Incidental Mutation 'R7341:Cyp1a1'
ID 569866
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 045431-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R7341 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 57595211-57611107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 57608107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 245 (R245L)
Ref Sequence ENSEMBL: ENSMUSP00000034865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034865] [ENSMUST00000216433]
AlphaFold P00184
Predicted Effect probably damaging
Transcript: ENSMUST00000034865
AA Change: R245L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034865
Gene: ENSMUSG00000032315
AA Change: R245L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 44 509 2.3e-111 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216433
AA Change: R245L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (92/92)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Adam3 T A 8: 25,177,996 (GRCm39) N639I possibly damaging Het
Adamtsl3 T A 7: 82,206,082 (GRCm39) C756S probably damaging Het
Arhgap31 C T 16: 38,532,876 (GRCm39) probably null Het
Ascl4 G A 10: 85,764,529 (GRCm39) A59T possibly damaging Het
Ash1l T A 3: 88,889,066 (GRCm39) I315N possibly damaging Het
Atp6v0d2 T C 4: 19,887,330 (GRCm39) D206G possibly damaging Het
Baz1b T A 5: 135,251,970 (GRCm39) L923I probably damaging Het
Birc6 T A 17: 74,919,069 (GRCm39) N1966K probably damaging Het
Bod1l T C 5: 41,946,200 (GRCm39) N3025S probably benign Het
Bub1b C A 2: 118,467,267 (GRCm39) H863Q possibly damaging Het
C1rb T A 6: 124,554,411 (GRCm39) Y397* probably null Het
Ccdc180 A G 4: 45,898,644 (GRCm39) E164G possibly damaging Het
Ccdc9 C T 7: 16,014,552 (GRCm39) V230M probably damaging Het
Cchcr1 C A 17: 35,837,610 (GRCm39) N437K probably benign Het
Cdhr2 T A 13: 54,867,305 (GRCm39) L408Q probably damaging Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Chd1 T C 17: 15,990,499 (GRCm39) S1684P probably damaging Het
CN725425 A G 15: 91,126,873 (GRCm39) Y221C possibly damaging Het
Col4a2 T C 8: 11,448,678 (GRCm39) V66A probably damaging Het
Cpd C A 11: 76,737,779 (GRCm39) R5L unknown Het
Cpeb4 C T 11: 31,868,807 (GRCm39) T422I possibly damaging Het
Cspg4b G T 13: 113,454,706 (GRCm39) G251C Het
Cyp4f39 A G 17: 32,705,928 (GRCm39) T340A probably damaging Het
Cyp4v3 A T 8: 45,774,787 (GRCm39) F122L probably benign Het
Drc1 T A 5: 30,521,812 (GRCm39) L728Q probably damaging Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Ecpas A T 4: 58,809,415 (GRCm39) V1653D possibly damaging Het
Ermp1 T A 19: 29,623,654 (GRCm39) H112L probably benign Het
Exoc8 T C 8: 125,623,320 (GRCm39) D349G probably damaging Het
Fam151a T A 4: 106,592,707 (GRCm39) M63K probably benign Het
Fmo9 C A 1: 166,504,115 (GRCm39) G149V probably damaging Het
Fndc8 A G 11: 82,789,603 (GRCm39) T254A possibly damaging Het
Foxi3 G A 6: 70,937,862 (GRCm39) V365I probably benign Het
Frem2 C T 3: 53,561,916 (GRCm39) G864S probably damaging Het
Fstl5 T A 3: 76,389,704 (GRCm39) probably null Het
Garnl3 T A 2: 32,924,141 (GRCm39) E247V probably damaging Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gorasp1 T A 9: 119,766,600 (GRCm39) probably benign Het
Hcar2 T C 5: 124,002,541 (GRCm39) N321D possibly damaging Het
Hoxb6 G T 11: 96,190,395 (GRCm39) M131I probably damaging Het
Kif13a A G 13: 46,980,221 (GRCm39) V177A probably damaging Het
Limch1 C T 5: 67,191,545 (GRCm39) T794I probably benign Het
Lmbrd2 A G 15: 9,165,906 (GRCm39) Y260C possibly damaging Het
Lmo7 A G 14: 102,122,948 (GRCm39) N379S probably benign Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Lrrc14 A T 15: 76,598,711 (GRCm39) E449V probably damaging Het
Lrrc8c T C 5: 105,755,133 (GRCm39) Y303H probably damaging Het
Mecr T G 4: 131,570,986 (GRCm39) V58G probably null Het
Med12l T A 3: 58,949,824 (GRCm39) D193E possibly damaging Het
Moap1 T C 12: 102,709,438 (GRCm39) E37G probably damaging Het
Mrgprb2 T A 7: 48,202,644 (GRCm39) Y27F probably benign Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Ndufs5 A T 4: 123,609,744 (GRCm39) C43* probably null Het
Oaz2 A T 9: 65,596,183 (GRCm39) D83V Het
Or2t29 A T 11: 58,433,533 (GRCm39) Y269* probably null Het
Or5ac22 T A 16: 59,135,512 (GRCm39) N86I possibly damaging Het
Palm A G 10: 79,652,697 (GRCm39) T191A probably damaging Het
Pclo C A 5: 14,725,850 (GRCm39) D1569E unknown Het
Ppid T A 3: 79,507,604 (GRCm39) D264E probably benign Het
Ppp1r3a A G 6: 14,718,749 (GRCm39) S722P probably damaging Het
Ranbp2 A G 10: 58,321,619 (GRCm39) S2639G possibly damaging Het
Rbak T C 5: 143,161,827 (GRCm39) T68A probably benign Het
Rbm15b C T 9: 106,762,246 (GRCm39) G641R probably benign Het
Rgsl1 A G 1: 153,669,591 (GRCm39) I265T probably benign Het
Rmdn1 T A 4: 19,586,837 (GRCm39) Y98* probably null Het
Sfxn3 T G 19: 45,037,701 (GRCm39) N52K probably benign Het
Slc17a3 G T 13: 24,030,867 (GRCm39) G182* probably null Het
Slc29a3 A T 10: 60,586,437 (GRCm39) Y10N probably benign Het
Slc43a1 T C 2: 84,693,278 (GRCm39) Y577H probably damaging Het
Smarcd3 T A 5: 24,800,435 (GRCm39) I210F possibly damaging Het
Snapc4 A T 2: 26,259,273 (GRCm39) S626T probably benign Het
Sp5 T A 2: 70,307,041 (GRCm39) L242* probably null Het
Spata25 C G 2: 164,669,582 (GRCm39) G143A probably damaging Het
Spata6 T A 4: 111,625,935 (GRCm39) Y101* probably null Het
Tdp2 T G 13: 25,016,059 (GRCm39) S89A probably benign Het
Tlr6 T C 5: 65,110,972 (GRCm39) E645G probably benign Het
Tmem209 T C 6: 30,494,794 (GRCm39) I355V probably benign Het
Trappc8 A T 18: 20,985,704 (GRCm39) Y646N probably damaging Het
Tspoap1 A G 11: 87,657,205 (GRCm39) N399S probably damaging Het
Ube4b A G 4: 149,427,458 (GRCm39) Y897H probably damaging Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Usp9y A T Y: 1,315,759 (GRCm39) probably null Het
Vmn2r1 T C 3: 64,012,877 (GRCm39) *913Q probably null Het
Vmn2r12 T A 5: 109,234,113 (GRCm39) T700S possibly damaging Het
Vmn2r12 C T 5: 109,239,811 (GRCm39) A251T possibly damaging Het
Wdr70 A C 15: 7,953,725 (GRCm39) F389V possibly damaging Het
Wdr91 A T 6: 34,868,395 (GRCm39) M442K possibly damaging Het
Ydjc T C 16: 16,968,762 (GRCm39) C234R probably benign Het
Zfp87 A G 13: 74,520,467 (GRCm39) Y204H 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
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
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
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'- AGAGGTTGGCCACTTTGACC -3'
(R):5'- AAGTTTCGTTGACCTGCTGAGG -3'

Sequencing Primer
(F):5'- ACCCTTACAAGTATTTGGTCGTG -3'
(R):5'- CCTGCTGAGGATAGAGTACATTC -3'
Posted On 2019-09-13