Mutagenetix > Incidental Mutation

Incidental Mutation 'R6189:Cyp1a1'

502395

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

044329-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R6189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57595211-57611107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57607966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 198 (V198A)

Ref Sequence

ENSEMBL: ENSMUSP00000150277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034865] [ENSMUST00000216433]

AlphaFold

P00184

Predicted Effect

probably damaging
Transcript: ENSMUST00000034865
AA Change: V198A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034865
Gene: ENSMUSG00000032315
AA Change: V198A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:p450	44	509	2.3e-111	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216433
AA Change: V198A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (74/76)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,474,222 (GRCm39)		probably benign	Het
Abca8a	T	C	11: 109,921,710 (GRCm39)	D1448G	probably damaging	Het
Actn2	C	T	13: 12,291,326 (GRCm39)	D693N	probably damaging	Het
Adam3	A	C	8: 25,201,352 (GRCm39)	I267R	probably benign	Het
Aldh1l2	A	G	10: 83,343,877 (GRCm39)		probably null	Het
C4bp	T	C	1: 130,564,556 (GRCm39)	Y376C	probably damaging	Het
Cacna1h	A	G	17: 25,616,818 (GRCm39)	W101R	probably damaging	Het
Ccdc97	T	A	7: 25,415,523 (GRCm39)	T47S	probably benign	Het
Cenatac	G	A	9: 44,321,618 (GRCm39)	R328C	probably benign	Het
Cnot6l	G	A	5: 96,246,136 (GRCm39)	T171I	probably benign	Het
Cntnap2	T	A	6: 47,248,232 (GRCm39)	S1213T	probably damaging	Het
Cxcl10	A	T	5: 92,495,972 (GRCm39)	L55Q	probably benign	Het
Dclre1b	A	G	3: 103,710,849 (GRCm39)	V354A	probably damaging	Het
Dmxl1	C	T	18: 50,026,402 (GRCm39)	H1837Y	probably benign	Het
Dnajc13	G	C	9: 104,091,085 (GRCm39)	D665E	probably benign	Het
Dnmbp	T	C	19: 43,878,748 (GRCm39)	T108A	probably benign	Het
Dnmbp	T	A	19: 43,889,950 (GRCm39)	T606S	probably benign	Het
Dok5	T	A	2: 170,642,771 (GRCm39)	I23N	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epha5	A	T	5: 84,385,399 (GRCm39)	F311I	probably damaging	Het
Erbb4	T	A	1: 68,083,075 (GRCm39)	M1059L	probably benign	Het
Fbxo40	A	G	16: 36,786,526 (GRCm39)	I681T	probably benign	Het
Flg2	T	A	3: 93,127,381 (GRCm39)	C2098S	unknown	Het
Gpr87	T	A	3: 59,086,650 (GRCm39)	D285V	probably damaging	Het
Hrh1	T	A	6: 114,456,959 (GRCm39)	V80D	probably damaging	Het
Hunk	G	A	16: 90,284,769 (GRCm39)	R351K	probably benign	Het
Ifna12	A	G	4: 88,521,248 (GRCm39)	W100R	probably damaging	Het
Ift57	G	A	16: 49,584,176 (GRCm39)	G310S	probably damaging	Het
Igf1r	T	A	7: 67,857,084 (GRCm39)	Y1015*	probably null	Het
Igkv14-130	T	C	6: 67,768,432 (GRCm39)	I96T	probably damaging	Het
Il34	C	T	8: 111,469,350 (GRCm39)	S155N	probably benign	Het
Itga7	T	C	10: 128,786,272 (GRCm39)	S938P	possibly damaging	Het
Itgam	A	G	7: 127,711,676 (GRCm39)	M764V	probably benign	Het
Lao1	T	A	4: 118,825,077 (GRCm39)	M299K	probably benign	Het
Lnpep	A	T	17: 17,787,001 (GRCm39)	S533T	possibly damaging	Het
Lrp4	T	C	2: 91,305,579 (GRCm39)	V283A	possibly damaging	Het
Magi3	G	T	3: 103,958,181 (GRCm39)	H635N	probably damaging	Het
Mecr	A	T	4: 131,592,565 (GRCm39)		probably null	Het
Mgrn1	T	C	16: 4,728,674 (GRCm39)		probably null	Het
Mical2	A	C	7: 112,012,087 (GRCm39)	N646H	probably damaging	Het
Mymk	C	T	2: 26,957,377 (GRCm39)	V39I	possibly damaging	Het
Nav3	T	C	10: 109,555,880 (GRCm39)	S1684G	probably damaging	Het
Ntn5	A	T	7: 45,342,644 (GRCm39)	D330V	probably benign	Het
Nup42	G	T	5: 24,380,452 (GRCm39)	G149V	probably damaging	Het
Nutm2	T	A	13: 50,623,774 (GRCm39)	V157D	possibly damaging	Het
Obscn	T	C	11: 58,960,760 (GRCm39)	I3460V	probably benign	Het
Or8u10	A	T	2: 85,915,257 (GRCm39)	M288K	possibly damaging	Het
Pakap	A	G	4: 57,855,928 (GRCm39)	E419G	probably benign	Het
Pcdh15	C	T	10: 74,178,483 (GRCm39)	A580V	probably null	Het
Pcdhb10	T	A	18: 37,545,456 (GRCm39)	H177Q	probably damaging	Het
Pitx2	T	C	3: 129,012,118 (GRCm39)	Y130H	probably damaging	Het
Pmch	G	T	10: 87,927,248 (GRCm39)		probably null	Het
Pofut2	T	A	10: 77,104,420 (GRCm39)	I399N	probably damaging	Het
Prr36	C	A	8: 4,264,177 (GRCm39)		probably benign	Het
Ptprq	C	A	10: 107,353,748 (GRCm39)	C2256F	probably damaging	Het
Rassf5	G	A	1: 131,172,716 (GRCm39)	A51V	probably damaging	Het
Retnla	A	G	16: 48,663,258 (GRCm39)	I54V	probably benign	Het
Rimbp2	A	G	5: 128,880,961 (GRCm39)	L142P	probably benign	Het
Ripk1	A	G	13: 34,216,484 (GRCm39)	T564A	probably benign	Het
Robo4	G	A	9: 37,314,829 (GRCm39)	E228K	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Rusc1	A	T	3: 88,996,319 (GRCm39)	L132Q	probably damaging	Het
Serpinb9h	A	T	13: 33,588,427 (GRCm39)	E337D	probably benign	Het
Setd1a	T	C	7: 127,377,455 (GRCm39)		probably null	Het
Slc38a6	A	T	12: 73,356,970 (GRCm39)	K122M	probably damaging	Het
Speer4a2	A	G	5: 26,290,691 (GRCm39)	I160T	probably benign	Het
Susd5	A	T	9: 113,924,726 (GRCm39)	D203V	probably damaging	Het
Trip4	G	A	9: 65,786,434 (GRCm39)	R110*	probably null	Het
Tuba4a	T	A	1: 75,193,518 (GRCm39)	I95F	probably benign	Het
Ube2q2	T	A	9: 55,070,267 (GRCm39)	S70T	probably benign	Het
Umodl1	A	G	17: 31,215,256 (GRCm39)	I1027V	possibly damaging	Het
Unc80	G	A	1: 66,716,630 (GRCm39)	V2917I	probably benign	Het
Vmn1r70	T	A	7: 10,367,598 (GRCm39)	C29S	probably benign	Het
Vmn2r94	A	T	17: 18,477,996 (GRCm39)	D138E	probably benign	Het
Wee2	C	T	6: 40,426,617 (GRCm39)	H129Y	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,723,440 (GRCm39)		probably benign	Het
Zfp872	A	T	9: 22,108,427 (GRCm39)	D42V	probably benign	Het
Zic5	T	G	14: 122,702,386 (GRCm39)	D115A	unknown	Het

Other mutations in Cyp1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GCATGACTTTTAACCCAGACTCTG -3'
(R):5'- AAGTCCTTGAAGGCATCCAGG -3'

Sequencing Primer
(F):5'- AGACTCTGGACCCGTGTG -3'
(R):5'- CATCCAGGGAAGAGTTAGGC -3'

Posted On

2018-02-27