Incidental Mutation 'R5070:Cyp1b1'
ID 388719
Institutional Source Beutler Lab
Gene Symbol Cyp1b1
Ensembl Gene ENSMUSG00000024087
Gene Name cytochrome P450, family 1, subfamily b, polypeptide 1
Synonyms
MMRRC Submission 042660-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.372) question?
Stock # R5070 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 80014369-80022490 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80018040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 372 (M372L)
Ref Sequence ENSEMBL: ENSMUSP00000024894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024894]
AlphaFold Q64429
Predicted Effect probably benign
Transcript: ENSMUST00000024894
AA Change: M372L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024894
Gene: ENSMUSG00000024087
AA Change: M372L

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:p450 51 520 1.3e-100 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.0%
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. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA, show a decreased incidence of DMBA-induced lymphomas, and display background-sensitive ocular abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,383,749 (GRCm39) S739P possibly damaging Het
Acacb T C 5: 114,384,089 (GRCm39) I2206T possibly damaging Het
Actn2 A G 13: 12,303,408 (GRCm39) I464T possibly damaging Het
AI987944 C T 7: 41,024,748 (GRCm39) G77D probably benign Het
Ankar T C 1: 72,719,369 (GRCm39) probably null Het
Armc9 A T 1: 86,184,959 (GRCm39) H670L probably benign Het
Arvcf A G 16: 18,217,736 (GRCm39) Y412C probably damaging Het
Baiap3 A T 17: 25,468,082 (GRCm39) C283S probably damaging Het
Bend3 A T 10: 43,369,681 (GRCm39) E11D probably damaging Het
Birc6 C T 17: 74,872,967 (GRCm39) R409C probably damaging Het
Cds2 T A 2: 132,144,008 (GRCm39) Y4* probably null Het
Celsr1 G T 15: 85,823,335 (GRCm39) P1691Q possibly damaging Het
Chmp1a A T 8: 123,933,054 (GRCm39) V133E probably benign Het
Cnbd2 T C 2: 156,177,318 (GRCm39) V92A probably damaging Het
Comp G A 8: 70,829,145 (GRCm39) G272S probably benign Het
Csnk1a1 T A 18: 61,688,852 (GRCm39) F11I probably benign Het
Ctse A G 1: 131,595,917 (GRCm39) D203G probably damaging Het
Cyp2c66 T A 19: 39,151,914 (GRCm39) S210T probably benign Het
Dnah1 G A 14: 31,004,375 (GRCm39) P2385S probably benign Het
Dsp A C 13: 38,381,099 (GRCm39) T2615P possibly damaging Het
Eif4g3 A G 4: 137,873,610 (GRCm39) T682A probably benign Het
Enpp2 T C 15: 54,727,450 (GRCm39) Y513C probably damaging Het
Ercc6 T C 14: 32,292,020 (GRCm39) V1128A probably benign Het
Fam136b-ps C T 15: 31,276,862 (GRCm39) probably benign Het
Fbxl7 T A 15: 26,789,640 (GRCm39) H29L probably benign Het
Fbxw22 A G 9: 109,214,183 (GRCm39) V211A probably benign Het
Frk A T 10: 34,360,280 (GRCm39) K94* probably null Het
G0s2 T A 1: 192,954,870 (GRCm39) E71D probably damaging Het
Gfpt1 A G 6: 87,030,727 (GRCm39) probably null Het
Gga1 A G 15: 78,776,217 (GRCm39) D420G possibly damaging Het
Gldc T C 19: 30,095,998 (GRCm39) Q671R possibly damaging Het
Gpc6 A G 14: 117,424,181 (GRCm39) T90A probably benign Het
Gucy2g C A 19: 55,218,219 (GRCm39) V410F probably damaging Het
Ifnlr1 T C 4: 135,431,509 (GRCm39) S233P probably benign Het
Ighv1-9 A T 12: 114,547,377 (GRCm39) W55R probably damaging Het
Igsf10 T A 3: 59,235,714 (GRCm39) H1489L probably benign Het
Il17re T C 6: 113,435,971 (GRCm39) L39P probably damaging Het
Irag1 A G 7: 110,524,519 (GRCm39) S208P probably benign Het
Kcna2 T A 3: 107,011,953 (GRCm39) V178D probably damaging Het
Kcnk3 A G 5: 30,779,730 (GRCm39) H260R possibly damaging Het
Kctd19 T C 8: 106,118,631 (GRCm39) Y287C probably damaging Het
Klhl28 A T 12: 65,004,486 (GRCm39) M9K probably benign Het
Lama2 A G 10: 27,226,247 (GRCm39) probably null Het
Lrrc27 A T 7: 138,794,715 (GRCm39) D26V probably damaging Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Mei1 T A 15: 81,961,804 (GRCm39) C188S possibly damaging Het
Mettl13 C T 1: 162,373,468 (GRCm39) R261H possibly damaging Het
Mex3a A T 3: 88,443,694 (GRCm39) I257F probably damaging Het
Mib1 A G 18: 10,793,002 (GRCm39) E646G probably damaging Het
Mier2 T C 10: 79,385,411 (GRCm39) D139G probably benign Het
Mmp14 T A 14: 54,676,570 (GRCm39) Y372N probably damaging Het
Myh14 A G 7: 44,265,672 (GRCm39) V1569A possibly damaging Het
Myo18b T C 5: 112,909,212 (GRCm39) E1977G probably damaging Het
Myo3b T C 2: 70,083,456 (GRCm39) L675P probably damaging Het
N4bp1 A G 8: 87,587,165 (GRCm39) V591A probably damaging Het
Nedd9 C A 13: 41,470,074 (GRCm39) V360L probably benign Het
Oit3 C T 10: 59,259,849 (GRCm39) R518H probably damaging Het
Or10ag57 T G 2: 87,218,507 (GRCm39) C153G probably damaging Het
Or11g2 A G 14: 50,855,931 (GRCm39) N84S probably benign Het
Or11g2 T A 14: 50,856,197 (GRCm39) C173S probably damaging Het
Or11h4 C A 14: 50,974,531 (GRCm39) L29F probably benign Het
Or1j14 T A 2: 36,417,778 (GRCm39) M118K probably damaging Het
Or2aj6 A G 16: 19,443,742 (GRCm39) I36T possibly damaging Het
Or2j6 A G 7: 139,980,482 (GRCm39) V159A probably benign Het
Or9s23 T A 1: 92,501,135 (GRCm39) S81T probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pask A T 1: 93,258,596 (GRCm39) C251S probably damaging Het
Pdzk1 A T 3: 96,757,637 (GRCm39) D31V probably benign Het
Pmfbp1 A T 8: 110,256,787 (GRCm39) Q497L probably damaging Het
Pofut1 T C 2: 153,103,486 (GRCm39) probably benign Het
Polr2h A G 16: 20,540,716 (GRCm39) N95S probably damaging Het
Pou2f3 A G 9: 43,056,578 (GRCm39) V93A possibly damaging Het
Ppfia1 G A 7: 144,068,210 (GRCm39) Q446* probably null Het
Prkd1 A T 12: 50,441,405 (GRCm39) L327* probably null Het
Prrt4 T C 6: 29,177,511 (GRCm39) E86G probably benign Het
Psen2 T C 1: 180,056,422 (GRCm39) I393V probably benign Het
Psma2 G A 13: 14,790,613 (GRCm39) V20I probably benign Het
Qser1 C T 2: 104,617,627 (GRCm39) V1062I possibly damaging Het
Rab11b G T 17: 33,967,855 (GRCm39) A114D probably damaging Het
Rag1 A T 2: 101,472,656 (GRCm39) W829R probably damaging Het
Rgl3 A G 9: 21,899,340 (GRCm39) probably null Het
Rgs8 C T 1: 153,541,650 (GRCm39) T3I probably damaging Het
Rnf17 T C 14: 56,743,385 (GRCm39) V1317A probably damaging Het
Rps6kb2 A T 19: 4,213,227 (GRCm39) D6E probably damaging Het
Shisal1 G T 15: 84,304,364 (GRCm39) A14E possibly damaging Het
Skint5 T A 4: 113,652,735 (GRCm39) I630F unknown Het
Skint7 T C 4: 111,841,331 (GRCm39) L257P probably damaging Het
Slc11a1 G A 1: 74,424,343 (GRCm39) A434T probably damaging Het
Slc5a8 A T 10: 88,722,460 (GRCm39) I98F possibly damaging Het
Sorl1 T C 9: 41,943,114 (GRCm39) K921E possibly damaging Het
Stub1 A G 17: 26,051,112 (GRCm39) L90P probably damaging Het
Sycp1 A T 3: 102,827,881 (GRCm39) S289T probably damaging Het
Taar7b T G 10: 23,876,359 (GRCm39) S175A probably benign Het
Tead3 T C 17: 28,560,451 (GRCm39) K51R probably benign Het
Tmed11 T A 5: 108,943,089 (GRCm39) I30L probably benign Het
Tmem131 A G 1: 36,893,986 (GRCm39) I139T probably damaging Het
Tmem191 A G 16: 17,095,559 (GRCm39) Q206R probably null Het
Tph2 T A 10: 114,987,079 (GRCm39) Y237F probably benign Het
Trim35 C T 14: 66,546,421 (GRCm39) probably benign Het
Tsc22d1 T C 14: 76,655,750 (GRCm39) I661T probably benign Het
Ttc27 T A 17: 75,106,337 (GRCm39) H541Q probably damaging Het
Uqcrq A G 11: 53,320,954 (GRCm39) probably null Het
Vmn1r215 T A 13: 23,260,666 (GRCm39) S235R probably benign Het
Vmn1r70 T C 7: 10,368,325 (GRCm39) V271A probably benign Het
Vps13a G A 19: 16,631,848 (GRCm39) R2596C probably benign Het
Vwa7 G A 17: 35,243,166 (GRCm39) V615I probably benign Het
Wdr90 T C 17: 26,065,307 (GRCm39) T1650A probably damaging Het
Zbtb32 T A 7: 30,290,891 (GRCm39) M135L probably benign Het
Zc2hc1c A G 12: 85,337,288 (GRCm39) D315G probably benign Het
Zfc3h1 T A 10: 115,254,688 (GRCm39) C1427* probably null Het
Zfp30 A G 7: 29,485,691 (GRCm39) probably benign Het
Zfp428 T A 7: 24,214,550 (GRCm39) D55E probably damaging Het
Zfyve26 A T 12: 79,302,135 (GRCm39) N1820K probably damaging Het
Zw10 C A 9: 48,988,759 (GRCm39) S675* probably null Het
Other mutations in Cyp1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0387:Cyp1b1 UTSW 17 80,021,203 (GRCm39) missense probably benign
R0400:Cyp1b1 UTSW 17 80,021,016 (GRCm39) missense probably damaging 1.00
R0456:Cyp1b1 UTSW 17 80,017,704 (GRCm39) missense probably benign 0.02
R0681:Cyp1b1 UTSW 17 80,021,275 (GRCm39) missense probably damaging 0.97
R2851:Cyp1b1 UTSW 17 80,017,649 (GRCm39) missense probably benign 0.00
R2897:Cyp1b1 UTSW 17 80,021,160 (GRCm39) missense probably benign 0.00
R4706:Cyp1b1 UTSW 17 80,020,771 (GRCm39) missense possibly damaging 0.86
R6104:Cyp1b1 UTSW 17 80,017,634 (GRCm39) missense probably damaging 1.00
R6195:Cyp1b1 UTSW 17 80,021,695 (GRCm39) missense probably damaging 1.00
R6233:Cyp1b1 UTSW 17 80,021,695 (GRCm39) missense probably damaging 1.00
R7440:Cyp1b1 UTSW 17 80,020,986 (GRCm39) missense probably damaging 0.99
R7770:Cyp1b1 UTSW 17 80,020,728 (GRCm39) missense probably damaging 1.00
R7894:Cyp1b1 UTSW 17 80,021,644 (GRCm39) missense possibly damaging 0.81
R7982:Cyp1b1 UTSW 17 80,017,919 (GRCm39) missense probably damaging 1.00
R8241:Cyp1b1 UTSW 17 80,021,223 (GRCm39) missense probably damaging 1.00
R8528:Cyp1b1 UTSW 17 80,017,993 (GRCm39) missense probably damaging 1.00
R8814:Cyp1b1 UTSW 17 80,020,788 (GRCm39) missense probably benign 0.02
R9743:Cyp1b1 UTSW 17 80,017,808 (GRCm39) missense probably benign 0.33
X0067:Cyp1b1 UTSW 17 80,018,120 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ATCAAAGTCCTCTGGGTTAGGC -3'
(R):5'- TGTGCTGCTAAGGAAAGATGAACTG -3'

Sequencing Primer
(F):5'- GCTGGGTCATGATTCACAGAC -3'
(R):5'- GGAAAGATGAACTGATTTTCTCTCTC -3'
Posted On 2016-06-06