Mutagenetix > Incidental Mutation

Incidental Mutation 'R6913:Cyp1a1'

539182

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

045034-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R6913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57595211-57611107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57607576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 68 (T68K)

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: T68K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034865
Gene: ENSMUSG00000032315
AA Change: T68K

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: T68K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,197,494 (GRCm39)	I619N	possibly damaging	Het
Accsl	T	C	2: 93,696,488 (GRCm39)	K41E	possibly damaging	Het
Actr6	T	C	10: 89,562,558 (GRCm39)	E107G	probably damaging	Het
Adam7	T	A	14: 68,771,100 (GRCm39)	M9L	probably benign	Het
Adamts12	T	A	15: 11,215,778 (GRCm39)	H266Q	probably damaging	Het
Adamts16	A	G	13: 70,877,017 (GRCm39)	F1208S	possibly damaging	Het
Ankrd11	T	C	8: 123,621,650 (GRCm39)	D734G	probably benign	Het
Ap1b1	T	C	11: 4,962,972 (GRCm39)	V43A	possibly damaging	Het
Asnsd1	A	G	1: 53,387,390 (GRCm39)	V79A	probably damaging	Het
Aste1	T	A	9: 105,274,607 (GRCm39)	S221R	probably benign	Het
Ccndbp1	G	A	2: 120,840,347 (GRCm39)	E94K	probably benign	Het
Cdc34	G	A	10: 79,520,937 (GRCm39)		probably null	Het
Cdh16	T	C	8: 105,348,896 (GRCm39)	D67G	probably benign	Het
Chd8	T	C	14: 52,451,951 (GRCm39)	E1348G	probably damaging	Het
Chl1	C	T	6: 103,642,909 (GRCm39)	Q216*	probably null	Het
Cse1l	G	A	2: 166,771,797 (GRCm39)	V353I	possibly damaging	Het
Ctbp2	G	A	7: 132,616,455 (GRCm39)	S160F	possibly damaging	Het
Dennd11	T	C	6: 40,383,851 (GRCm39)	N397S	possibly damaging	Het
Dlgap2	T	A	8: 14,828,374 (GRCm39)	M594K	probably benign	Het
Dnah6	C	T	6: 73,189,505 (GRCm39)	E48K	probably benign	Het
Dock2	A	G	11: 34,647,049 (GRCm39)	V35A	probably damaging	Het
Edem2	A	T	2: 155,568,594 (GRCm39)	S73R	probably damaging	Het
Eps15	T	C	4: 109,218,427 (GRCm39)	V430A	probably benign	Het
Frem2	T	C	3: 53,424,242 (GRCm39)	N3065S	probably damaging	Het
Gal3st4	A	T	5: 138,269,090 (GRCm39)	S123R	possibly damaging	Het
Garnl3	T	A	2: 32,876,841 (GRCm39)	I937F	possibly damaging	Het
Gfod2	C	T	8: 106,443,995 (GRCm39)	V183M	possibly damaging	Het
Glipr1l1	T	C	10: 111,898,339 (GRCm39)		probably null	Het
Gm7145	T	G	1: 117,913,711 (GRCm39)	C198G	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
H2-Eb2	G	A	17: 34,552,523 (GRCm39)	A123T	possibly damaging	Het
Ighv1-55	T	C	12: 115,172,129 (GRCm39)	I7V	probably benign	Het
Itpripl2	G	T	7: 118,090,332 (GRCm39)	P76T	possibly damaging	Het
Kat6a	C	A	8: 23,393,215 (GRCm39)	A231E	possibly damaging	Het
Lipo3	C	T	19: 33,757,705 (GRCm39)	V255I	probably benign	Het
Mamstr	A	T	7: 45,292,662 (GRCm39)	M141L	probably benign	Het
Med13	A	G	11: 86,210,702 (GRCm39)	V480A	probably benign	Het
Mei1	A	G	15: 81,973,810 (GRCm39)	N523S	probably benign	Het
Mill2	A	G	7: 18,590,351 (GRCm39)	T144A	probably null	Het
Muc16	C	A	9: 18,553,959 (GRCm39)	L4111F	unknown	Het
Mylk2	G	A	2: 152,755,610 (GRCm39)	G258E	possibly damaging	Het
Myom2	T	G	8: 15,115,710 (GRCm39)	S42A	probably benign	Het
Nab1	C	A	1: 52,503,995 (GRCm39)	G401C	possibly damaging	Het
Nifk	T	C	1: 118,260,592 (GRCm39)	V244A	possibly damaging	Het
Nipsnap2	C	A	5: 129,830,357 (GRCm39)	Q224K	probably benign	Het
Nop16	T	G	13: 54,737,553 (GRCm39)	K47Q	probably damaging	Het
Nup153	A	T	13: 46,853,192 (GRCm39)	S548R	probably damaging	Het
Or2at1	A	C	7: 99,416,924 (GRCm39)	D185A	probably damaging	Het
Or4g17	A	G	2: 111,209,347 (GRCm39)	M1V	probably null	Het
Or5b111	A	G	19: 13,290,998 (GRCm39)	I217T	probably benign	Het
Pard6g	G	A	18: 80,160,534 (GRCm39)	V216I	possibly damaging	Het
Pcdh20	C	T	14: 88,706,038 (GRCm39)	V421I	probably benign	Het
Pcif1	G	A	2: 164,726,224 (GRCm39)		probably null	Het
Pde11a	C	A	2: 76,168,084 (GRCm39)	V290F	probably damaging	Het
Pisd	T	C	5: 32,894,773 (GRCm39)	Y511C	probably damaging	Het
Polg	A	T	7: 79,110,405 (GRCm39)	D276E	probably damaging	Het
Polr3b	T	C	10: 84,549,496 (GRCm39)	V906A	probably damaging	Het
Prkcg	C	T	7: 3,362,335 (GRCm39)	P270S	probably benign	Het
Rapgef2	T	A	3: 78,993,281 (GRCm39)	I884F	probably damaging	Het
Rpl13	C	A	8: 123,830,014 (GRCm39)	N113K	possibly damaging	Het
Rxra	T	A	2: 27,631,186 (GRCm39)	I139N	probably damaging	Het
Sf3b5	T	A	10: 12,884,487 (GRCm39)	C41S	probably benign	Het
Spata31e3	G	T	13: 50,399,293 (GRCm39)	P1011H	probably damaging	Het
Stk24	C	T	14: 121,540,221 (GRCm39)	R126Q	probably damaging	Het
Taar8b	T	C	10: 23,967,963 (GRCm39)	D77G	possibly damaging	Het
Tbc1d1	T	A	5: 64,468,452 (GRCm39)	C566S	probably benign	Het
Tenm3	A	T	8: 48,751,972 (GRCm39)	M948K	probably damaging	Het
Thbs4	T	A	13: 92,894,444 (GRCm39)	Q693L	possibly damaging	Het
Tnfrsf26	A	T	7: 143,172,126 (GRCm39)	C61*	probably null	Het
Trp63	A	G	16: 25,707,918 (GRCm39)	E636G	probably damaging	Het
Try5	T	C	6: 41,288,266 (GRCm39)	Y121C	probably damaging	Het
Ttn	G	T	2: 76,660,755 (GRCm39)		probably benign	Het
Vamp1	T	A	6: 125,195,908 (GRCm39)	V55D	probably damaging	Het
Vmn2r117	T	C	17: 23,698,537 (GRCm39)	N12S	probably damaging	Het
Vmn2r90	G	A	17: 17,924,323 (GRCm39)	G41S	probably damaging	Het
Zfp462	T	A	4: 55,007,775 (GRCm39)	D71E	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
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
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
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'- TCTCAGCAGCCACCTAGATC -3'
(R):5'- AAAGTCATGCTCTTGCCATTAGTG -3'

Sequencing Primer
(F):5'- GGACTTCCAGCCTTCGTG -3'
(R):5'- GTCATGCTCTTGCCATTAGTGATAAG -3'

Posted On

2018-11-06