Incidental Mutation 'R6104:Cyp1b1'
ID 485449
Institutional Source Beutler Lab
Gene Symbol Cyp1b1
Ensembl Gene ENSMUSG00000024087
Gene Name cytochrome P450, family 1, subfamily b, polypeptide 1
Synonyms
MMRRC Submission 044254-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.372) question?
Stock # R6104 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 80014369-80022490 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80017634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 507 (Y507F)
Ref Sequence ENSEMBL: ENSMUSP00000024894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024894]
AlphaFold Q64429
Predicted Effect probably damaging
Transcript: ENSMUST00000024894
AA Change: Y507F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024894
Gene: ENSMUSG00000024087
AA Change: Y507F

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:p450 51 520 1.3e-100 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 A T 4: 106,613,094 (GRCm39) L327Q probably damaging Het
Atrip C T 9: 108,894,632 (GRCm39) A432T possibly damaging Het
Chd6 T C 2: 160,856,052 (GRCm39) T736A probably damaging Het
Desi2 G A 1: 178,077,018 (GRCm39) R174H probably benign Het
Dop1a A T 9: 86,402,860 (GRCm39) K1351N possibly damaging Het
Fads2b T A 2: 85,338,693 (GRCm39) K149* probably null Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Fzd2 T C 11: 102,497,161 (GRCm39) I535T probably damaging Het
Gpr15 A G 16: 58,538,339 (GRCm39) F250S probably damaging Het
Grm6 T A 11: 50,750,144 (GRCm39) I466N possibly damaging Het
Il17a A G 1: 20,802,498 (GRCm39) Y69C probably damaging Het
Itgam A G 7: 127,715,474 (GRCm39) D938G possibly damaging Het
Kmt2c T C 5: 25,504,127 (GRCm39) D316G probably benign Het
Lrba C A 3: 86,261,099 (GRCm39) A1485E probably damaging Het
Marf1 G A 16: 13,935,319 (GRCm39) T1483I probably damaging Het
Myo18b T C 5: 113,022,157 (GRCm39) probably benign Het
Myo5b T A 18: 74,833,750 (GRCm39) I842N probably benign Het
Nckap5l C T 15: 99,321,869 (GRCm39) S1092N probably benign Het
Nelfcd T C 2: 174,265,250 (GRCm39) S273P probably damaging Het
Nt5c1b A G 12: 10,422,955 (GRCm39) N83D probably damaging Het
Oas3 T A 5: 120,899,758 (GRCm39) I709F unknown Het
Or1p1 C A 11: 74,180,192 (GRCm39) T240N probably damaging Het
Or8i2 T C 2: 86,852,057 (GRCm39) Y277C probably damaging Het
Pogz A G 3: 94,787,342 (GRCm39) D1310G probably benign Het
Ppfia1 A G 7: 144,045,311 (GRCm39) S949P possibly damaging Het
Pxylp1 A C 9: 96,706,800 (GRCm39) F461V possibly damaging Het
Rcn3 A G 7: 44,740,947 (GRCm39) Y54H probably damaging Het
Rnpepl1 A G 1: 92,843,606 (GRCm39) H242R probably benign Het
Rps6ka5 A T 12: 100,519,407 (GRCm39) D735E possibly damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr2 G A 13: 11,814,711 (GRCm39) T687M probably damaging Het
Scn11a A G 9: 119,624,744 (GRCm39) I526T probably damaging Het
Slc29a3 A G 10: 60,556,781 (GRCm39) V211A possibly damaging Het
Syt10 A T 15: 89,711,067 (GRCm39) H155Q probably benign Het
Taar8b A T 10: 23,968,135 (GRCm39) S20T probably damaging Het
Tenm4 A T 7: 96,486,496 (GRCm39) I988F probably damaging Het
Thoc2l T A 5: 104,666,084 (GRCm39) I202K probably damaging Het
Tlr3 A G 8: 45,856,130 (GRCm39) S17P probably benign Het
Tmem87a A G 2: 120,224,905 (GRCm39) S119P probably benign Het
Topaz1 A G 9: 122,578,931 (GRCm39) T614A probably benign Het
Vmn2r80 A C 10: 78,984,854 (GRCm39) N69H probably benign Het
Xylb T A 9: 119,193,573 (GRCm39) *66R probably null Het
Ylpm1 G A 12: 85,076,404 (GRCm39) R1043H probably benign Het
Ythdf3 G A 3: 16,259,325 (GRCm39) V491I possibly damaging 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
R5070:Cyp1b1 UTSW 17 80,018,040 (GRCm39) missense probably benign
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'- ATTCACTGCTGAGAGCTGAG -3'
(R):5'- CAAGGACGGCTTCATTAACAAGG -3'

Sequencing Primer
(F):5'- CTGAGGCCAAAAATGAAGCTG -3'
(R):5'- GGCTTCATTAACAAGGCGCTAGC -3'
Posted On 2017-08-16