Incidental Mutation 'R2216:Cyp1a1'
ID 241162
Institutional Source Beutler Lab
Gene Symbol Cyp1a1
Ensembl Gene ENSMUSG00000032315
Gene Name cytochrome P450, family 1, subfamily a, polypeptide 1
Synonyms P450-1, cytochrome P450 subfamily I, polypeptide 1
MMRRC Submission 040218-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R2216 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 57595211-57611107 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 57609352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034865] [ENSMUST00000216433]
AlphaFold P00184
Predicted Effect probably null
Transcript: ENSMUST00000034865
SMART Domains Protein: ENSMUSP00000034865
Gene: ENSMUSG00000032315

transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 44 509 2.3e-111 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000216433
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP1A1, 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 protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele display resitance to some signs of TCDD induced toxicity but do not display any gross abnormalities in the abscence of treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 G T 11: 71,922,272 (GRCm39) P146T probably damaging Het
Arnt2 T A 7: 83,924,559 (GRCm39) T423S probably damaging Het
Bend5 A G 4: 111,305,787 (GRCm39) N277S probably null Het
Cd22 G T 7: 30,566,471 (GRCm39) T816N probably damaging Het
Cep126 G A 9: 8,120,679 (GRCm39) R115C probably damaging Het
Cep85 T C 4: 133,858,741 (GRCm39) H710R possibly damaging Het
Cmya5 A T 13: 93,230,003 (GRCm39) L1695H probably damaging Het
Col24a1 T C 3: 145,020,742 (GRCm39) V371A probably benign Het
Csmd1 T A 8: 17,077,355 (GRCm39) probably null Het
Dennd1c C T 17: 57,381,492 (GRCm39) probably null Het
Dmxl1 G A 18: 50,026,990 (GRCm39) V2033I probably benign Het
Dtna A G 18: 23,702,622 (GRCm39) H51R probably damaging Het
Dysf G A 6: 84,184,227 (GRCm39) probably null Het
Gcn1 T A 5: 115,731,720 (GRCm39) V945E probably benign Het
Gpbar1 C G 1: 74,318,053 (GRCm39) L99V probably damaging Het
Hdac9 A T 12: 34,479,516 (GRCm39) D212E probably damaging Het
Itga1 A T 13: 115,133,565 (GRCm39) D448E probably benign Het
Itga2b T A 11: 102,358,692 (GRCm39) N75I probably benign Het
Klra7 T C 6: 130,205,549 (GRCm39) E117G probably benign Het
Kmt2b G A 7: 30,273,490 (GRCm39) R2349C probably benign Het
Masp1 T C 16: 23,310,805 (GRCm39) N209S probably benign Het
Mybpc2 C T 7: 44,161,924 (GRCm39) probably null Het
Myh15 C G 16: 48,986,201 (GRCm39) S1557* probably null Het
Myo3a A C 2: 22,467,783 (GRCm39) T346P probably benign Het
Nim1k A G 13: 120,175,751 (GRCm39) Y152H probably damaging Het
Nrp2 C T 1: 62,802,077 (GRCm39) R507* probably null Het
Or13n4 T A 7: 106,423,205 (GRCm39) H176L probably damaging Het
Or5e1 C T 7: 108,354,819 (GRCm39) T252M probably damaging Het
Parp14 T C 16: 35,677,575 (GRCm39) I798V probably benign Het
Pcnx2 C T 8: 126,614,816 (GRCm39) A212T probably benign Het
Pkhd1l1 A T 15: 44,437,291 (GRCm39) H3522L probably damaging Het
Pram1 C T 17: 33,860,258 (GRCm39) A275V probably benign Het
Pramel18 T A 4: 101,767,257 (GRCm39) W169R probably damaging Het
Prkag1 A T 15: 98,713,827 (GRCm39) M1K probably null Het
Prss52 T C 14: 64,351,042 (GRCm39) S276P probably damaging Het
Ranbp17 A T 11: 33,431,125 (GRCm39) V284D probably damaging Het
Reln T C 5: 22,253,003 (GRCm39) D648G probably benign Het
Rnf112 A G 11: 61,343,105 (GRCm39) L190P probably damaging Het
Scn5a G T 9: 119,314,678 (GRCm39) P2010Q probably benign Het
Scn5a T C 9: 119,342,151 (GRCm39) Y1138C probably benign Het
Slc4a9 A G 18: 36,663,798 (GRCm39) H274R probably benign Het
Slc5a6 T G 5: 31,196,679 (GRCm39) E391D possibly damaging Het
Speer2 T C 16: 69,655,730 (GRCm39) Q32R possibly damaging Het
Tars1 A G 15: 11,389,794 (GRCm39) V372A probably benign Het
Thsd7a A T 6: 12,337,267 (GRCm39) L1250Q possibly damaging Het
Tnnt3 A G 7: 142,066,301 (GRCm39) Y222C probably benign Het
Trim40 T C 17: 37,199,875 (GRCm39) I68V probably benign Het
Trp53tg5 T C 2: 164,313,226 (GRCm39) I150V probably benign Het
Ube2u T C 4: 100,389,365 (GRCm39) V109A probably benign Het
Usp54 A T 14: 20,611,908 (GRCm39) D969E probably benign Het
Vil1 G T 1: 74,464,838 (GRCm39) R495L probably benign Het
Wfs1 T A 5: 37,124,564 (GRCm39) K700* probably null Het
Zcchc8 A G 5: 123,845,466 (GRCm39) L298P probably damaging Het
Zfp946 A T 17: 22,673,697 (GRCm39) Q150H possibly damaging Het
Other mutations in Cyp1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Cyp1a1 APN 9 57,607,990 (GRCm39) missense probably damaging 1.00
IGL02427:Cyp1a1 APN 9 57,607,858 (GRCm39) missense probably damaging 1.00
IGL02952:Cyp1a1 APN 9 57,609,993 (GRCm39) missense probably benign
IGL03002:Cyp1a1 APN 9 57,609,724 (GRCm39) splice site probably benign
IGL03085:Cyp1a1 APN 9 57,608,995 (GRCm39) missense possibly damaging 0.89
PIT1430001:Cyp1a1 UTSW 9 57,608,194 (GRCm39) missense probably benign 0.27
R0508:Cyp1a1 UTSW 9 57,607,588 (GRCm39) missense probably benign
R1844:Cyp1a1 UTSW 9 57,609,980 (GRCm39) missense probably benign
R2394:Cyp1a1 UTSW 9 57,607,432 (GRCm39) missense probably benign 0.13
R3966:Cyp1a1 UTSW 9 57,607,432 (GRCm39) missense probably benign 0.13
R4056:Cyp1a1 UTSW 9 57,607,432 (GRCm39) missense probably benign 0.13
R4367:Cyp1a1 UTSW 9 57,607,432 (GRCm39) missense probably benign
R4529:Cyp1a1 UTSW 9 57,608,962 (GRCm39) missense probably benign 0.01
R4616:Cyp1a1 UTSW 9 57,609,039 (GRCm39) missense probably benign 0.09
R4656:Cyp1a1 UTSW 9 57,609,893 (GRCm39) missense probably damaging 0.99
R5271:Cyp1a1 UTSW 9 57,610,121 (GRCm39) missense probably benign 0.01
R5324:Cyp1a1 UTSW 9 57,609,652 (GRCm39) missense probably benign 0.13
R6113:Cyp1a1 UTSW 9 57,609,174 (GRCm39) missense probably damaging 1.00
R6189:Cyp1a1 UTSW 9 57,607,966 (GRCm39) missense probably damaging 1.00
R6239:Cyp1a1 UTSW 9 57,609,361 (GRCm39) missense probably benign 0.36
R6382:Cyp1a1 UTSW 9 57,607,973 (GRCm39) missense probably damaging 0.99
R6750:Cyp1a1 UTSW 9 57,607,539 (GRCm39) missense probably benign
R6869:Cyp1a1 UTSW 9 57,610,067 (GRCm39) missense probably benign
R6881:Cyp1a1 UTSW 9 57,608,002 (GRCm39) missense possibly damaging 0.78
R6913:Cyp1a1 UTSW 9 57,607,576 (GRCm39) missense probably damaging 0.98
R7341:Cyp1a1 UTSW 9 57,608,107 (GRCm39) missense probably damaging 0.99
R7450:Cyp1a1 UTSW 9 57,609,415 (GRCm39) missense probably damaging 0.99
R7938:Cyp1a1 UTSW 9 57,609,073 (GRCm39) missense probably damaging 1.00
R8171:Cyp1a1 UTSW 9 57,607,479 (GRCm39) missense probably benign
R8322:Cyp1a1 UTSW 9 57,610,003 (GRCm39) missense probably damaging 0.97
R9025:Cyp1a1 UTSW 9 57,610,070 (GRCm39) missense possibly damaging 0.55
R9215:Cyp1a1 UTSW 9 57,609,456 (GRCm39) missense probably benign 0.00
R9599:Cyp1a1 UTSW 9 57,607,770 (GRCm39) missense probably benign 0.26
Z1176:Cyp1a1 UTSW 9 57,607,877 (GRCm39) missense probably benign 0.15
Z1177:Cyp1a1 UTSW 9 57,607,797 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-15