Incidental Mutation 'R4367:Cyp1a1'
ID 325814
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 041673-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R4367 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 57595211-57611107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57607432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 20 (V20A)
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: V20A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034865
Gene: ENSMUSG00000032315
AA Change: V20A

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: V20A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,127 (GRCm39) I233V probably damaging Het
Alox5 T A 6: 116,437,924 (GRCm39) Y21F possibly damaging Het
Ank2 T C 3: 126,739,798 (GRCm39) T1942A probably benign Het
Aoc1l1 T C 6: 48,953,064 (GRCm39) S330P probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc39 T C 3: 33,880,671 (GRCm39) H432R probably benign Het
Cttnbp2 A C 6: 18,405,248 (GRCm39) C574G probably damaging Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dnah6 A G 6: 73,126,467 (GRCm39) S1287P possibly damaging Het
Dnttip2 T C 3: 122,070,146 (GRCm39) S454P probably damaging Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Fmo1 G C 1: 162,661,217 (GRCm39) Y355* probably null Het
Git2 T A 5: 114,902,727 (GRCm39) H138L probably damaging Het
Gpr162 G A 6: 124,838,658 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt1 T C 2: 25,797,638 (GRCm39) I881T probably damaging Het
Lama3 T A 18: 12,646,747 (GRCm39) C1754S probably damaging Het
Mpp3 A T 11: 101,914,246 (GRCm39) D116E probably benign Het
Myh11 T C 16: 14,036,747 (GRCm39) D985G probably damaging Het
Necap1 T C 6: 122,864,337 (GRCm39) V273A probably damaging Het
Nlrc5 T C 8: 95,203,192 (GRCm39) S431P probably damaging Het
Nutm2 A T 13: 50,623,920 (GRCm39) T206S probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Or8g19 G A 9: 39,055,725 (GRCm39) A110T probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Podnl1 G A 8: 84,853,897 (GRCm39) R89H probably benign Het
Prpf38b T C 3: 108,818,487 (GRCm39) Y91C probably damaging Het
Radil C T 5: 142,480,560 (GRCm39) A632T probably benign Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sdf2 C T 11: 78,141,863 (GRCm39) T66I probably damaging Het
Specc1 T C 11: 62,009,356 (GRCm39) S371P probably damaging Het
Suco T C 1: 161,674,799 (GRCm39) E416G probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Tcirg1 C T 19: 3,949,069 (GRCm39) D407N probably damaging Het
Tefm G T 11: 80,031,156 (GRCm39) L27I probably benign Het
Tenm2 A G 11: 35,918,225 (GRCm39) I1845T probably benign Het
Tfam A T 10: 71,069,233 (GRCm39) I119N probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Trpm6 T C 19: 18,804,889 (GRCm39) I947T probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp54 T C 14: 20,611,202 (GRCm39) T1205A probably benign Het
Vmn2r25 T C 6: 123,805,496 (GRCm39) R454G probably damaging Het
Xylb T C 9: 119,217,781 (GRCm39) V477A 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
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
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'- TGATAAGTGTGAAGCTGTAGAGGTC -3'

Sequencing Primer
(F):5'- TCTATGCCCAGGGAACAGCTC -3'
(R):5'- AAGCTGTAGAGGTCTGGCC -3'
Posted On 2015-07-06