Mutagenetix > Incidental Mutation

Incidental Mutation 'R6122:Cyp2j8'

485759

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

044269-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96444596-96507386 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96444640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 490 (A490T)

Ref Sequence

ENSEMBL: ENSMUSP00000134591 (fasta)

Gene Model

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

AlphaFold

G3UZ38

Predicted Effect

probably benign
Transcript: ENSMUST00000124729
AA Change: A490T

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

SMART Domains

Protein: ENSMUSP00000134591
Gene: ENSMUSG00000082932
AA Change: A490T

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,252	*301W	probably null	Het
Abat	A	G	16: 8,605,550	I236V	probably benign	Het
Abca8a	T	C	11: 110,070,423	T558A	probably benign	Het
Ace3	A	C	11: 105,994,938	M57L	probably benign	Het
Adgrg1	T	C	8: 95,002,501	S18P	probably benign	Het
Ahi1	A	G	10: 21,058,165	D60G	probably benign	Het
Ap4e1	T	A	2: 127,028,160		probably null	Het
Arnt2	C	A	7: 84,361,565	K34N	probably damaging	Het
Ascc3	T	A	10: 50,617,925	M152K	probably benign	Het
AW551984	A	T	9: 39,593,755	F480L	probably benign	Het
Blvrb	G	A	7: 27,459,348	A58T	possibly damaging	Het
Bpifa1	C	T	2: 154,143,972	T69I	probably benign	Het
Cacna1g	T	A	11: 94,430,171	M1366L	probably benign	Het
Ccdc82	A	G	9: 13,266,412	I361V	probably benign	Het
Clca4b	T	A	3: 144,926,166	I193F	possibly damaging	Het
Crb1	A	T	1: 139,248,948	Y371*	probably null	Het
Cul9	T	C	17: 46,521,928	D1363G	possibly damaging	Het
D430041D05Rik	A	T	2: 104,256,292	S780T	probably benign	Het
Fzd5	G	T	1: 64,735,656	C315*	probably null	Het
Gabrr1	T	C	4: 33,161,695	S340P	probably damaging	Het
Galnt7	T	C	8: 57,526,166	D641G	probably damaging	Het
Gm7133	A	G	1: 97,183,223		noncoding transcript	Het
Heatr5b	A	G	17: 78,813,173	L774P	possibly damaging	Het
Itch	T	A	2: 155,174,065	S157T	probably benign	Het
Itgam	A	C	7: 128,085,652	D398A	probably damaging	Het
Kalrn	G	T	16: 33,985,191	L2659M	possibly damaging	Het
Kcnj14	C	A	7: 45,819,451	R210L	possibly damaging	Het
Kmt2d	T	C	15: 98,860,692		probably benign	Het
Krt2	G	C	15: 101,815,914	T305S	probably damaging	Het
Mcm3ap	A	G	10: 76,506,607	N1645D	probably damaging	Het
Naf1	T	A	8: 66,883,444	I341K	probably damaging	Het
Nbea	G	T	3: 56,029,896	H765N	probably damaging	Het
Ncapd3	A	G	9: 27,063,982	I776V	probably benign	Het
Neo1	A	T	9: 58,917,008	D712E	probably benign	Het
Neu1	G	A	17: 34,934,754	V385I	probably benign	Het
Olfr114	C	A	17: 37,589,926	R142S	probably benign	Het
Olfr575	C	A	7: 102,954,804	G273C	probably damaging	Het
Olfr575	A	G	7: 102,955,530	Y24H	probably benign	Het
Pgghg	A	C	7: 140,943,395	T196P	possibly damaging	Het
Pira2	A	T	7: 3,842,446	V313E	probably damaging	Het
Pkd1l2	T	C	8: 117,082,368	R28G	probably benign	Het
Pkhd1l1	T	C	15: 44,557,940	S3035P	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,509	N21K	probably damaging	Het
Prune1	T	C	3: 95,262,243	D216G	probably benign	Het
Ptpn23	G	T	9: 110,387,825		probably benign	Het
Ranbp2	T	A	10: 58,465,529	M668K	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpsa	G	T	9: 120,131,036	V222L	probably benign	Het
Sept2	A	G	1: 93,497,376	T45A	probably damaging	Het
Slc12a8	A	T	16: 33,625,014	D260V	probably damaging	Het
Srrm2	G	T	17: 23,820,356	M2087I	possibly damaging	Het
Tg	T	C	15: 66,828,457	L88P	probably damaging	Het
Tns1	A	G	1: 73,952,419		probably null	Het
Topbp1	A	T	9: 103,346,961	D1429V	probably benign	Het
Tprg	A	G	16: 25,422,401		probably null	Het
Trit1	T	C	4: 123,039,468	I66T	possibly damaging	Het
Usf3	A	T	16: 44,217,307	I717L	probably damaging	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
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
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'- TGCTCATTGCCAAATTAAGGG -3'
(R):5'- GCACCAATGTCAACTGAGAAAG -3'

Sequencing Primer
(F):5'- GCCAAATTAAGGGCCTAAGAATC -3'
(R):5'- ACCAATGTCAACTGAGAAAGTAATTC -3'

Posted On

2017-08-16