Mutagenetix > Incidental Mutations

Incidental Mutation 'R4326:Cyp2j8'

324355

Institutional Source

Beutler Lab

Gene Symbol

Cyp2j8

Ensembl Gene

ENSMUSG00000082932

Gene Name

cytochrome P450, family 2, subfamily j, polypeptide 8

Synonyms

Cyp2j8-ps, OTTMUSG00000007938

MMRRC Submission

041096-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R4326 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96444596-96507386 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96507329 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 20 (T20S)

Ref Sequence

ENSEMBL: ENSMUSP00000134591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124729]

Predicted Effect

probably benign
Transcript: ENSMUST00000124729
AA Change: T20S

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134591
Gene: ENSMUSG00000082932
AA Change: T20S

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:p450	44	500	1.2e-134	PFAM

Meta Mutation Damage Score

0.0738

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	A	G	19: 7,421,226		probably benign	Het
3110043O21Rik	T	A	4: 35,225,985		probably benign	Het
Abcd3	A	G	3: 121,761,470	V616A	probably benign	Het
Abhd17a	A	G	10: 80,584,050	S241P	probably benign	Het
Adamts15	T	C	9: 30,904,518	S681G	probably benign	Het
Arap2	A	T	5: 62,621,863	H1461Q	possibly damaging	Het
Armc3	A	G	2: 19,300,473	K681E	probably damaging	Het
Arrdc5	T	C	17: 56,294,420	E235G	possibly damaging	Het
Atxn1	T	C	13: 45,965,967		probably benign	Het
Capn13	C	A	17: 73,331,108	K433N	probably benign	Het
Ccdc113	G	A	8: 95,557,268	M323I	probably benign	Het
Cd55	A	T	1: 130,452,483	C253S	probably damaging	Het
Dnah8	G	A	17: 30,752,092	V2707M	probably benign	Het
Erlec1	C	T	11: 30,949,972	E166K	probably benign	Het
Fastkd2	A	G	1: 63,752,357	K675E	probably benign	Het
Gid4	G	A	11: 60,417,836	V61M	possibly damaging	Het
Glt28d2	G	A	3: 85,872,086	Q27*	probably null	Het
Ipo8	A	T	6: 148,800,164		probably benign	Het
Isx	A	G	8: 74,873,656	I6V	probably benign	Het
Itsn1	A	G	16: 91,853,855		probably benign	Het
Klhl40	A	G	9: 121,778,890	D372G	probably benign	Het
Krt80	C	T	15: 101,352,308	V19M	possibly damaging	Het
Lingo2	T	A	4: 35,708,462	D506V	probably damaging	Het
Lmo7	A	T	14: 101,900,074	E504D	possibly damaging	Het
Lpcat4	G	A	2: 112,246,392	E454K	probably benign	Het
Macf1	C	T	4: 123,382,212	A4176T	probably damaging	Het
Noxo1	G	A	17: 24,698,963	R81H	probably benign	Het
Olfr479	T	C	7: 108,055,155	Y58H	probably damaging	Het
Olfr854	T	A	9: 19,567,022	M121L	possibly damaging	Het
Pafah1b1	T	C	11: 74,682,240	T333A	probably benign	Het
Pak1ip1	A	G	13: 41,004,756	D35G	possibly damaging	Het
Pak3	T	C	X: 143,733,209		probably null	Het
Pcdhb9	A	T	18: 37,401,822	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,401,823	S290I	probably benign	Het
Ppp2r2d	T	A	7: 138,868,485	V25D	probably damaging	Het
Prdm15	G	T	16: 97,806,515	N709K	probably damaging	Het
Ptprs	C	A	17: 56,447,468	A191S	possibly damaging	Het
Rrs1	G	T	1: 9,546,341	R273L	possibly damaging	Het
Sin3a	T	C	9: 57,095,358	L178P	probably damaging	Het
Slc13a1	A	G	6: 24,103,479	V355A	probably benign	Het
Spen	T	G	4: 141,477,372	N1315H	unknown	Het
Ssrp1	A	G	2: 85,040,217		probably benign	Het
St7	G	A	6: 17,819,288	V64M	probably damaging	Het
Syne2	C	A	12: 75,952,742	A2304E	probably damaging	Het
Tcf25	T	A	8: 123,401,143	L622*	probably null	Het
Tmem107	G	T	11: 69,071,475		probably null	Het
Tmem62	T	A	2: 120,980,510	N156K	probably damaging	Het
Wdr90	G	T	17: 25,853,731	R884S	probably benign	Het
Zfp184	T	C	13: 21,959,902	Y593H	probably damaging	Het
Zfp934	T	G	13: 62,517,559	N312H	probably benign	Het

Other mutations in Cyp2j8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Cyp2j8	APN	4	96503842	missense	probably benign	0.06
IGL00418:Cyp2j8	APN	4	96444616	missense	possibly damaging	0.85
IGL01577:Cyp2j8	APN	4	96479071	missense	probably damaging	0.96
IGL01629:Cyp2j8	APN	4	96499603	missense	probably damaging	1.00
IGL01928:Cyp2j8	APN	4	96470476	splice site	probably benign
IGL01978:Cyp2j8	APN	4	96504009	splice site	probably null
IGL02053:Cyp2j8	APN	4	96470654	missense	probably damaging	1.00
IGL02500:Cyp2j8	APN	4	96470650	missense	probably damaging	1.00
IGL02947:Cyp2j8	APN	4	96470578	missense	probably damaging	1.00
cyprus	UTSW	4	96499603	missense	probably damaging	1.00
R0558:Cyp2j8	UTSW	4	96444634	missense	probably benign	0.01
R0718:Cyp2j8	UTSW	4	96501196	missense	probably benign
R1553:Cyp2j8	UTSW	4	96475557	missense	probably benign
R1557:Cyp2j8	UTSW	4	96470476	splice site	probably benign
R1632:Cyp2j8	UTSW	4	96447324	missense	probably benign	0.02
R1708:Cyp2j8	UTSW	4	96499595	missense	probably damaging	1.00
R2119:Cyp2j8	UTSW	4	96507201	missense	probably benign
R2220:Cyp2j8	UTSW	4	96444625	missense	probably benign	0.03
R3123:Cyp2j8	UTSW	4	96501213	splice site	probably benign
R3735:Cyp2j8	UTSW	4	96444599	missense	probably damaging	1.00
R3736:Cyp2j8	UTSW	4	96444599	missense	probably damaging	1.00
R4327:Cyp2j8	UTSW	4	96507329	missense	probably benign	0.10
R4762:Cyp2j8	UTSW	4	96470649	missense	probably damaging	1.00
R4901:Cyp2j8	UTSW	4	96479086	missense	probably benign	0.16
R4960:Cyp2j8	UTSW	4	96507377	missense	probably benign
R5260:Cyp2j8	UTSW	4	96501064	missense	possibly damaging	0.65
R5562:Cyp2j8	UTSW	4	96470653	missense	probably damaging	1.00
R5596:Cyp2j8	UTSW	4	96507341	missense	probably benign	0.00
R5741:Cyp2j8	UTSW	4	96444643	missense	probably benign	0.00
R5825:Cyp2j8	UTSW	4	96507214	missense	probably benign	0.01
R5903:Cyp2j8	UTSW	4	96507277	missense	possibly damaging	0.46
R6122:Cyp2j8	UTSW	4	96444640	missense	probably benign
R6232:Cyp2j8	UTSW	4	96507190	missense	possibly damaging	0.94
R6748:Cyp2j8	UTSW	4	96475545	missense	probably benign	0.01
R6931:Cyp2j8	UTSW	4	96444781	splice site	probably null
R7000:Cyp2j8	UTSW	4	96447351	missense	probably benign	0.06
R7183:Cyp2j8	UTSW	4	96479181	missense	probably damaging	0.97
R7186:Cyp2j8	UTSW	4	96475550	missense	probably benign	0.00
R7348:Cyp2j8	UTSW	4	96444640	missense	probably benign	0.00
R7575:Cyp2j8	UTSW	4	96470548	missense	possibly damaging	0.63
R7648:Cyp2j8	UTSW	4	96499603	missense	probably damaging	1.00
R7975:Cyp2j8	UTSW	4	96470539	missense	possibly damaging	0.65
R7993:Cyp2j8	UTSW	4	96447219	critical splice donor site	probably null
R8878:Cyp2j8	UTSW	4	96470570	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- ATTTCTTACCGGCTGGATCC -3'
(R):5'- TTCGTTGCAGAAGACTGGCAG -3'

Sequencing Primer
(F):5'- CTGGATCCCCAAATGCAGATGTG -3'
(R):5'- CTAATAGGGATAGGGTGAATGTACC -3'

Posted On

2015-06-24