Incidental Mutation 'R3966:Cyp1a1'
ID 312356
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 040935-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R3966 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 57595211-57611107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57607432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 20 (V20D)
Ref Sequence ENSEMBL: ENSMUSP00000150277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034865] [ENSMUST00000216433]
AlphaFold P00184
Predicted Effect probably benign
Transcript: ENSMUST00000034865
AA Change: V20D

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034865
Gene: ENSMUSG00000032315
AA Change: V20D

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 44 509 2.3e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216433
AA Change: V20D

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 96% (47/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T C 1: 89,762,183 (GRCm39) I371T probably damaging Het
Brwd1 G A 16: 95,845,730 (GRCm39) T731I probably damaging Het
C1galt1c1 A T X: 37,720,453 (GRCm39) V181E probably benign Het
C3 A G 17: 57,525,664 (GRCm39) V864A probably damaging Het
Cadps A T 14: 12,522,161 (GRCm38) probably null Het
Cemip T A 7: 83,600,717 (GRCm39) Y968F probably benign Het
Ces1g C A 8: 94,055,139 (GRCm39) R186L possibly damaging Het
Chd2 A G 7: 73,114,143 (GRCm39) probably benign Het
Clptm1l T C 13: 73,764,091 (GRCm39) Y404H probably damaging Het
CN725425 T A 15: 91,126,890 (GRCm39) probably null Het
Ctc1 T A 11: 68,921,954 (GRCm39) V800D probably damaging Het
E330034G19Rik G T 14: 24,356,939 (GRCm39) M158I unknown Het
Ehbp1l1 C T 19: 5,760,601 (GRCm39) probably null Het
Gm14137 T A 2: 119,005,497 (GRCm39) S19T probably benign Het
Gpr141b A G 13: 19,913,614 (GRCm39) noncoding transcript Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Inhbb C A 1: 119,345,291 (GRCm39) G333W probably damaging Het
Kcnb1 C T 2: 166,946,412 (GRCm39) C812Y probably damaging Het
Kdm4c A G 4: 74,216,820 (GRCm39) D193G probably damaging Het
Mbd5 A T 2: 49,162,082 (GRCm39) I855L possibly damaging Het
Mcpt1 G A 14: 56,256,503 (GRCm39) V80M probably benign Het
Med31 C T 11: 72,102,755 (GRCm39) A118T probably benign Het
Megf10 A G 18: 57,313,646 (GRCm39) D30G probably damaging Het
Ms4a6b T C 19: 11,499,098 (GRCm39) S71P probably benign Het
Muc2 G A 7: 141,286,233 (GRCm39) R120H probably benign Het
Mycbp2 A G 14: 103,376,161 (GRCm39) probably benign Het
Myrf T C 19: 10,196,979 (GRCm39) E267G probably benign Het
Ncor1 T C 11: 62,235,583 (GRCm39) T624A probably damaging Het
Nfat5 G T 8: 108,093,921 (GRCm39) A721S possibly damaging Het
Nfatc2 C T 2: 168,346,469 (GRCm39) S875N probably benign Het
Npm1 C T 11: 33,110,350 (GRCm39) G148D probably benign Het
Nrap T C 19: 56,330,576 (GRCm39) S1126G probably damaging Het
Nucb2 A G 7: 116,128,110 (GRCm39) E273G probably damaging Het
Prkd1 C T 12: 50,439,724 (GRCm39) E368K probably benign Het
Ptgs2 T A 1: 149,981,226 (GRCm39) I503N probably damaging Het
Qrfpr A G 3: 36,235,149 (GRCm39) S243P possibly damaging Het
Safb2 T C 17: 56,882,356 (GRCm39) S426G probably null Het
Sos1 C T 17: 80,762,608 (GRCm39) R73H probably damaging Het
Spink10 T C 18: 62,790,975 (GRCm39) I87T probably damaging Het
Tet2 A G 3: 133,193,418 (GRCm39) S339P possibly damaging Het
Timd5 T A 11: 46,426,340 (GRCm39) V149D possibly damaging Het
Tmx4 T C 2: 134,441,981 (GRCm39) I206V possibly damaging Het
Tom1 A G 8: 75,785,867 (GRCm39) K360E probably benign Het
Trp73 A G 4: 154,146,493 (GRCm39) V422A probably benign Het
Vmn2r33 T C 7: 7,557,168 (GRCm39) M511V probably benign Het
Zfp628 T C 7: 4,924,744 (GRCm39) S989P probably benign 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
R2216:Cyp1a1 UTSW 9 57,609,352 (GRCm39) splice site probably null
R2394: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
(F):5'- ACAAGCTCTGTCCTGCTCTATG -3'
(R):5'- TGCCATTAGTGATAAGTGTGAAGC -3'

Sequencing Primer
(F):5'- TCTATGCCCAGGGAACAGCTC -3'
(R):5'- AAGCTGTAGAGGTCTGGCC -3'
Posted On 2015-04-29