Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01583:Cyp1a2'

91441

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp1a2

Ensembl Gene

ENSMUSG00000032310

Gene Name

cytochrome P450, family 1, subfamily a, polypeptide 2

Synonyms

aromatic compound inducible, CP12, P450-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

IGL01583

Quality Score

Status

Chromosome

Chromosomal Location

57584220-57590938 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57589655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 53 (M53K)

Ref Sequence

ENSEMBL: ENSMUSP00000034860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034860]

AlphaFold

P00186

Predicted Effect

probably benign
Transcript: ENSMUST00000034860
AA Change: M53K

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034860
Gene: ENSMUSG00000032310
AA Change: M53K

Domain	Start	End	E-Value	Type
Pfam:p450	41	504	1.7e-105	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215792

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 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. The protein encoded by this gene 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. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]
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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,126,753 (GRCm39)	M329K	possibly damaging	Het
Abce1	G	A	8: 80,420,076 (GRCm39)	T300M	probably damaging	Het
Acap1	G	A	11: 69,772,503 (GRCm39)	S536L	probably damaging	Het
Adcy5	C	A	16: 35,103,883 (GRCm39)		probably benign	Het
Ap2b1	G	T	11: 83,215,437 (GRCm39)	R127L	possibly damaging	Het
Asxl3	T	G	18: 22,649,654 (GRCm39)	S548A	probably benign	Het
Atm	G	A	9: 53,395,547 (GRCm39)		probably benign	Het
Cep250	T	C	2: 155,818,069 (GRCm39)	V807A	probably damaging	Het
Ces1g	T	A	8: 94,033,587 (GRCm39)	Y445F	probably damaging	Het
Cnksr3	A	G	10: 7,070,512 (GRCm39)	Y241H	probably benign	Het
Col9a1	T	C	1: 24,224,225 (GRCm39)	S136P	unknown	Het
Cux2	C	A	5: 122,012,170 (GRCm39)	G422W	probably damaging	Het
Ddx20	T	C	3: 105,593,986 (GRCm39)	D123G	probably damaging	Het
Dock4	T	A	12: 40,860,466 (GRCm39)	L1284*	probably null	Het
Dpp9	A	C	17: 56,518,666 (GRCm39)	L46R	probably benign	Het
Elavl1	A	T	8: 4,351,699 (GRCm39)	V139E	probably damaging	Het
Fndc3b	T	C	3: 27,483,144 (GRCm39)	Y1018C	probably damaging	Het
Fubp1	A	G	3: 151,921,261 (GRCm39)	N78D	possibly damaging	Het
Fubp3	C	T	2: 31,501,755 (GRCm39)		probably benign	Het
Gbx2	C	A	1: 89,856,559 (GRCm39)	R277L	probably damaging	Het
Gm128	T	C	3: 95,148,094 (GRCm39)	R67G	possibly damaging	Het
Gpc2	T	A	5: 138,273,792 (GRCm39)	R469W	probably damaging	Het
Ifi30	G	A	8: 71,217,407 (GRCm39)		probably benign	Het
Kbtbd4	T	C	2: 90,736,252 (GRCm39)	S88P	probably damaging	Het
Kif23	A	T	9: 61,842,750 (GRCm39)	Y216N	probably damaging	Het
Lgals4	A	G	7: 28,540,973 (GRCm39)	D299G	probably damaging	Het
Lmx1b	A	G	2: 33,459,071 (GRCm39)	S161P	probably benign	Het
Lrcol1	T	A	5: 110,502,444 (GRCm39)	S107T	probably benign	Het
Lrrc28	A	T	7: 67,195,223 (GRCm39)		probably null	Het
Ncoa4	T	C	14: 31,894,884 (GRCm39)	V42A	probably benign	Het
Nkd2	C	T	13: 73,969,599 (GRCm39)	S277N	probably benign	Het
Nlrp2	A	T	7: 5,340,769 (GRCm39)	L15Q	probably damaging	Het
Nynrin	T	G	14: 56,107,968 (GRCm39)	L1025R	probably damaging	Het
Or12d12	C	T	17: 37,610,629 (GRCm39)	R228H	probably benign	Het
Or5w1	G	T	2: 87,486,757 (GRCm39)	C169*	probably null	Het
Piwil4	A	T	9: 14,645,783 (GRCm39)	F152I	probably damaging	Het
Plod3	T	C	5: 137,025,002 (GRCm39)	S705P	probably benign	Het
Ppp2r2c	T	A	5: 37,026,166 (GRCm39)	M1K	probably null	Het
Rgs19	T	C	2: 181,331,246 (GRCm39)	E129G	probably damaging	Het
Rpap2	T	A	5: 107,768,061 (GRCm39)	S223T	probably damaging	Het
Shox2	T	C	3: 66,881,104 (GRCm39)		probably benign	Het
Slc30a4	T	C	2: 122,527,137 (GRCm39)	I370V	probably benign	Het
Slco1b2	A	G	6: 141,609,398 (GRCm39)	I269M	possibly damaging	Het
Slco1c1	A	G	6: 141,485,793 (GRCm39)	Y142C	probably damaging	Het
Slco3a1	T	C	7: 73,934,198 (GRCm39)	N658S	probably benign	Het
Sos1	A	T	17: 80,741,329 (GRCm39)	S485R	probably benign	Het
Srpk1	A	G	17: 28,825,291 (GRCm39)	L127P	probably damaging	Het
St3gal6	T	A	16: 58,314,033 (GRCm39)		probably benign	Het
Stk4	T	A	2: 163,916,134 (GRCm39)	M1K	probably null	Het
Tbc1d12	A	G	19: 38,871,176 (GRCm39)	E313G	probably benign	Het
Tbk1	A	G	10: 121,393,134 (GRCm39)	I472T	probably benign	Het
Tiam1	G	A	16: 89,586,168 (GRCm39)	R849W	probably damaging	Het
Tle3	A	G	9: 61,317,307 (GRCm39)	T381A	probably benign	Het
Tmem82	T	G	4: 141,341,954 (GRCm39)	T337P	probably benign	Het
Tmprss15	T	C	16: 78,868,149 (GRCm39)	T220A	probably benign	Het
Ung	A	G	5: 114,275,369 (GRCm39)	K242E	possibly damaging	Het
Vmn1r211	A	T	13: 23,036,571 (GRCm39)	M32K	probably benign	Het
Vps13d	T	G	4: 144,771,658 (GRCm39)	D956A	probably damaging	Het
Wdr64	T	A	1: 175,594,722 (GRCm39)		probably null	Het

Other mutations in Cyp1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Cyp1a2	APN	9	57,589,352 (GRCm39)	nonsense	probably null
IGL01161:Cyp1a2	APN	9	57,587,176 (GRCm39)	missense	probably damaging	1.00
IGL01726:Cyp1a2	APN	9	57,589,485 (GRCm39)	missense	possibly damaging	0.78
IGL01973:Cyp1a2	APN	9	57,589,678 (GRCm39)	missense	probably damaging	1.00
IGL02995:Cyp1a2	APN	9	57,584,511 (GRCm39)	makesense	probably null
IGL03349:Cyp1a2	APN	9	57,587,158 (GRCm39)	missense	possibly damaging	0.82
broadway	UTSW	9	57,584,516 (GRCm39)	nonsense	probably null
PIT4515001:Cyp1a2	UTSW	9	57,589,242 (GRCm39)	missense	probably benign	0.14
R0025:Cyp1a2	UTSW	9	57,589,344 (GRCm39)	missense	probably damaging	1.00
R0389:Cyp1a2	UTSW	9	57,589,308 (GRCm39)	missense	probably benign	0.00
R0582:Cyp1a2	UTSW	9	57,587,529 (GRCm39)	splice site	probably benign
R0589:Cyp1a2	UTSW	9	57,586,345 (GRCm39)	missense	possibly damaging	0.95
R1239:Cyp1a2	UTSW	9	57,589,050 (GRCm39)	missense	probably benign	0.02
R1988:Cyp1a2	UTSW	9	57,589,569 (GRCm39)	missense	possibly damaging	0.90
R2156:Cyp1a2	UTSW	9	57,589,433 (GRCm39)	missense	probably damaging	1.00
R2173:Cyp1a2	UTSW	9	57,584,798 (GRCm39)	missense	probably damaging	1.00
R2423:Cyp1a2	UTSW	9	57,587,232 (GRCm39)	missense	probably damaging	0.99
R3944:Cyp1a2	UTSW	9	57,589,151 (GRCm39)	missense	probably benign
R5225:Cyp1a2	UTSW	9	57,584,516 (GRCm39)	nonsense	probably null
R5419:Cyp1a2	UTSW	9	57,589,794 (GRCm39)	missense	probably benign	0.17
R5471:Cyp1a2	UTSW	9	57,586,303 (GRCm39)	missense	probably damaging	0.96
R5816:Cyp1a2	UTSW	9	57,588,336 (GRCm39)	missense	probably benign
R6017:Cyp1a2	UTSW	9	57,588,313 (GRCm39)	missense	probably damaging	0.98
R6825:Cyp1a2	UTSW	9	57,584,543 (GRCm39)	missense	probably benign	0.01
R6931:Cyp1a2	UTSW	9	57,589,439 (GRCm39)	missense	probably benign	0.02
R7058:Cyp1a2	UTSW	9	57,584,525 (GRCm39)	missense	probably damaging	0.99
R7079:Cyp1a2	UTSW	9	57,589,161 (GRCm39)	missense	probably benign
R7081:Cyp1a2	UTSW	9	57,586,272 (GRCm39)	missense	possibly damaging	0.52
R7400:Cyp1a2	UTSW	9	57,589,223 (GRCm39)	missense	probably benign	0.37
R7672:Cyp1a2	UTSW	9	57,589,620 (GRCm39)	missense	probably benign	0.05
R8097:Cyp1a2	UTSW	9	57,586,836 (GRCm39)	splice site	probably null
R8879:Cyp1a2	UTSW	9	57,589,168 (GRCm39)	missense	possibly damaging	0.55
R8926:Cyp1a2	UTSW	9	57,588,361 (GRCm39)	missense	probably benign	0.00
R9083:Cyp1a2	UTSW	9	57,587,572 (GRCm39)	missense	probably benign	0.01
R9206:Cyp1a2	UTSW	9	57,589,583 (GRCm39)	missense	probably damaging	1.00
R9208:Cyp1a2	UTSW	9	57,589,583 (GRCm39)	missense	probably damaging	1.00
R9784:Cyp1a2	UTSW	9	57,587,562 (GRCm39)	missense	probably benign	0.07
RF007:Cyp1a2	UTSW	9	57,589,253 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09