Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03085:Cyp1a1'

418065

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

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

Stock #

IGL03085

Quality Score

Status

Chromosome

Chromosomal Location

57595211-57611107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 57608995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 292 (H292P)

Ref Sequence

ENSEMBL: ENSMUSP00000150277 (fasta)

Gene Model

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

AlphaFold

P00184

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034865
AA Change: H292P

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034865
Gene: ENSMUSG00000032315
AA Change: H292P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216433
AA Change: H292P

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	T	14: 64,208,881 (GRCm39)	H230Q	probably benign	Het
Aagab	T	A	9: 63,546,316 (GRCm39)		probably benign	Het
Actl11	G	T	9: 107,806,749 (GRCm39)	K357N	probably damaging	Het
Aktip	A	G	8: 91,852,651 (GRCm39)		probably null	Het
Amtn	A	G	5: 88,529,501 (GRCm39)		probably benign	Het
Arhgap21	T	A	2: 20,919,532 (GRCm39)	M58L	probably benign	Het
Art2b	T	A	7: 101,229,785 (GRCm39)	Y38F	probably damaging	Het
Asb10	T	C	5: 24,744,601 (GRCm39)		probably benign	Het
Atm	A	T	9: 53,395,471 (GRCm39)	D1699E	possibly damaging	Het
Azi2	A	C	9: 117,888,214 (GRCm39)	K259T	probably damaging	Het
Bcas3	A	G	11: 85,367,609 (GRCm39)	D77G	probably damaging	Het
Birc6	G	A	17: 74,903,945 (GRCm39)	R1246H	probably damaging	Het
Cdh13	C	A	8: 120,015,463 (GRCm39)	D559E	probably damaging	Het
Chrm3	C	T	13: 9,927,570 (GRCm39)	A489T	probably damaging	Het
Ckap2l	A	T	2: 129,126,967 (GRCm39)	Y404N	probably benign	Het
Col18a1	A	G	10: 76,895,015 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,272,198 (GRCm39)	K731*	probably null	Het
Corin	A	T	5: 72,511,273 (GRCm39)	C360S	probably damaging	Het
Dennd5b	A	G	6: 148,928,893 (GRCm39)	V760A	probably damaging	Het
Dhx57	T	C	17: 80,565,526 (GRCm39)	D842G	possibly damaging	Het
Emp2	C	A	16: 10,105,910 (GRCm39)		probably benign	Het
Eral1	G	A	11: 77,969,093 (GRCm39)	R136C	probably damaging	Het
Fat2	T	A	11: 55,174,072 (GRCm39)	M2214L	probably benign	Het
Flnb	G	A	14: 7,882,211 (GRCm38)	R304H	probably benign	Het
G6pd2	A	T	5: 61,967,645 (GRCm39)	E473D	probably benign	Het
Gpx8	A	G	13: 113,179,795 (GRCm39)	Y169H	probably damaging	Het
Ighv1-64	A	G	12: 115,471,461 (GRCm39)	S19P	possibly damaging	Het
Ikbkb	G	T	8: 23,172,802 (GRCm39)	N139K	probably benign	Het
Inpp5b	A	T	4: 124,686,115 (GRCm39)	T720S	probably benign	Het
Kmt2d	C	A	15: 98,737,821 (GRCm39)		probably benign	Het
Lrig2	G	A	3: 104,374,575 (GRCm39)	P169S	probably damaging	Het
Magi3	T	A	3: 103,922,655 (GRCm39)	K1354I	possibly damaging	Het
Mapk9	A	T	11: 49,757,865 (GRCm39)	D103V	probably damaging	Het
Mrpl46	A	T	7: 78,431,333 (GRCm39)	I75N	probably damaging	Het
Or3a1c	T	A	11: 74,046,511 (GRCm39)	I177N	probably damaging	Het
Or8b41	A	G	9: 38,054,479 (GRCm39)	E16G	probably damaging	Het
Or8d2b	G	A	9: 38,788,959 (GRCm39)	M162I	probably benign	Het
Otog	G	T	7: 45,955,346 (GRCm39)		probably null	Het
Pex11a	A	G	7: 79,387,523 (GRCm39)	L103P	probably damaging	Het
Pnpla8	A	G	12: 44,358,305 (GRCm39)	T687A	probably benign	Het
Ppm1d	A	G	11: 85,227,989 (GRCm39)	I302V	probably null	Het
Prdm11	C	A	2: 92,805,304 (GRCm39)	V549F	possibly damaging	Het
Prss54	G	A	8: 96,292,258 (GRCm39)	P107L	probably benign	Het
Rasa3	T	A	8: 13,635,690 (GRCm39)	N422I	probably benign	Het
Rbm27	T	C	18: 42,460,589 (GRCm39)		probably benign	Het
Rpl13-ps3	A	T	14: 59,131,156 (GRCm39)		noncoding transcript	Het
Rps6ka2	G	A	17: 7,562,679 (GRCm39)		probably null	Het
Sphkap	T	A	1: 83,258,075 (GRCm39)	I223F	possibly damaging	Het
Srm	T	C	4: 148,677,838 (GRCm39)	F159L	probably damaging	Het
Stt3a	A	G	9: 36,644,266 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,638,027 (GRCm39)	S395P	possibly damaging	Het
Tecpr2	A	G	12: 110,921,260 (GRCm39)		probably benign	Het
Tmub1	C	T	5: 24,651,096 (GRCm39)	G188S	probably damaging	Het
Trim66	T	A	7: 109,057,952 (GRCm39)	I877F	probably benign	Het
Ubr5	T	C	15: 38,029,812 (GRCm39)	E471G	probably damaging	Het
Vmn1r218	A	T	13: 23,321,481 (GRCm39)	Y196F	possibly damaging	Het
Vmn2r89	T	A	14: 51,689,615 (GRCm39)	D39E	probably damaging	Het
Wee1	C	A	7: 109,723,805 (GRCm39)	P240Q	probably damaging	Het
Zc3h12a	A	T	4: 125,020,813 (GRCm39)	V10D	probably benign	Het
Zzef1	T	C	11: 72,746,350 (GRCm39)		probably benign	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
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
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

Posted On

2016-08-02