Mutagenetix > Incidental Mutations

Incidental Mutation 'R1447:Cyp2j7'

160690

Institutional Source

Beutler Lab

Gene Symbol

Cyp2j7

Ensembl Gene

ENSMUSG00000081362

Gene Name

cytochrome P450, family 2, subfamily j, polypeptide 7

Synonyms

Cyp2j7-ps, OTTMUSG00000007941

MMRRC Submission

039502-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1447 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96195197-96236659 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96195293 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 473 (F473L)

Ref Sequence

ENSEMBL: ENSMUSP00000134331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162514]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162514
AA Change: F473L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134331
Gene: ENSMUSG00000081362
AA Change: F473L

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:p450	44	499	3.7e-130	PFAM

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.8%
20x: 84.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,965,586	L2048P	probably damaging	Het
Adamts12	A	T	15: 11,263,361	D603V	probably benign	Het
Ahnak	A	T	19: 9,007,082	E1910V	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Amotl1	A	G	9: 14,555,742	V704A	probably benign	Het
Ankrd50	A	T	3: 38,455,542	V892E	probably damaging	Het
Aoc1	G	A	6: 48,906,242	V351I	probably benign	Het
Atp6v1b1	T	C	6: 83,757,942	V412A	possibly damaging	Het
Atp8b2	A	T	3: 89,944,170	I906N	probably damaging	Het
BC005561	T	C	5: 104,522,204	S1531P	possibly damaging	Het
Bnc2	A	G	4: 84,293,220	V304A	probably benign	Het
Btaf1	A	G	19: 36,992,454	D1176G	probably benign	Het
C1qtnf3	G	A	15: 10,952,649	G66R	probably damaging	Het
Ccdc162	T	C	10: 41,580,247	E360G	probably damaging	Het
Csmd1	C	A	8: 15,925,306	G2968*	probably null	Het
Ddx24	T	C	12: 103,424,307	K142E	possibly damaging	Het
Dnah1	A	T	14: 31,306,898	M625K	probably benign	Het
Dnah9	A	T	11: 66,108,482	Y944N	possibly damaging	Het
Eef1akmt1	T	A	14: 57,565,984	K38*	probably null	Het
Enpp2	C	T	15: 54,919,598		probably null	Het
Eps8l1	A	G	7: 4,474,056	E508G	probably damaging	Het
Etaa1	A	T	11: 17,946,625	D497E	possibly damaging	Het
Fam181b	C	T	7: 93,080,160	A47V	probably damaging	Het
Fubp3	T	C	2: 31,600,547	V221A	probably damaging	Het
Golga2	T	C	2: 32,297,776	V191A	possibly damaging	Het
Haus5	G	T	7: 30,661,791		probably null	Het
Hydin	T	C	8: 110,523,166	L2247P	probably damaging	Het
Lama5	A	C	2: 180,185,878	I2197S	probably damaging	Het
Mapre3	C	T	5: 30,861,807		probably benign	Het
Mast2	C	A	4: 116,312,013	M733I	probably benign	Het
Mphosph10	A	T	7: 64,380,950	F514I	probably damaging	Het
Mterf3	A	G	13: 66,917,039	L266P	probably damaging	Het
Nup205	A	G	6: 35,215,185	D1114G	probably benign	Het
Olfr356	T	G	2: 36,937,776	V219G	possibly damaging	Het
Olfr380	A	G	11: 73,453,874	F113L	probably benign	Het
Phf24	G	T	4: 42,938,232	E119*	probably null	Het
Pik3r5	G	A	11: 68,494,177	R636Q	probably benign	Het
Pla2g16	G	A	19: 7,579,233	R133H	probably benign	Het
Rida	T	A	15: 34,488,611	Q45L	possibly damaging	Het
Ros1	T	C	10: 52,098,858	T1544A	possibly damaging	Het
Rpl7	T	A	1: 16,102,597	Y166F	probably benign	Het
Rps6ka5	A	G	12: 100,577,825	I338T	probably benign	Het
Scn3a	A	T	2: 65,469,980	N1347K	probably damaging	Het
Serpinb6d	A	G	13: 33,670,756	D238G	probably benign	Het
Sh3rf2	T	A	18: 42,101,671	I173N	probably benign	Het
Smarcc2	T	C	10: 128,469,791		probably null	Het
Thsd4	T	C	9: 59,997,213	N567D	probably benign	Het
Tmprss13	C	A	9: 45,328,580	P62Q	unknown	Het
Tmprss7	T	C	16: 45,680,670	Q256R	probably benign	Het
Tssc4	A	G	7: 143,070,155	T67A	probably benign	Het
Tssk5	G	A	15: 76,372,104	Q372*	probably null	Het
Usp47	G	T	7: 112,074,568		probably null	Het
Utp15	A	G	13: 98,252,878	I304T	possibly damaging	Het
Vmn1r35	A	C	6: 66,678,906	V93G	probably benign	Het
Zfhx3	A	C	8: 108,948,444	Q2042P	probably benign	Het
Zfp532	C	A	18: 65,624,990	R665S	probably damaging	Het
Zfp976	G	T	7: 42,612,599	P605T	possibly damaging	Het
Zfpl1	A	G	19: 6,082,619	V125A	possibly damaging	Het

Other mutations in Cyp2j7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Cyp2j7	APN	4	96227512	splice site	probably benign
IGL00426:Cyp2j7	APN	4	96227513	splice site	probably null
IGL01505:Cyp2j7	APN	4	96227680	critical splice acceptor site	probably null
IGL02100:Cyp2j7	APN	4	96236556	missense	probably damaging	0.99
IGL02183:Cyp2j7	APN	4	96230147	splice site	probably benign
IGL02596:Cyp2j7	APN	4	96215422	missense	possibly damaging	0.56
IGL02661:Cyp2j7	APN	4	96236650	missense	probably benign
IGL02723:Cyp2j7	APN	4	96230129	missense	probably benign	0.33
IGL03053:Cyp2j7	APN	4	96230037	missense	probably benign	0.00
IGL03159:Cyp2j7	APN	4	96227512	splice site	probably benign
IGL03168:Cyp2j7	APN	4	96230037	missense	probably benign	0.00
IGL03174:Cyp2j7	APN	4	96195370	nonsense	probably null
PIT4449001:Cyp2j7	UTSW	4	96215338	missense	probably damaging	0.96
R0016:Cyp2j7	UTSW	4	96202147	missense	probably damaging	0.99
R0016:Cyp2j7	UTSW	4	96202147	missense	probably damaging	0.99
R0392:Cyp2j7	UTSW	4	96199434	missense	probably damaging	1.00
R1778:Cyp2j7	UTSW	4	96199390	missense	probably damaging	1.00
R1876:Cyp2j7	UTSW	4	96217419	missense	probably benign	0.01
R4105:Cyp2j7	UTSW	4	96199450	missense	possibly damaging	0.84
R4106:Cyp2j7	UTSW	4	96199450	missense	possibly damaging	0.84
R4107:Cyp2j7	UTSW	4	96199450	missense	possibly damaging	0.84
R4108:Cyp2j7	UTSW	4	96199450	missense	possibly damaging	0.84
R4438:Cyp2j7	UTSW	4	96217409	missense	probably benign	0.01
R4660:Cyp2j7	UTSW	4	96195342	missense	probably benign	0.29
R6193:Cyp2j7	UTSW	4	96195203	missense	probably damaging	1.00
R6380:Cyp2j7	UTSW	4	96229974	critical splice donor site	probably null
R6427:Cyp2j7	UTSW	4	96227667	missense	probably damaging	0.96
R6624:Cyp2j7	UTSW	4	96227618	missense	probably damaging	0.99
R7196:Cyp2j7	UTSW	4	96215414	missense	probably benign	0.03
R7417:Cyp2j7	UTSW	4	96201988	critical splice donor site	probably null
R7780:Cyp2j7	UTSW	4	96230019	missense	probably benign	0.00
R8062:Cyp2j7	UTSW	4	96215350	missense	probably null	1.00
R8097:Cyp2j7	UTSW	4	96215410	missense	possibly damaging	0.95
R8201:Cyp2j7	UTSW	4	96195327	missense	probably damaging	1.00
R8279:Cyp2j7	UTSW	4	96228559	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGCTAACATTTCAATGGGCCAGAC -3'
(R):5'- TGGGCACAAAGTCAAGGGTTACTTC -3'

Sequencing Primer
(F):5'- GAGGAACCACAGTTCTCCTTG -3'
(R):5'- GTCAAGGGTTACTTCAGAATTTGC -3'

Posted On

2014-03-14