Incidental Mutation 'IGL03130:Hibch'
ID 410279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hibch
Ensembl Gene ENSMUSG00000041426
Gene Name 3-hydroxyisobutyryl-Coenzyme A hydrolase
Synonyms HIBYL-COA-H, 2610509I15Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.418) question?
Stock # IGL03130
Quality Score
Status
Chromosome 1
Chromosomal Location 52884197-52960145 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52924310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 162 (S162P)
Ref Sequence ENSEMBL: ENSMUSP00000124976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044478] [ENSMUST00000159352]
AlphaFold Q8QZS1
Predicted Effect possibly damaging
Transcript: ENSMUST00000044478
AA Change: S162P

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000045606
Gene: ENSMUSG00000041426
AA Change: S162P

DomainStartEndE-ValueType
Pfam:ECH_1 43 282 6.6e-34 PFAM
Pfam:ECH_2 45 375 3.9e-141 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000159352
AA Change: S162P

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124976
Gene: ENSMUSG00000041426
AA Change: S162P

DomainStartEndE-ValueType
Pfam:ECH 44 299 1.3e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161125
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 G T 10: 85,224,347 (GRCm39) probably null Het
Agtpbp1 T C 13: 59,622,403 (GRCm39) E941G possibly damaging Het
Akap11 A T 14: 78,747,808 (GRCm39) Y1526* probably null Het
Brd1 T C 15: 88,572,577 (GRCm39) I1165V probably benign Het
Cdan1 T C 2: 120,558,393 (GRCm39) D473G possibly damaging Het
Clstn3 G A 6: 124,436,222 (GRCm39) L176F probably damaging Het
Ctif T C 18: 75,654,689 (GRCm39) N279S probably benign Het
Dpy19l3 A G 7: 35,452,097 (GRCm39) S16P probably benign Het
Ecpas A T 4: 58,800,288 (GRCm39) C1806S probably benign Het
Fam151b T C 13: 92,586,701 (GRCm39) Y244C probably benign Het
Gbf1 T C 19: 46,255,787 (GRCm39) M750T possibly damaging Het
Gm11564 T A 11: 99,705,879 (GRCm39) T184S unknown Het
Gnptab A G 10: 88,272,233 (GRCm39) K958E possibly damaging Het
Itpr1 T C 6: 108,500,362 (GRCm39) S2651P probably benign Het
LTO1 A G 7: 144,470,197 (GRCm39) E42G probably damaging Het
Lyrm1 A G 7: 119,513,403 (GRCm39) D56G probably damaging Het
Manba T C 3: 135,256,920 (GRCm39) Y528H probably damaging Het
Npas2 A C 1: 39,352,109 (GRCm39) E186D probably damaging Het
Or4f61 A T 2: 111,922,166 (GRCm39) D293E probably benign Het
Or7c19 A T 8: 85,957,258 (GRCm39) I45F possibly damaging Het
Or7d11 C A 9: 19,966,668 (GRCm39) L30F probably benign Het
Pcdhb6 T A 18: 37,468,640 (GRCm39) Y520* probably null Het
Plekhm1 C T 11: 103,268,207 (GRCm39) R588H probably benign Het
Psg23 A T 7: 18,344,341 (GRCm39) H371Q probably benign Het
Ptpn12 T C 5: 21,207,610 (GRCm39) probably benign Het
Rela T C 19: 5,689,909 (GRCm39) C120R probably damaging Het
Rps6kc1 T A 1: 190,532,008 (GRCm39) I665F probably damaging Het
Spg21 A G 9: 65,380,990 (GRCm39) Q99R probably benign Het
St14 A G 9: 31,008,367 (GRCm39) probably null Het
Sult1c2 A T 17: 54,137,099 (GRCm39) N274K probably benign Het
Syk T C 13: 52,776,768 (GRCm39) V256A probably benign Het
Tcte1 A G 17: 45,844,222 (GRCm39) D66G probably damaging Het
Tgm4 C T 9: 122,885,580 (GRCm39) T374M probably damaging Het
Tns4 T C 11: 98,959,095 (GRCm39) H668R probably damaging Het
Tsn C T 1: 118,232,999 (GRCm39) A102T possibly damaging Het
Uvssa T A 5: 33,549,189 (GRCm39) S350T possibly damaging Het
Vmn1r3 T A 4: 3,185,214 (GRCm39) Y31F possibly damaging Het
Vmn2r114 A T 17: 23,515,970 (GRCm39) probably benign Het
Vmn2r27 T C 6: 124,169,276 (GRCm39) D618G possibly damaging Het
Vmn2r91 T A 17: 18,330,373 (GRCm39) probably benign Het
Vti1a T C 19: 55,380,279 (GRCm39) Y143H probably damaging Het
Zfand4 T A 6: 116,250,620 (GRCm39) Y17N probably damaging Het
Zfp729a T C 13: 67,767,761 (GRCm39) probably null Het
Zfp827 A G 8: 79,787,586 (GRCm39) T251A probably damaging 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
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
R5531:Hibch UTSW 1 52,884,228 (GRCm39) utr 5 prime probably benign
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
Posted On 2016-08-02