Mutagenetix > Incidental Mutation

Incidental Mutation 'R6353:Cyp2j9'

512288

Institutional Source

Beutler Lab

Gene Symbol

Cyp2j9

Ensembl Gene

ENSMUSG00000015224

Gene Name

cytochrome P450, family 2, subfamily j, polypeptide 9

Synonyms

8430417E17Rik

MMRRC Submission

044505-MU

Accession Numbers

Essential gene?

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

Stock #

R6353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96456666-96479815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96474135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 102 (T102A)

Ref Sequence

ENSEMBL: ENSMUSP00000050464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055693]

AlphaFold

Q924D1

Predicted Effect

probably benign
Transcript: ENSMUST00000055693
AA Change: T102A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000050464
Gene: ENSMUSG00000015224
AA Change: T102A

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:p450	44	498	8.7e-137	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126509

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	C	A	9: 53,325,642 (GRCm39)	Q60K	probably benign	Het
Aadacl2fm2	A	T	3: 59,659,529 (GRCm39)	L327F	probably damaging	Het
Aamp	T	C	1: 74,319,987 (GRCm39)	D397G	probably benign	Het
Aco1	G	A	4: 40,186,367 (GRCm39)	R593Q	probably benign	Het
Acta1	T	C	8: 124,620,426 (GRCm39)	E4G	probably benign	Het
Apob	A	T	12: 8,059,421 (GRCm39)	K2601N	probably damaging	Het
Arpin	C	A	7: 79,585,093 (GRCm39)		probably benign	Het
Asnsd1	T	C	1: 53,386,938 (GRCm39)	I230V	probably benign	Het
Baiap2l1	C	T	5: 144,218,898 (GRCm39)	E237K	possibly damaging	Het
Chek1	T	C	9: 36,635,255 (GRCm39)	K43E	probably benign	Het
Clec2g	T	A	6: 128,959,895 (GRCm39)		probably null	Het
Cnot10	A	G	9: 114,426,614 (GRCm39)	L646P	probably damaging	Het
Dnase1l2	A	T	17: 24,661,219 (GRCm39)	L30Q	probably damaging	Het
Edc3	T	C	9: 57,623,520 (GRCm39)	S152P	probably benign	Het
Gask1b	A	T	3: 79,848,647 (GRCm39)	R464S	probably damaging	Het
Gpr160	A	T	3: 30,950,171 (GRCm39)	D81V	probably damaging	Het
Intu	A	T	3: 40,608,138 (GRCm39)	D32V	probably damaging	Het
Itga5	T	C	15: 103,260,950 (GRCm39)	E512G	probably damaging	Het
Khnyn	T	C	14: 56,131,760 (GRCm39)	F561L	possibly damaging	Het
Kmt2e	T	A	5: 23,698,243 (GRCm39)	V645E	probably damaging	Het
Mcoln3	T	C	3: 145,836,909 (GRCm39)	F247S	probably damaging	Het
Nek9	G	A	12: 85,348,603 (GRCm39)	T977I	probably damaging	Het
Nphs1	A	G	7: 30,173,969 (GRCm39)	T1015A	probably damaging	Het
Ntmt2	A	G	1: 163,531,680 (GRCm39)	Y158H	possibly damaging	Het
Nudcd1	T	C	15: 44,284,158 (GRCm39)	Y76C	probably damaging	Het
Or2a54	C	A	6: 43,093,070 (GRCm39)	Y131*	probably null	Het
Or8b44	T	C	9: 38,410,112 (GRCm39)	I49T	probably benign	Het
Pgd	C	T	4: 149,245,209 (GRCm39)		probably null	Het
Prl7c1	A	G	13: 27,957,709 (GRCm39)	S244P	possibly damaging	Het
Rpap1	G	T	2: 119,607,377 (GRCm39)		probably null	Het
Rrp8	G	A	7: 105,383,325 (GRCm39)	R314*	probably null	Het
Smarca4	T	A	9: 21,590,445 (GRCm39)		probably null	Het
Stambpl1	A	G	19: 34,211,520 (GRCm39)		probably null	Het
Tmeff2	T	C	1: 51,220,985 (GRCm39)	V320A	probably damaging	Het
Top2b	A	G	14: 16,416,671 (GRCm38)	K83E	probably damaging	Het
Ttc39b	C	G	4: 83,148,730 (GRCm39)	V560L	probably benign	Het
Ttn	A	T	2: 76,672,153 (GRCm39)		probably benign	Het
Usp32	T	C	11: 84,913,107 (GRCm39)	I934V	probably benign	Het
Uxs1	T	C	1: 43,836,410 (GRCm39)	I122V	probably damaging	Het
Vmn1r168	A	G	7: 23,240,944 (GRCm39)	N267S	probably benign	Het
Vmn2r16	A	G	5: 109,488,119 (GRCm39)	N331D	probably benign	Het

Other mutations in Cyp2j9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00826:Cyp2j9	APN	4	96,474,167 (GRCm39)	missense	possibly damaging	0.94
IGL01287:Cyp2j9	APN	4	96,471,665 (GRCm39)	missense	probably benign	0.03
R0032:Cyp2j9	UTSW	4	96,457,043 (GRCm39)	missense	possibly damaging	0.72
R0032:Cyp2j9	UTSW	4	96,457,043 (GRCm39)	missense	possibly damaging	0.72
R0384:Cyp2j9	UTSW	4	96,474,122 (GRCm39)	missense	probably benign	0.06
R0525:Cyp2j9	UTSW	4	96,467,802 (GRCm39)	critical splice acceptor site	probably null
R1430:Cyp2j9	UTSW	4	96,472,201 (GRCm39)	splice site	probably benign
R1991:Cyp2j9	UTSW	4	96,460,201 (GRCm39)	missense	probably damaging	1.00
R2103:Cyp2j9	UTSW	4	96,460,201 (GRCm39)	missense	probably damaging	1.00
R2881:Cyp2j9	UTSW	4	96,462,249 (GRCm39)	missense	probably damaging	1.00
R4760:Cyp2j9	UTSW	4	96,457,028 (GRCm39)	missense	probably damaging	1.00
R4823:Cyp2j9	UTSW	4	96,456,972 (GRCm39)	missense	possibly damaging	0.79
R5782:Cyp2j9	UTSW	4	96,462,142 (GRCm39)	missense	probably benign	0.35
R5898:Cyp2j9	UTSW	4	96,465,951 (GRCm39)	missense	probably benign	0.44
R6259:Cyp2j9	UTSW	4	96,472,243 (GRCm39)	missense	probably benign	0.01
R6663:Cyp2j9	UTSW	4	96,467,679 (GRCm39)	missense	probably benign	0.01
R7719:Cyp2j9	UTSW	4	96,457,079 (GRCm39)	missense	probably benign	0.00
R7915:Cyp2j9	UTSW	4	96,479,621 (GRCm39)	start gained	probably benign
R8832:Cyp2j9	UTSW	4	96,474,121 (GRCm39)	missense	probably benign	0.00
R8856:Cyp2j9	UTSW	4	96,462,184 (GRCm39)	missense	probably damaging	0.99
R8976:Cyp2j9	UTSW	4	96,479,399 (GRCm39)	missense	probably benign	0.00
R9497:Cyp2j9	UTSW	4	96,460,211 (GRCm39)	nonsense	probably null
R9649:Cyp2j9	UTSW	4	96,460,193 (GRCm39)	missense	probably damaging	0.98
RF020:Cyp2j9	UTSW	4	96,465,889 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGATGACAGGTGGTTTATGG -3'
(R):5'- GAGGAAGATGCTTGCTTCCC -3'

Sequencing Primer
(F):5'- GGGAACTTTGCCAGGTTATAGAC -3'
(R):5'- TCCTCCCACACAGTCTTCACAG -3'

Posted On

2018-04-27