Mutagenetix > Incidental Mutations

Incidental Mutation 'R6427:Cyp2j7'

535648

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

Accession Numbers

Is this an essential gene?

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

Stock #

R6427 (G1)

Quality Score

65.0073

Status

Validated

Chromosome

Chromosomal Location

96195197-96236659 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 96227667 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 181 (D181Y)

Ref Sequence

ENSEMBL: ENSMUSP00000134331 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162514
AA Change: D181Y

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134331
Gene: ENSMUSG00000081362
AA Change: D181Y

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: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

93% (39/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,602,436		probably benign	Het
Ankmy2	A	G	12: 36,187,711	S270G	possibly damaging	Het
Anxa2	T	A	9: 69,476,149		probably null	Het
Arid1a	G	T	4: 133,681,524	P1891T	unknown	Het
Atn1	G	T	6: 124,746,176		probably benign	Het
Atp8b3	A	T	10: 80,520,323		probably null	Het
Cab39l	A	C	14: 59,506,270	K94N	possibly damaging	Het
Cacna2d2	G	T	9: 107,515,442	M528I	possibly damaging	Het
Ccnc	T	A	4: 21,747,578		probably null	Het
Clasp2	C	T	9: 113,892,444	T774I	probably damaging	Het
Cngb1	C	T	8: 95,297,759		probably benign	Het
Cpt1a	T	A	19: 3,362,156	F209L	probably damaging	Het
Daam2	C	T	17: 49,469,376	E828K	probably damaging	Het
Ddr1	C	A	17: 35,687,222	R477L	probably benign	Het
Ech1	A	G	7: 28,825,885	T22A	probably benign	Het
Fbln5	T	C	12: 101,761,822	D294G	possibly damaging	Het
Fkbp15	T	C	4: 62,323,202	I569V	probably benign	Het
Hmcn1	G	T	1: 150,697,476	R2141S	possibly damaging	Het
Kat6b	T	C	14: 21,517,412	S180P	probably benign	Het
Lepr	G	A	4: 101,774,257	E655K	possibly damaging	Het
Mro	T	A	18: 73,872,033	L69Q	probably damaging	Het
Nipbl	A	T	15: 8,351,565	L581H	probably benign	Het
Nkiras2	C	T	11: 100,625,035	R63W	probably damaging	Het
Nlrp4e	T	A	7: 23,320,633	S182T	possibly damaging	Het
Olfr548-ps1	A	T	7: 102,542,688	I251F	probably benign	Het
Otud4	T	C	8: 79,668,497	S553P	probably benign	Het
Pcdha4	T	C	18: 36,953,733	I323T	probably benign	Het
Polr1b	G	T	2: 129,123,261	A756S	probably damaging	Het
Prex2	A	T	1: 11,182,031	Y1100F	probably damaging	Het
Rnf219	T	C	14: 104,480,226	K237R	possibly damaging	Het
Serpinb6a	A	T	13: 33,918,259	S328T	probably damaging	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Stxbp5	T	C	10: 9,899,254	T52A	probably damaging	Het
Taf3	A	T	2: 9,951,353	F515I	probably damaging	Het
Unc13b	A	G	4: 43,176,966		probably benign	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Vps51	T	C	19: 6,070,917	Y322C	possibly damaging	Het
Wdr66	T	C	5: 123,326,533	L1268P	probably damaging	Het
Zfp735	G	A	11: 73,690,314	C59Y	possibly damaging	Het
Zfp759	A	G	13: 67,139,098		probably null	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
R1447:Cyp2j7	UTSW	4	96195293	missense	possibly damaging	0.90
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
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'- TCTTTCAAGAAATATGCAAAGGCAG -3'
(R):5'- AGATATCTACATTACACTCTACTGTGC -3'

Sequencing Primer
(F):5'- GGCAACTTACCACTAACATCATTG -3'
(R):5'- GGCAGGCAGGCAGGAAG -3'

Posted On

2018-09-24