Incidental Mutation 'IGL03346:Hibch'
ID417470
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: 0.457) question?
Stock #IGL03346
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
Atp13a5 C T 16: 29,314,604 V410M probably benign Het
Cdkn2aip G T 8: 47,713,618 D51E probably benign Het
Chd6 A G 2: 160,960,362 V2184A probably benign Het
Clcn1 C T 6: 42,311,219 T797I probably benign Het
Cldn23 G A 8: 35,825,440 probably benign Het
Cntnap4 A G 8: 112,773,576 D500G probably benign Het
Cog5 A T 12: 31,894,038 I641F possibly damaging Het
Cr2 A T 1: 195,169,759 V94E probably damaging Het
Creg2 T G 1: 39,650,747 D65A probably damaging Het
Dennd4a A G 9: 64,888,526 R711G possibly damaging Het
Efr3b A G 12: 3,984,648 V58A probably damaging Het
Fbxo3 A G 2: 104,050,294 T250A probably damaging Het
Fzr1 T C 10: 81,369,184 T300A probably benign Het
Gabrg1 A T 5: 70,778,131 Y227N possibly damaging Het
Gins3 A G 8: 95,643,275 I197V probably benign Het
Gm17079 T C 14: 51,692,963 T142A possibly damaging Het
Gm8909 C A 17: 36,168,109 D83Y probably damaging Het
Gna15 T C 10: 81,503,045 Y320C probably damaging Het
Kif5b G A 18: 6,222,767 R355W probably damaging Het
Klf1 T C 8: 84,902,932 S129P probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Nat8f5 A G 6: 85,817,658 S107P probably damaging Het
Olfr331 A G 11: 58,501,755 L267P possibly damaging Het
Olfr938 C A 9: 39,077,961 Q261H probably benign Het
Olfr938 T A 9: 39,077,962 Q261L probably damaging Het
Pcdhb18 G A 18: 37,489,621 M1I probably null Het
Plcb3 A G 19: 6,955,052 F1080L probably benign Het
Polr2g T C 19: 8,798,305 H14R probably damaging Het
Rp1l1 A G 14: 64,029,440 D825G probably benign Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Slc25a54 T C 3: 109,085,730 probably benign Het
Smad9 C A 3: 54,789,215 Q234K probably benign Het
Tie1 T C 4: 118,472,828 Y1066C probably damaging Het
Traf1 T C 2: 34,948,472 E118G probably benign Het
Ttc21b T C 2: 66,237,848 D278G possibly damaging Het
Uaca C A 9: 60,854,318 T204K probably damaging Het
Utrn A T 10: 12,525,352 Y154N probably benign Het
Virma A G 4: 11,518,984 T694A probably benign Het
Vmn2r50 T C 7: 10,046,002 D500G probably damaging Het
Vmn2r59 T A 7: 42,043,829 H449L 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
IGL03327: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
R8023:Hibch UTSW 1 52860038 missense probably benign 0.00
R8240:Hibch UTSW 1 52901335 critical splice donor site probably null
RF010:Hibch UTSW 1 52913732 missense probably benign 0.01
Posted On2016-08-02