Incidental Mutation 'R0033:Hibch'
ID15415
Institutional Source Beutler Lab
Gene Symbol Hibch
Ensembl Gene ENSMUSG00000041426
Gene Name3-hydroxyisobutyryl-Coenzyme A hydrolase
Synonyms2610509I15Rik, HIBYL-COA-H
MMRRC Submission 038327-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.260) question?
Stock #R0033 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location52844929-52920986 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52905451 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 296 (K296R)
Ref Sequence ENSEMBL: ENSMUSP00000124976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044478] [ENSMUST00000159352]
Predicted Effect probably null
Transcript: ENSMUST00000044478
AA Change: K296R

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000045606
Gene: ENSMUSG00000041426
AA Change: K296R

DomainStartEndE-ValueType
Pfam:ECH_1 43 282 6.6e-34 PFAM
Pfam:ECH_2 45 375 3.9e-141 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000159352
AA Change: K296R

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124976
Gene: ENSMUSG00000041426
AA Change: K296R

DomainStartEndE-ValueType
Pfam:ECH 44 299 1.3e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162609
Meta Mutation Damage Score 0.1323 question?
Coding Region Coverage
  • 1x: 80.0%
  • 3x: 71.7%
  • 10x: 49.2%
  • 20x: 29.7%
Validation Efficiency 96% (74/77)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agr3 C T 12: 35,928,330 T14M possibly damaging Het
Aldh9a1 T C 1: 167,356,571 S212P probably damaging Het
Ank2 T A 3: 127,104,748 probably benign Het
Cdkn3 C A 14: 46,768,872 Y141* probably null Het
Ceacam12 T G 7: 18,069,460 probably benign Het
Celf1 T C 2: 91,001,453 probably benign Het
Col6a3 A G 1: 90,802,245 S1780P probably damaging Het
Cpxm2 T C 7: 132,062,157 I346V possibly damaging Het
Csf3r A G 4: 126,031,884 T151A probably benign Het
Ctss G A 3: 95,545,577 probably benign Het
D430042O09Rik T G 7: 125,761,827 V103G possibly damaging Het
Erp44 T C 4: 48,241,289 probably benign Het
Kirrel3 A G 9: 35,000,963 I208V probably benign Het
Lrrc8a G T 2: 30,255,345 C57F probably damaging Het
Ltbp1 A G 17: 75,276,509 N435D possibly damaging Het
Myo16 A T 8: 10,370,955 Y265F probably damaging Het
Nckap5 A G 1: 125,940,242 probably benign Het
Nlrp12 A C 7: 3,240,407 S492A probably damaging Het
Pwwp2b A T 7: 139,254,928 D95V possibly damaging Het
Rarg T A 15: 102,238,835 I372F probably damaging Het
Snrnp200 T C 2: 127,238,063 I1920T probably damaging Het
Sv2b A G 7: 75,117,741 F636L probably benign Het
Thra G A 11: 98,764,352 V353I probably benign Het
Tm7sf2 A G 19: 6,066,422 probably benign Het
Tmx4 A T 2: 134,600,998 probably null Het
Tnfrsf12a A G 17: 23,676,145 probably null Het
Uba5 T A 9: 104,054,148 T241S probably benign Het
Zfp420 A G 7: 29,874,562 D69G probably benign Het
Zfp64 A T 2: 168,925,715 I659N possibly damaging 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
IGL03346:Hibch APN 1 52920380 unclassified probably benign
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 splice site 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 On2012-12-17