Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01962:Cyp2j12'

182431

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 #

IGL01962

Quality Score

Status

Chromosome

Chromosomal Location

95987555-96029389 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95987999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 464 (A464T)

Ref Sequence

ENSEMBL: ENSMUSP00000133811 (fasta)

Gene Model

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

AlphaFold

G3UXT0

Predicted Effect

probably benign
Transcript: ENSMUST00000097972
AA Change: A464T

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000133811
Gene: ENSMUSG00000081225
AA Change: A464T

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,324,514 (GRCm39)	F253S	probably benign	Het
AI429214	T	A	8: 37,461,383 (GRCm39)	I177N	probably damaging	Het
Astn1	C	A	1: 158,496,201 (GRCm39)	T1077K	probably damaging	Het
Asxl3	A	T	18: 22,655,502 (GRCm39)	I1171L	probably benign	Het
Cdca2	A	T	14: 67,943,172 (GRCm39)	S206T	probably damaging	Het
Chd3	T	C	11: 69,248,319 (GRCm39)	M858V	possibly damaging	Het
Fryl	A	T	5: 73,190,134 (GRCm39)	D2787E	possibly damaging	Het
Hmx3	G	A	7: 131,146,000 (GRCm39)	R236H	probably damaging	Het
Il1rap	T	A	16: 26,529,318 (GRCm39)	C330*	probably null	Het
Klrc1	A	T	6: 129,655,865 (GRCm39)	N3K	probably damaging	Het
Nars1	A	G	18: 64,643,554 (GRCm39)	F142L	probably benign	Het
Nipal1	A	G	5: 72,825,401 (GRCm39)	S365G	possibly damaging	Het
Or1n1	T	A	2: 36,749,787 (GRCm39)	H191L	probably benign	Het
Or2ag15	G	A	7: 106,340,991 (GRCm39)	T50I	probably benign	Het
Or51s1	T	G	7: 102,559,054 (GRCm39)		probably benign	Het
Or8k17	C	A	2: 86,066,456 (GRCm39)	R234M	probably damaging	Het
Pcdhb4	A	G	18: 37,442,057 (GRCm39)	T456A	possibly damaging	Het
Pcdhb5	G	A	18: 37,454,093 (GRCm39)	D158N	probably damaging	Het
Pcsk2	C	T	2: 143,655,552 (GRCm39)	Q579*	probably null	Het
Phactr4	G	A	4: 132,091,086 (GRCm39)	R577W	probably damaging	Het
Rbms3	T	C	9: 116,524,879 (GRCm39)		probably benign	Het
Rxfp1	T	G	3: 79,594,175 (GRCm39)	D73A	probably damaging	Het
Scmh1	A	T	4: 120,340,781 (GRCm39)		probably benign	Het
Syk	T	G	13: 52,764,993 (GRCm39)	L40R	probably damaging	Het
Tcn2	T	C	11: 3,875,072 (GRCm39)	N153S	probably benign	Het
Tnks	A	G	8: 35,336,678 (GRCm39)	L502P	probably damaging	Het
Vmn2r111	A	G	17: 22,767,265 (GRCm39)	V744A	possibly damaging	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
IGL02691:Cyp2j12	APN	4	96,021,231 (GRCm39)	critical splice donor site	probably null
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

2014-05-07