Mutagenetix > Incidental Mutation

Incidental Mutation 'R4559:Cyp2j12'

342977

Institutional Source

Beutler Lab

Gene Symbol

Cyp2j12

Ensembl Gene

ENSMUSG00000081225

Gene Name

cytochrome P450, family 2, subfamily j, polypeptide 12

Synonyms

OTTMUSG00000007939, Cyp2j12-ps

MMRRC Submission

041785-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R4559 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96099318-96141152 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96112957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 304 (S304R)

Ref Sequence

ENSEMBL: ENSMUSP00000133811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097972] [ENSMUST00000121694]

AlphaFold

G3UXT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000097972
AA Change: S304R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133811
Gene: ENSMUSG00000081225
AA Change: S304R

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:p450	44	498	8.2e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121694

SMART Domains

Protein: ENSMUSP00000134394
Gene: ENSMUSG00000081225

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
SCOP:d1cpt__	39	70	2e-8	SMART

Meta Mutation Damage Score

0.5782

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017G19Rik	A	G	3: 40,513,091		noncoding transcript	Het
1700066M21Rik	T	C	1: 57,382,924	F153S	possibly damaging	Het
Acss1	A	G	2: 150,638,485	V222A	probably benign	Het
Atad2b	A	G	12: 4,943,223	I247M	probably benign	Het
Atxn10	A	G	15: 85,438,120	I398V	possibly damaging	Het
Cep192	T	A	18: 67,871,513	C2312S	probably damaging	Het
Cidea	C	T	18: 67,360,228	Q106*	probably null	Het
Cnga4	A	G	7: 105,405,685	T159A	probably damaging	Het
Dsg4	T	A	18: 20,470,921	V815E	probably damaging	Het
Fam122b	G	A	X: 53,260,677		probably benign	Het
Fam189a2	G	A	19: 24,030,549	S130L	probably damaging	Het
Farp1	T	C	14: 121,272,801	M737T	probably damaging	Het
Fbn1	T	A	2: 125,351,714	D1395V	possibly damaging	Het
Fbn2	C	T	18: 58,076,074	M1076I	probably benign	Het
Fitm2	T	A	2: 163,472,673		probably benign	Het
Fras1	A	G	5: 96,781,289	R3851G	probably damaging	Het
Frem2	C	T	3: 53,654,321	V922I	probably benign	Het
Gm10719	A	T	9: 3,018,945	T200S	probably benign	Het
Grin3a	T	C	4: 49,844,555	D176G	probably damaging	Het
Hdac5	T	C	11: 102,199,102		probably benign	Het
Ift140	C	A	17: 25,090,767	H1090Q	probably damaging	Het
Il20ra	A	G	10: 19,749,284	T104A	probably damaging	Het
Il22ra2	A	G	10: 19,626,712	D93G	possibly damaging	Het
Ing1	A	G	8: 11,562,090	K176R	probably benign	Het
Jph1	A	T	1: 17,004,511	C428S	probably benign	Het
Kif13b	G	T	14: 64,806,132	G1794W	probably damaging	Het
Map10	A	G	8: 125,671,814	T649A	probably benign	Het
Med12l	T	C	3: 59,007,102		probably null	Het
Nat8f1	A	G	6: 85,910,585	I131T	probably benign	Het
Oas1d	C	A	5: 120,916,895	Q177K	probably benign	Het
Olfr1247	C	A	2: 89,609,699	M134I	probably damaging	Het
Olfr635	G	A	7: 103,979,560	D123N	probably damaging	Het
P2ry2	A	G	7: 100,998,156	V314A	possibly damaging	Het
Pfkl	G	T	10: 77,988,883	R691S	probably benign	Het
Plb1	T	A	5: 32,332,831	I1005N	probably damaging	Het
Prkacb	A	G	3: 146,745,392		probably benign	Het
Ptprm	A	T	17: 66,683,408	Y1412N	possibly damaging	Het
Rab22a	A	G	2: 173,661,433	D13G	probably damaging	Het
Rab29	G	A	1: 131,872,567	W201*	probably null	Het
Rasa3	T	C	8: 13,598,259	E135G	probably damaging	Het
Rassf10	A	G	7: 112,955,131	E313G	probably benign	Het
Sf1	GGCAGCAGCAGCAGCAGCAGC	GGCAGCAGCAGCAGCAGC	19: 6,374,815		probably benign	Het
Sipa1l3	A	T	7: 29,332,253	L468Q	probably damaging	Het
Slc17a1	A	T	13: 23,878,712	K254*	probably null	Het
Slc6a12	G	A	6: 121,363,861		probably null	Het
Slfn8	A	G	11: 83,004,744	L412P	probably damaging	Het
St5	A	G	7: 109,525,578	F665L	probably damaging	Het
Taf4b	T	C	18: 14,813,526	S469P	probably damaging	Het
Tgoln1	T	C	6: 72,615,681	E272G	probably damaging	Het
Tlr12	C	A	4: 128,615,770	G896W	probably damaging	Het
Tnfrsf1a	A	G	6: 125,360,766	I229V	probably benign	Het
Ttn	G	A	2: 76,919,546	H3720Y	probably benign	Het

Other mutations in Cyp2j12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Cyp2j12	APN	4	96106589	splice site	probably benign
IGL01655:Cyp2j12	APN	4	96115577	missense	possibly damaging	0.79
IGL01723:Cyp2j12	APN	4	96102126	missense	possibly damaging	0.56
IGL01737:Cyp2j12	APN	4	96122658	makesense	probably null
IGL01936:Cyp2j12	APN	4	96133069	missense	probably benign	0.01
IGL01962:Cyp2j12	APN	4	96099762	missense	probably benign	0.10
IGL02691:Cyp2j12	APN	4	96132994	critical splice donor site	probably null
R0255:Cyp2j12	UTSW	4	96141025	missense	probably benign	0.38
R0613:Cyp2j12	UTSW	4	96102079	missense	probably damaging	1.00
R0827:Cyp2j12	UTSW	4	96112862	splice site	probably benign
R1016:Cyp2j12	UTSW	4	96112865	critical splice donor site	probably null
R1251:Cyp2j12	UTSW	4	96115666	nonsense	probably null
R1753:Cyp2j12	UTSW	4	96121432	splice site	probably null
R2258:Cyp2j12	UTSW	4	96133078	missense	probably damaging	1.00
R4471:Cyp2j12	UTSW	4	96133069	missense	probably benign	0.01
R4702:Cyp2j12	UTSW	4	96132993	critical splice donor site	probably null
R4923:Cyp2j12	UTSW	4	96102109	missense	possibly damaging	0.91
R4928:Cyp2j12	UTSW	4	96102151	splice site	probably null
R5591:Cyp2j12	UTSW	4	96141122	start gained	probably benign
R5897:Cyp2j12	UTSW	4	96102042	missense	probably damaging	1.00
R6176:Cyp2j12	UTSW	4	96140837	missense	probably damaging	0.99
R6942:Cyp2j12	UTSW	4	96112864	critical splice donor site	probably null
R7422:Cyp2j12	UTSW	4	96140985	missense	probably benign	0.05
R7453:Cyp2j12	UTSW	4	96102126	missense	possibly damaging	0.95
R7839:Cyp2j12	UTSW	4	96099656	missense	possibly damaging	0.94
R8437:Cyp2j12	UTSW	4	96099662	missense	probably damaging	1.00
R8445:Cyp2j12	UTSW	4	96133022	missense	possibly damaging	0.82
R8683:Cyp2j12	UTSW	4	96121568	missense	probably benign	0.41
R8701:Cyp2j12	UTSW	4	96121573	missense	possibly damaging	0.81
R8864:Cyp2j12	UTSW	4	96121513	missense	probably damaging	1.00
R8924:Cyp2j12	UTSW	4	96106448	missense	probably damaging	1.00
R9330:Cyp2j12	UTSW	4	96106554	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGTACACCATGAAGGATTTTC -3'
(R):5'- AACATCACTGTCCAATGAGAGG -3'

Sequencing Primer
(F):5'- GGTCTGTCTTAAATCTGGGCAACAC -3'
(R):5'- CTGTCCAATGAGAGGAAAGGG -3'

Posted On

2015-09-24