Incidental Mutation 'R5324:Cyp1a1'
ID 405022
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 042907-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R5324 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 57595211-57611107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57609652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 401 (N401S)
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: N401S

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034865
Gene: ENSMUSG00000032315
AA Change: N401S

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: N401S

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.2%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Ap5b1 G A 19: 5,619,863 (GRCm39) E428K possibly damaging Het
Bmp2 C T 2: 133,403,279 (GRCm39) R277* probably null Het
Cbl A T 9: 44,065,551 (GRCm39) S659T probably damaging Het
Col14a1 A T 15: 55,201,841 (GRCm39) H43L unknown Het
Corin A G 5: 72,592,600 (GRCm39) C133R probably damaging Het
Dip2a T C 10: 76,132,227 (GRCm39) D508G probably damaging Het
Dnah2 T A 11: 69,348,819 (GRCm39) H2556L probably benign Het
Dock8 T C 19: 25,140,458 (GRCm39) F1333L probably benign Het
Epg5 A G 18: 78,005,660 (GRCm39) K717E possibly damaging Het
Fmn2 G A 1: 174,436,446 (GRCm39) probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hbp1 T C 12: 31,978,617 (GRCm39) N510S probably damaging Het
Lrguk T C 6: 34,050,732 (GRCm39) S397P possibly damaging Het
Mmrn1 A T 6: 60,953,570 (GRCm39) D617V probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
N6amt1 A G 16: 87,151,241 (GRCm39) D34G probably damaging Het
Nktr A T 9: 121,556,412 (GRCm39) D30V probably damaging Het
Or52ab7 T A 7: 102,978,257 (GRCm39) M188K probably damaging Het
Or5w8 A T 2: 87,688,040 (GRCm39) I174F probably damaging Het
Or6c212 T A 10: 129,558,814 (GRCm39) I200L probably benign Het
Pabpc1 A G 15: 36,600,869 (GRCm39) F314L probably damaging Het
Papln G A 12: 83,821,345 (GRCm39) V226M probably damaging Het
Parp12 A T 6: 39,079,546 (GRCm39) D321E probably damaging Het
Plch2 T A 4: 155,068,991 (GRCm39) T1107S probably benign Het
Psma2 T C 13: 14,799,802 (GRCm39) L182P probably damaging Het
Rcl1 A G 19: 29,105,401 (GRCm39) Y196C probably benign Het
Rdh16 G A 10: 127,637,136 (GRCm39) V24M probably damaging Het
Rpe65 A G 3: 159,310,041 (GRCm39) T105A possibly damaging Het
Serpini1 T C 3: 75,547,601 (GRCm39) I371T probably damaging Het
Tet2 T C 3: 133,191,674 (GRCm39) N920S probably benign Het
Tmem71 C T 15: 66,427,063 (GRCm39) S44N probably benign Het
Tmprss11f T A 5: 86,704,837 (GRCm39) D27V possibly damaging Het
Zfp747l1 G T 7: 126,984,079 (GRCm39) probably benign Het
Zxdc T A 6: 90,350,782 (GRCm39) I411N probably 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
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'- GGTCAGACCATAGATCCGTTGAC -3'
(R):5'- AACCTTTCAGGCCGGAACTC -3'

Sequencing Primer
(F):5'- CAGACCATAGATCCGTTGACATTTG -3'
(R):5'- CACAGTTCCCTATATGCAGAGG -3'
Posted On 2016-07-22