Incidental Mutation 'IGL02004:Cyp8b1'
ID182222
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp8b1
Ensembl Gene ENSMUSG00000050445
Gene Namecytochrome P450, family 8, subfamily b, polypeptide 1
Synonymssterol 12-alpha-hydrolase
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.310) question?
Stock #IGL02004
Quality Score
Status
Chromosome9
Chromosomal Location121914356-121916305 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121914992 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 425 (I425V)
Ref Sequence ENSEMBL: ENSMUSP00000052989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050327] [ENSMUST00000062474] [ENSMUST00000214340]
Predicted Effect probably benign
Transcript: ENSMUST00000050327
SMART Domains Protein: ENSMUSP00000050119
Gene: ENSMUSG00000044534

DomainStartEndE-ValueType
low complexity region 18 29 N/A INTRINSIC
Pfam:7tm_1 62 311 1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000062474
AA Change: I425V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000052989
Gene: ENSMUSG00000050445
AA Change: I425V

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
Pfam:p450 32 492 5.7e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214340
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 a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele lack synthsesis of cholate (a primary bile acid) and its metabolites and display an increased bile acid pool and alterations in cholesterol metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G T 11: 72,191,597 A301E possibly damaging Het
C4b A T 17: 34,739,010 probably benign Het
Cep85 A G 4: 134,167,387 V36A probably damaging Het
Cnot10 A T 9: 114,622,930 F259L probably damaging Het
Crim1 T C 17: 78,372,575 probably benign Het
Crispld1 G A 1: 17,747,520 A216T probably damaging Het
Fat2 A T 11: 55,282,840 V2349D probably damaging Het
Fer G T 17: 63,924,179 probably null Het
Galnt3 T C 2: 66,095,926 T313A probably damaging Het
Gm4450 T A 3: 98,456,419 R37W probably damaging Het
Igkv10-94 A T 6: 68,704,944 L12* probably null Het
Kcnj3 G A 2: 55,437,231 D11N probably benign Het
Kit T A 5: 75,621,014 S368T probably benign Het
Mark1 G A 1: 184,912,589 S390L possibly damaging Het
Mpped1 C A 15: 83,800,156 S126R probably damaging Het
Myh15 A C 16: 49,110,529 probably benign Het
Nat1 G A 8: 67,491,226 E85K probably benign Het
Olfr1500 T C 19: 13,828,063 D111G possibly damaging Het
Pde3b A T 7: 114,519,617 M664L possibly damaging Het
Phrf1 A G 7: 141,260,333 D1147G probably benign Het
Pth1r G T 9: 110,742,308 probably benign Het
Shank3 C T 15: 89,503,299 probably benign Het
Slc39a7 A C 17: 34,031,121 probably benign Het
Slc6a1 A G 6: 114,314,325 T520A probably benign Het
St3gal2 C A 8: 110,970,172 A317E probably damaging Het
St3gal3 C A 4: 117,960,039 L139F possibly damaging Het
Sval3 T A 6: 41,972,842 probably benign Het
Syvn1 G A 19: 6,052,407 A502T probably benign Het
Tm4sf1 T C 3: 57,293,078 I68V possibly damaging Het
Tnrc6a T A 7: 123,181,366 N1326K possibly damaging Het
Tvp23b G A 11: 62,892,000 C174Y probably damaging Het
Zfp750 T C 11: 121,512,149 D591G probably benign Het
Other mutations in Cyp8b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Cyp8b1 APN 9 121914995 missense probably damaging 0.98
IGL01874:Cyp8b1 APN 9 121915903 missense possibly damaging 0.71
IGL02218:Cyp8b1 APN 9 121915117 missense probably damaging 1.00
IGL02606:Cyp8b1 APN 9 121915735 missense probably damaging 1.00
IGL02724:Cyp8b1 APN 9 121915387 missense probably benign 0.12
IGL02796:Cyp8b1 UTSW 9 121915498 missense probably benign
R1052:Cyp8b1 UTSW 9 121915282 missense possibly damaging 0.67
R1223:Cyp8b1 UTSW 9 121915004 missense possibly damaging 0.71
R1572:Cyp8b1 UTSW 9 121914958 missense possibly damaging 0.94
R1639:Cyp8b1 UTSW 9 121914890 missense probably benign 0.01
R3833:Cyp8b1 UTSW 9 121916043 missense probably benign 0.00
R3938:Cyp8b1 UTSW 9 121915618 missense probably benign 0.05
R4151:Cyp8b1 UTSW 9 121916068 missense probably damaging 1.00
R4615:Cyp8b1 UTSW 9 121916098 nonsense probably null
R4625:Cyp8b1 UTSW 9 121915585 missense probably damaging 0.99
R5327:Cyp8b1 UTSW 9 121914884 missense probably damaging 0.99
R6391:Cyp8b1 UTSW 9 121915798 nonsense probably null
R6998:Cyp8b1 UTSW 9 121915993 missense probably benign
R7086:Cyp8b1 UTSW 9 121915289 missense probably benign 0.02
R7162:Cyp8b1 UTSW 9 121915711 missense probably damaging 0.99
R7210:Cyp8b1 UTSW 9 121915180 missense probably damaging 1.00
R7223:Cyp8b1 UTSW 9 121915097 missense probably damaging 1.00
RF013:Cyp8b1 UTSW 9 121915495 missense possibly damaging 0.59
Z1177:Cyp8b1 UTSW 9 121916146 missense probably damaging 1.00
Z1177:Cyp8b1 UTSW 9 121915531 missense probably benign 0.06
Posted On2014-05-07