Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02691:Cyp2j12'

303775

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2j12

Ensembl Gene

ENSMUSG00000081225

Gene Name

cytochrome P450, family 2, subfamily j, polypeptide 12

Synonyms

OTTMUSG00000007939, Cyp2j12-ps

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL02691

Quality Score

Status

Chromosome

Chromosomal Location

95987555-96029389 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 96021231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133811 (fasta)

Gene Model

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

AlphaFold

G3UXT0

Predicted Effect

probably null
Transcript: ENSMUST00000097972

SMART Domains

Protein: ENSMUSP00000133811
Gene: ENSMUSG00000081225

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,655,457 (GRCm39)	S40P	probably benign	Het
Actl9	G	T	17: 33,652,092 (GRCm39)	V51L	probably damaging	Het
Adcy6	A	T	15: 98,502,185 (GRCm39)	F143Y	probably damaging	Het
Agps	A	T	2: 75,722,204 (GRCm39)	I465F	probably benign	Het
Armc3	T	A	2: 19,240,295 (GRCm39)	F17L	probably damaging	Het
Arsk	A	C	13: 76,223,069 (GRCm39)	M176R	probably damaging	Het
Asz1	G	A	6: 18,076,556 (GRCm39)	T212I	probably damaging	Het
Atp6v1a	A	G	16: 43,931,982 (GRCm39)	I102T	probably damaging	Het
Bpifb6	T	A	2: 153,744,565 (GRCm39)	L2Q	unknown	Het
Cad	A	G	5: 31,212,638 (GRCm39)	Y45C	probably damaging	Het
Ccdc93	A	G	1: 121,414,342 (GRCm39)	D451G	possibly damaging	Het
Cenpj	A	G	14: 56,789,547 (GRCm39)	I834T	probably benign	Het
Dhx8	G	A	11: 101,642,830 (GRCm39)		probably benign	Het
Dync1i1	A	G	6: 5,800,767 (GRCm39)		probably benign	Het
Ell2	T	A	13: 75,904,605 (GRCm39)	D99E	probably damaging	Het
Enpp1	G	T	10: 24,587,790 (GRCm39)	P34T	probably damaging	Het
Fras1	T	A	5: 96,892,564 (GRCm39)	V2888E	possibly damaging	Het
Gmfg	A	G	7: 28,144,295 (GRCm39)	Y40C	probably damaging	Het
Gnal	T	C	18: 67,355,746 (GRCm39)	I369T	probably damaging	Het
Gzmn	T	C	14: 56,404,370 (GRCm39)	T156A	probably benign	Het
H2-DMb2	A	T	17: 34,366,832 (GRCm39)	H88L	probably benign	Het
Ighv7-3	T	C	12: 114,117,016 (GRCm39)	T49A	probably benign	Het
Jakmip3	C	T	7: 138,628,573 (GRCm39)	Q450*	probably null	Het
Klhl20	A	T	1: 160,934,444 (GRCm39)		probably benign	Het
Klk6	A	G	7: 43,477,924 (GRCm39)	T99A	probably benign	Het
Lhx3	A	G	2: 26,093,097 (GRCm39)	C118R	probably damaging	Het
Mapkbp1	T	C	2: 119,803,655 (GRCm39)		probably benign	Het
Naa15	A	G	3: 51,358,747 (GRCm39)	E294G	probably damaging	Het
Nfia	C	T	4: 97,970,045 (GRCm39)	Q373*	probably null	Het
Notch2	C	A	3: 98,042,923 (GRCm39)	Y1429*	probably null	Het
Oc90	A	G	15: 65,754,410 (GRCm39)	S252P	probably damaging	Het
Or56a3b	A	G	7: 104,771,338 (GRCm39)	I225V	probably damaging	Het
Or8k37	T	C	2: 86,469,182 (GRCm39)	Y290C	probably damaging	Het
Pde3b	T	A	7: 114,107,320 (GRCm39)		probably benign	Het
Pdss1	G	A	2: 22,805,253 (GRCm39)	V211I	probably benign	Het
Phactr1	G	T	13: 43,231,213 (GRCm39)	M226I	probably benign	Het
Phf11c	A	G	14: 59,622,236 (GRCm39)	S259P	probably damaging	Het
Phf20l1	A	G	15: 66,476,713 (GRCm39)	N269S	probably damaging	Het
Piezo1	A	G	8: 123,228,688 (GRCm39)	V229A	possibly damaging	Het
Plcb2	T	C	2: 118,541,444 (GRCm39)	K997R	probably benign	Het
Ppm1m	A	T	9: 106,072,568 (GRCm39)	V449E	probably damaging	Het
Ppp1r36dn	T	C	12: 76,498,073 (GRCm39)		noncoding transcript	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Rgs14	A	G	13: 55,526,836 (GRCm39)		probably null	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Scamp5	G	T	9: 57,358,660 (GRCm39)	R39S	probably damaging	Het
Slc5a6	C	T	5: 31,199,518 (GRCm39)	V15I	probably damaging	Het
Snx25	A	T	8: 46,558,302 (GRCm39)	V235E	possibly damaging	Het
Tdrd1	G	T	19: 56,832,284 (GRCm39)	E400D	probably damaging	Het
Tln1	T	C	4: 43,539,544 (GRCm39)	R1593G	probably benign	Het
Trdv2-2	T	C	14: 54,199,039 (GRCm39)	F110L	possibly damaging	Het
Ush2a	A	C	1: 188,466,949 (GRCm39)	Y2871S	probably damaging	Het
Vars2	A	C	17: 35,971,140 (GRCm39)	L592R	probably damaging	Het
Vipr2	T	A	12: 116,099,849 (GRCm39)	C239S	probably benign	Het
Vmn1r200	A	T	13: 22,579,428 (GRCm39)	D68V	probably damaging	Het
Vmn1r7	A	T	6: 57,001,373 (GRCm39)	S296T	probably benign	Het
Vmn2r95	T	C	17: 18,672,120 (GRCm39)	I619T	probably benign	Het

Other mutations in Cyp2j12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Cyp2j12	APN	4	95,994,826 (GRCm39)	splice site	probably benign
IGL01655:Cyp2j12	APN	4	96,003,814 (GRCm39)	missense	possibly damaging	0.79
IGL01723:Cyp2j12	APN	4	95,990,363 (GRCm39)	missense	possibly damaging	0.56
IGL01737:Cyp2j12	APN	4	96,010,895 (GRCm39)	makesense	probably null
IGL01936:Cyp2j12	APN	4	96,021,306 (GRCm39)	missense	probably benign	0.01
IGL01962:Cyp2j12	APN	4	95,987,999 (GRCm39)	missense	probably benign	0.10
R0255:Cyp2j12	UTSW	4	96,029,262 (GRCm39)	missense	probably benign	0.38
R0613:Cyp2j12	UTSW	4	95,990,316 (GRCm39)	missense	probably damaging	1.00
R0827:Cyp2j12	UTSW	4	96,001,099 (GRCm39)	splice site	probably benign
R1016:Cyp2j12	UTSW	4	96,001,102 (GRCm39)	critical splice donor site	probably null
R1251:Cyp2j12	UTSW	4	96,003,903 (GRCm39)	nonsense	probably null
R1753:Cyp2j12	UTSW	4	96,009,669 (GRCm39)	splice site	probably null
R2258:Cyp2j12	UTSW	4	96,021,315 (GRCm39)	missense	probably damaging	1.00
R4471:Cyp2j12	UTSW	4	96,021,306 (GRCm39)	missense	probably benign	0.01
R4559:Cyp2j12	UTSW	4	96,001,194 (GRCm39)	missense	probably damaging	0.99
R4702:Cyp2j12	UTSW	4	96,021,230 (GRCm39)	critical splice donor site	probably null
R4923:Cyp2j12	UTSW	4	95,990,346 (GRCm39)	missense	possibly damaging	0.91
R4928:Cyp2j12	UTSW	4	95,990,388 (GRCm39)	splice site	probably null
R5591:Cyp2j12	UTSW	4	96,029,359 (GRCm39)	start gained	probably benign
R5897:Cyp2j12	UTSW	4	95,990,279 (GRCm39)	missense	probably damaging	1.00
R6176:Cyp2j12	UTSW	4	96,029,074 (GRCm39)	missense	probably damaging	0.99
R6942:Cyp2j12	UTSW	4	96,001,101 (GRCm39)	critical splice donor site	probably null
R7422:Cyp2j12	UTSW	4	96,029,222 (GRCm39)	missense	probably benign	0.05
R7453:Cyp2j12	UTSW	4	95,990,363 (GRCm39)	missense	possibly damaging	0.95
R7839:Cyp2j12	UTSW	4	95,987,893 (GRCm39)	missense	possibly damaging	0.94
R8437:Cyp2j12	UTSW	4	95,987,899 (GRCm39)	missense	probably damaging	1.00
R8445:Cyp2j12	UTSW	4	96,021,259 (GRCm39)	missense	possibly damaging	0.82
R8683:Cyp2j12	UTSW	4	96,009,805 (GRCm39)	missense	probably benign	0.41
R8701:Cyp2j12	UTSW	4	96,009,810 (GRCm39)	missense	possibly damaging	0.81
R8864:Cyp2j12	UTSW	4	96,009,750 (GRCm39)	missense	probably damaging	1.00
R8924:Cyp2j12	UTSW	4	95,994,685 (GRCm39)	missense	probably damaging	1.00
R9330:Cyp2j12	UTSW	4	95,994,791 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16