Incidental Mutation 'R6998:Cyp8b1'
ID 544351
Institutional Source Beutler Lab
Gene Symbol Cyp8b1
Ensembl Gene ENSMUSG00000050445
Gene Name cytochrome P450, family 8, subfamily b, polypeptide 1
Synonyms sterol 12-alpha-hydrolase
MMRRC Submission 045010-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.449) question?
Stock # R6998 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 121743422-121745371 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121745059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 91 (N91S)
Ref Sequence ENSEMBL: ENSMUSP00000052989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050327] [ENSMUST00000062474] [ENSMUST00000214340]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000050327
SMART Domains Protein: ENSMUSP00000050119
Gene: ENSMUSG00000044534

low complexity region 18 29 N/A INTRINSIC
Pfam:7tm_1 62 311 1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000062474
AA Change: N91S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052989
Gene: ENSMUSG00000050445
AA Change: N91S

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,070,026 (GRCm39) R620G probably benign Het
Adcy1 A C 11: 7,029,026 (GRCm39) N259H probably damaging Het
Ahctf1 G A 1: 179,598,480 (GRCm39) R2* probably null Het
Akr1c21 A G 13: 4,633,850 (GRCm39) I306M probably benign Het
Alg9 T A 9: 50,700,921 (GRCm39) S230R possibly damaging Het
Armt1 T A 10: 4,403,937 (GRCm39) C341S probably benign Het
Aspg T A 12: 112,078,628 (GRCm39) L29M probably damaging Het
Aspm C T 1: 139,397,210 (GRCm39) T934I probably damaging Het
C1rl T C 6: 124,485,861 (GRCm39) S411P probably damaging Het
Card14 A G 11: 119,213,725 (GRCm39) E224G probably damaging Het
Ccdc88c T C 12: 100,883,111 (GRCm39) H1587R probably damaging Het
Ccp110 A G 7: 118,332,120 (GRCm39) T963A possibly damaging Het
Cdk11b G A 4: 155,732,800 (GRCm39) W546* probably null Het
Dab2 G T 15: 6,454,130 (GRCm39) M213I possibly damaging Het
Decr1 A G 4: 15,930,960 (GRCm39) V124A probably damaging Het
Fbxl13 T A 5: 21,748,687 (GRCm39) I411F probably damaging Het
Fbxl13 T C 5: 21,825,611 (GRCm39) I164V probably null Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Garem2 T C 5: 30,319,168 (GRCm39) M210T possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Ighv1-52 C A 12: 115,109,112 (GRCm39) A115S probably benign Het
Igkv6-13 A G 6: 70,434,573 (GRCm39) S91P probably damaging Het
Ints8 T A 4: 11,204,537 (GRCm39) E973V possibly damaging Het
Itga3 T C 11: 94,942,288 (GRCm39) K972R probably benign Het
Klhl33 A T 14: 51,130,478 (GRCm39) F339I probably benign Het
Krt79 T C 15: 101,846,307 (GRCm39) M214V probably benign Het
Lgsn A T 1: 31,243,274 (GRCm39) H452L probably benign Het
Limd2 C T 11: 106,049,516 (GRCm39) G124D probably benign Het
Luzp1 T C 4: 136,270,755 (GRCm39) S993P probably damaging Het
Maml2 C T 9: 13,532,481 (GRCm39) probably benign Het
Mbtd1 A T 11: 93,815,438 (GRCm39) H342L probably damaging Het
Mfhas1 C A 8: 36,058,510 (GRCm39) P995Q probably damaging Het
Muc5ac T C 7: 141,372,451 (GRCm39) F3399S possibly damaging Het
Napb T C 2: 148,542,345 (GRCm39) Y205C probably damaging Het
Odf2 G T 2: 29,802,629 (GRCm39) A298S probably benign Het
Or11g7 A T 14: 50,690,890 (GRCm39) Y127F probably benign Het
Or4s2b A T 2: 88,508,852 (GRCm39) I218F probably benign Het
Or8k35 A T 2: 86,424,488 (GRCm39) M228K probably damaging Het
Pcsk5 T C 19: 17,450,476 (GRCm39) D1124G probably benign Het
Pik3c2b T G 1: 133,030,110 (GRCm39) I1457S probably benign Het
Pole2 T C 12: 69,260,680 (GRCm39) T167A possibly damaging Het
Rfx7 T A 9: 72,525,787 (GRCm39) S992R probably damaging Het
Ryr2 G T 13: 11,727,052 (GRCm39) S2436R probably damaging Het
Sgo2a A G 1: 58,055,799 (GRCm39) D661G probably damaging Het
Sh3glb2 T A 2: 30,245,333 (GRCm39) T49S probably damaging Het
Slc16a10 T C 10: 39,932,499 (GRCm39) K354R possibly damaging Het
Slc6a6 C A 6: 91,729,419 (GRCm39) T568K probably benign Het
Sptbn1 T C 11: 30,050,633 (GRCm39) T2319A probably damaging Het
Tbl1xr1 T A 3: 22,233,454 (GRCm39) Y15N probably damaging Het
Thyn1 T C 9: 26,917,738 (GRCm39) S160P probably damaging Het
Tshz1 A T 18: 84,033,966 (GRCm39) D147E probably benign Het
Vmn2r50 T G 7: 9,771,684 (GRCm39) R672S probably benign Het
Zfp663 A T 2: 165,195,922 (GRCm39) I99N possibly damaging Het
Other mutations in Cyp8b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Cyp8b1 APN 9 121,744,061 (GRCm39) missense probably damaging 0.98
IGL01874:Cyp8b1 APN 9 121,744,969 (GRCm39) missense possibly damaging 0.71
IGL02004:Cyp8b1 APN 9 121,744,058 (GRCm39) missense probably benign 0.01
IGL02218:Cyp8b1 APN 9 121,744,183 (GRCm39) missense probably damaging 1.00
IGL02606:Cyp8b1 APN 9 121,744,801 (GRCm39) missense probably damaging 1.00
IGL02724:Cyp8b1 APN 9 121,744,453 (GRCm39) missense probably benign 0.12
IGL02796:Cyp8b1 UTSW 9 121,744,564 (GRCm39) missense probably benign
R1052:Cyp8b1 UTSW 9 121,744,348 (GRCm39) missense possibly damaging 0.67
R1223:Cyp8b1 UTSW 9 121,744,070 (GRCm39) missense possibly damaging 0.71
R1572:Cyp8b1 UTSW 9 121,744,024 (GRCm39) missense possibly damaging 0.94
R1639:Cyp8b1 UTSW 9 121,743,956 (GRCm39) missense probably benign 0.01
R3833:Cyp8b1 UTSW 9 121,745,109 (GRCm39) missense probably benign 0.00
R3938:Cyp8b1 UTSW 9 121,744,684 (GRCm39) missense probably benign 0.05
R4151:Cyp8b1 UTSW 9 121,745,134 (GRCm39) missense probably damaging 1.00
R4615:Cyp8b1 UTSW 9 121,745,164 (GRCm39) nonsense probably null
R4625:Cyp8b1 UTSW 9 121,744,651 (GRCm39) missense probably damaging 0.99
R5327:Cyp8b1 UTSW 9 121,743,950 (GRCm39) missense probably damaging 0.99
R6391:Cyp8b1 UTSW 9 121,744,864 (GRCm39) nonsense probably null
R7086:Cyp8b1 UTSW 9 121,744,355 (GRCm39) missense probably benign 0.02
R7162:Cyp8b1 UTSW 9 121,744,777 (GRCm39) missense probably damaging 0.99
R7210:Cyp8b1 UTSW 9 121,744,246 (GRCm39) missense probably damaging 1.00
R7223:Cyp8b1 UTSW 9 121,744,163 (GRCm39) missense probably damaging 1.00
R8352:Cyp8b1 UTSW 9 121,744,997 (GRCm39) missense probably damaging 0.97
R8392:Cyp8b1 UTSW 9 121,744,300 (GRCm39) missense probably damaging 0.98
R8452:Cyp8b1 UTSW 9 121,744,997 (GRCm39) missense probably damaging 0.97
R8672:Cyp8b1 UTSW 9 121,743,986 (GRCm39) missense probably benign 0.00
R8897:Cyp8b1 UTSW 9 121,745,358 (GRCm39) start gained probably benign
R9484:Cyp8b1 UTSW 9 121,744,983 (GRCm39) missense probably benign 0.00
R9764:Cyp8b1 UTSW 9 121,744,294 (GRCm39) missense probably benign 0.03
RF013:Cyp8b1 UTSW 9 121,744,561 (GRCm39) missense possibly damaging 0.59
Z1177:Cyp8b1 UTSW 9 121,745,212 (GRCm39) missense probably damaging 1.00
Z1177:Cyp8b1 UTSW 9 121,744,597 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-05-13