 14: 54,935,360 probably benign Het
Kif5b G A 18: 6,222,767 R355W probably damaging Het
Kifc3 C T 8: 95,108,432 D242N probably damaging Het
Lig1 T G 7: 13,303,855 I677S probably damaging Het
Lrig1 G T 6: 94,606,123 A1004E probably benign Het
Nras A G 3: 103,059,024 T35A probably damaging Het
Nt5c1b C T 12: 10,374,861 Q136* probably null Het
Olfr1046 C T 2: 86,217,274 W145* probably null Het
Olfr1278 A T 2: 111,292,462 N65Y probably damaging Het
Olfr815 T G 10: 129,902,582 I43L possibly damaging Het
Plcb3 A G 19: 6,955,052 F1080L probably benign Het
Plpp2 T C 10: 79,530,984 probably null Het
Ptpre G A 7: 135,672,822 probably null Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Sh3bp4 C A 1: 89,144,163 Y244* probably null Het
Trip11 A T 12: 101,883,418 N1462K possibly damaging Het
Ttc21b T C 2: 66,237,848 D278G possibly damaging Het
Virma A G 4: 11,518,984 T694A probably benign Het
Wdr35 T C 12: 8,978,694 probably benign Het
Xdh T C 17: 73,916,792 E535G probably benign Het
Other mutations in Hibch
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Hibch APN 1 52885190 splice site probably benign
IGL00722:Hibch APN 1 52901320 missense probably damaging 0.96
IGL03130:Hibch APN 1 52885151 missense possibly damaging 0.88
IGL03346:Hibch APN 1 52920380 unclassified probably benign
R0033:Hibch UTSW 1 52905451 missense probably null 0.60
R0033:Hibch UTSW 1 52905451 missense probably null 0.60
R0494:Hibch UTSW 1 52902896 missense possibly damaging 0.73
R1853:Hibch UTSW 1 52901335 critical splice donor site probably null
R4838:Hibch UTSW 1 52885178 missense possibly damaging 0.55
R5239:Hibch UTSW 1 52865608 missense probably damaging 1.00
R5531:Hibch UTSW 1 52845069 utr 5 prime probably benign
R5583:Hibch UTSW 1 52901247 missense probably damaging 1.00
R5809:Hibch UTSW 1 52853700 missense probably benign 0.16
R6246:Hibch UTSW 1 52904642 missense probably damaging 0.99
R6365:Hibch UTSW 1 52868937 synonymous probably null
R7202:Hibch UTSW 1 52853715 splice site probably null
RF010:Hibch UTSW 1 52913732 missense probably benign 0.01
Posted On2016-08-02