Incidental Mutation 'IGL02606:Cyp8b1'
ID300275
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? Probably non essential (E-score: 0.238) question?
Stock #IGL02606
Quality Score
Status
Chromosome9
Chromosomal Location121914356-121916305 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 121915735 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 177 (F177Y)
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 damaging
Transcript: ENSMUST00000062474
AA Change: F177Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052989
Gene: ENSMUSG00000050445
AA Change: F177Y

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,242,781 N74I probably benign Het
Abr T C 11: 76,479,164 K75R probably damaging Het
Adcy10 A C 1: 165,519,518 D368A possibly damaging Het
Alas1 A G 9: 106,241,110 probably benign Het
Alms1 T A 6: 85,599,967 D168E probably benign Het
Ankar C T 1: 72,690,285 A82T possibly damaging Het
Atp2c2 C T 8: 119,730,274 T205I probably benign Het
Atp9a A T 2: 168,652,668 L639Q probably damaging Het
Btf3l4 T C 4: 108,818,214 D134G probably benign Het
Cacna1s T C 1: 136,079,519 C425R probably damaging Het
Ccdc105 A G 10: 78,748,466 Y372H probably benign Het
Cct6b G T 11: 82,736,445 T322N probably damaging Het
Col19a1 G A 1: 24,534,116 R192* probably null Het
Dnajc11 T A 4: 151,979,484 N474K probably benign Het
Dusp16 T C 6: 134,761,036 E13G probably damaging Het
Ephx2 T C 14: 66,086,292 N397S probably damaging Het
Fancm T C 12: 65,076,139 V145A possibly damaging Het
Fiz1 A G 7: 5,009,159 L120P possibly damaging Het
Galnt6 C T 15: 100,714,219 V181M probably damaging Het
Ginm1 A G 10: 7,770,399 V279A probably damaging Het
Gja10 T G 4: 32,601,509 I292L probably benign Het
Gnb3 T C 6: 124,837,415 S136G probably benign Het
Gramd1a A T 7: 31,134,515 V495E probably damaging Het
Il1rn G T 2: 24,345,450 probably benign Het
Itpr3 A G 17: 27,114,512 probably benign Het
Kctd1 A G 18: 15,062,880 S229P possibly damaging Het
Kdm4a T C 4: 118,160,289 T527A probably benign Het
Kif14 C T 1: 136,496,593 A982V probably damaging Het
Klf6 A G 13: 5,866,735 K293R probably damaging Het
Letmd1 A G 15: 100,475,091 D92G probably damaging Het
Lmod1 G A 1: 135,364,480 V358M probably benign Het
Ndufs1 A T 1: 63,159,852 D295E probably damaging Het
Nek4 A G 14: 30,963,959 N283S probably benign Het
Nhsl1 A G 10: 18,511,637 T220A probably damaging Het
Nucks1 T A 1: 131,924,625 D71E probably damaging Het
Olfr1537 C A 9: 39,238,194 V77F probably damaging Het
Olfr732 T C 14: 50,282,073 Y60C probably damaging Het
Pkhd1l1 A G 15: 44,589,456 T3926A probably benign Het
Pptc7 T A 5: 122,313,588 probably benign Het
Prdm11 A G 2: 92,975,603 V334A probably benign Het
Ptdss2 C A 7: 141,152,998 C231* probably null Het
R3hdm1 C T 1: 128,190,719 P570S probably benign Het
Rlbp1 T C 7: 79,377,289 T208A possibly damaging Het
Rnaseh2a T G 8: 84,960,094 D142A probably damaging Het
Rufy4 C T 1: 74,133,350 probably benign Het
Tmem56 G T 3: 121,228,364 D128E possibly damaging Het
Ttn A G 2: 76,816,221 I11081T possibly damaging Het
Ubap2l A T 3: 90,038,428 S173R probably damaging Het
Vmn1r80 A G 7: 12,193,032 N23S probably damaging Het
Vwce C A 19: 10,655,348 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
IGL02004:Cyp8b1 APN 9 121914992 missense probably benign 0.01
IGL02218:Cyp8b1 APN 9 121915117 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
Posted On2015-04-16