Mutagenetix > Incidental Mutation

Incidental Mutation 'R1553:Cyp2j8'

170067

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

039592-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1553 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96444596-96507386 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96475557 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 290 (Y290H)

Ref Sequence

ENSEMBL: ENSMUSP00000134591 (fasta)

Gene Model

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

AlphaFold

G3UZ38

Predicted Effect

probably benign
Transcript: ENSMUST00000124729
AA Change: Y290H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134591
Gene: ENSMUSG00000082932
AA Change: Y290H

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	G	T	5: 24,408,750	A649S	probably damaging	Het
Adam6a	T	A	12: 113,545,215	C403S	probably damaging	Het
Adgrg3	T	C	8: 95,040,268	F417S	possibly damaging	Het
Ago1	T	C	4: 126,440,401	E439G	probably damaging	Het
Alox15	A	G	11: 70,349,632	V241A	possibly damaging	Het
Arhgap6	A	G	X: 169,265,484	H566R	probably damaging	Het
Asap1	A	T	15: 64,152,852	F345I	probably benign	Het
Atp1b2	A	G	11: 69,602,852	Y134H	probably damaging	Het
Atp8b3	G	A	10: 80,532,542	T199M	probably damaging	Het
Calb1	A	T	4: 15,895,656	S115C	probably damaging	Het
Ccdc68	A	T	18: 69,940,121	I47F	probably damaging	Het
Cdc42bpa	A	T	1: 180,093,975	N560I	probably benign	Het
Cdhr3	T	C	12: 33,042,371	D747G	probably benign	Het
Cdk5rap1	T	G	2: 154,352,251	N378T	probably damaging	Het
Chil4	T	G	3: 106,203,690	N296T	probably benign	Het
Cryaa	G	A	17: 31,679,559	V87I	probably damaging	Het
Csk	G	A	9: 57,630,942	L28F	probably damaging	Het
Cspp1	A	G	1: 10,085,897	N444D	possibly damaging	Het
Eps8l1	A	T	7: 4,477,449	D563V	probably damaging	Het
Fam111a	A	T	19: 12,587,318	S144C	possibly damaging	Het
Fam135a	A	T	1: 24,021,870	S1145R	probably damaging	Het
Fpr2	T	A	17: 17,893,594	V284D	possibly damaging	Het
Furin	A	G	7: 80,398,592		probably null	Het
Gatd1	T	C	7: 141,409,893	T135A	probably benign	Het
Gdf3	A	G	6: 122,609,765	S68P	probably benign	Het
Gm6871	T	C	7: 41,546,398	H305R	probably benign	Het
Grip1	A	G	10: 120,054,851	S917G	probably damaging	Het
Hdac10	T	A	15: 89,125,515	E388V	possibly damaging	Het
Hectd1	T	C	12: 51,773,878	N1176S	probably damaging	Het
Hectd4	A	G	5: 121,349,259	D3439G	probably benign	Het
Kcna4	T	C	2: 107,296,687	Y589H	probably benign	Het
Kcnk5	A	T	14: 20,142,394	L233Q	probably damaging	Het
Kcnt1	T	C	2: 25,900,385	I453T	probably damaging	Het
Kifc3	A	G	8: 95,106,542	I440T	possibly damaging	Het
Krt10	C	A	11: 99,385,980	G40*	probably null	Het
Lce1i	A	T	3: 92,777,795	C25S	unknown	Het
Met	A	G	6: 17,491,461	N74S	probably benign	Het
Naa35	G	A	13: 59,618,279		probably null	Het
Naalad2	T	C	9: 18,378,669	N221S	probably benign	Het
Nolc1	AGCG	AGCGGCG	19: 46,081,375		probably benign	Het
Nsmf	T	C	2: 25,060,259	V181A	probably damaging	Het
Nwd2	T	A	5: 63,800,505	S393T	probably benign	Het
Olfr530	T	A	7: 140,373,038	T191S	probably damaging	Het
Olfr575	T	A	7: 102,955,218	I128L	possibly damaging	Het
Olfr709-ps1	A	T	7: 106,926,994	V155E	possibly damaging	Het
Papola	T	A	12: 105,820,410	S453R	probably benign	Het
Paqr9	A	G	9: 95,560,209	N84S	probably damaging	Het
Pde5a	T	C	3: 122,778,936	V290A	probably benign	Het
Prf1	T	C	10: 61,303,169	V302A	probably damaging	Het
Psg18	T	C	7: 18,353,481	Y84C	probably benign	Het
Rasgrf2	C	T	13: 91,890,664	R1021H	probably damaging	Het
Rnf114	G	T	2: 167,512,602	R201L	possibly damaging	Het
Rp1l1	A	G	14: 64,031,894	E1643G	probably benign	Het
Scg3	T	A	9: 75,669,304	E263V	probably null	Het
Scn2a	C	T	2: 65,713,836	R854*	probably null	Het
Setdb2	T	C	14: 59,417,485	K319E	probably benign	Het
Stub1	A	T	17: 25,832,123	V95E	probably damaging	Het
Tas2r140	T	A	6: 133,055,508	N96Y	probably damaging	Het
Tecta	T	A	9: 42,348,186	D1467V	probably damaging	Het
Tenm3	T	A	8: 48,236,421	T2044S	probably damaging	Het
Tlr2	T	A	3: 83,837,463	M438L	probably benign	Het
Tmem179	T	C	12: 112,504,660	Y106C	probably benign	Het
Tspan7	A	G	X: 10,585,615	H187R	probably benign	Het
Ttn	T	C	2: 76,927,275	D3332G	probably damaging	Het
Upp2	T	C	2: 58,790,140	F326S	probably damaging	Het
Usp2	T	A	9: 44,092,155	D224E	probably damaging	Het
Vmn1r5	T	A	6: 56,985,498	F53I	probably benign	Het
Wapl	T	A	14: 34,729,190	L727H	probably damaging	Het
Wipf1	T	C	2: 73,437,526	D176G	possibly damaging	Het
Xpnpep1	G	T	19: 53,006,338	D243E	probably benign	Het
Zfp616	A	T	11: 74,083,918	I429F	possibly damaging	Het
Zfyve26	G	A	12: 79,287,761	P161L	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
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
R4326:Cyp2j8	UTSW	4	96507329	missense	probably benign	0.10
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'- ATGCTCACCTTGCACTTCTGGATTAAC -3'
(R):5'- TCTCATTTGAAGCAGAACAGCAATACCC -3'

Sequencing Primer
(F):5'- TTAACAGTTATGTAGAGCAGAGCCC -3'
(R):5'- tctgaagagaaactgaggataagtg -3'

Posted On

2014-04-13