Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01511:Cyp2j13'

89231

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2j13

Ensembl Gene

ENSMUSG00000028571

Gene Name

cytochrome P450, family 2, subfamily j, polypeptide 13

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL01511

Quality Score

Status

Chromosome

Chromosomal Location

96027534-96077546 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96077315 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 52 (F52L)

Ref Sequence

ENSEMBL: ENSMUSP00000102693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030305] [ENSMUST00000097973] [ENSMUST00000107078]

AlphaFold

Q3UNV4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030305
AA Change: F52L

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030305
Gene: ENSMUSG00000028571
AA Change: F52L

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:p450	44	499	6.7e-131	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097973
AA Change: F52L

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095587
Gene: ENSMUSG00000028571
AA Change: F52L

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:p450	44	404	8.9e-97	PFAM
low complexity region	411	420	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107078
AA Change: F52L

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102693
Gene: ENSMUSG00000028571
AA Change: F52L

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:p450	44	231	2.5e-39	PFAM
Pfam:p450	218	345	8.6e-41	PFAM
low complexity region	352	361	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120275

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,244,310	D216E	probably benign	Het
Abcc4	C	A	14: 118,599,341	L669F	probably benign	Het
Adam29	C	T	8: 55,871,421	G666D	probably damaging	Het
Adat2	T	G	10: 13,560,238	M109R	probably null	Het
Atf3	T	A	1: 191,171,496	T178S	probably benign	Het
Birc6	T	A	17: 74,627,003	Y2522*	probably null	Het
Ccr8	G	A	9: 120,094,625	G269R	probably damaging	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Chrna4	C	T	2: 181,028,668	V432I	probably benign	Het
Commd8	A	G	5: 72,165,379	V65A	probably benign	Het
Desi1	T	A	15: 82,002,588	K45*	probably null	Het
Dmbt1	T	A	7: 131,116,728	M1552K	possibly damaging	Het
Dna2	G	A	10: 62,955,314	M197I	possibly damaging	Het
Dnah7a	A	C	1: 53,419,595	L3795V	probably damaging	Het
Fam221b	T	C	4: 43,660,135		probably null	Het
Fbxw18	A	T	9: 109,688,821	S366T	possibly damaging	Het
Fzd8	A	G	18: 9,213,293	Y125C	unknown	Het
Gcsam	T	C	16: 45,615,952	Y11H	probably damaging	Het
Gucy2f	G	T	X: 142,161,734	D410E	probably damaging	Het
Hdac3	C	T	18: 37,952,595	A53T	probably benign	Het
Lamp2	A	G	X: 38,431,875	L244P	probably damaging	Het
Lrrk1	A	T	7: 66,265,450	F1630Y	possibly damaging	Het
M1ap	C	A	6: 83,028,412	D434E	probably benign	Het
Mcmbp	A	G	7: 128,707,164	Y378H	probably damaging	Het
Mvb12a	T	A	8: 71,545,302	V120E	probably damaging	Het
Nbeal2	A	C	9: 110,629,234	W2063G	probably damaging	Het
Neto1	A	C	18: 86,395,908	H9P	possibly damaging	Het
Nmu	C	T	5: 76,340,821	V126M	probably damaging	Het
Odf2	T	C	2: 29,914,309		probably benign	Het
Olfr1387	A	G	11: 49,460,216	E179G	probably damaging	Het
Pdzrn3	T	C	6: 101,153,256	H533R	possibly damaging	Het
Pikfyve	G	T	1: 65,258,869	E1586*	probably null	Het
Plcb3	C	A	19: 6,955,843	R970L	probably damaging	Het
Plxna3	A	G	X: 74,335,308	E686G	probably damaging	Het
Polrmt	T	A	10: 79,740,151	Y586F	probably benign	Het
Ppt1	T	A	4: 122,854,425	F225I	probably damaging	Het
Prcc	T	G	3: 87,872,241	D162A	probably damaging	Het
Ripor1	T	C	8: 105,619,930		probably benign	Het
Rnaseh1	A	G	12: 28,659,009	H263R	probably damaging	Het
Rnf19b	T	A	4: 129,080,418	S490R	probably damaging	Het
Slc15a2	T	A	16: 36,784,726	T23S	probably damaging	Het
Slc17a2	T	C	13: 23,819,138		probably null	Het
Slc35f4	T	C	14: 49,298,877	M434V	probably benign	Het
Slc52a3	C	T	2: 152,004,644	T175I	probably benign	Het
Slc5a2	C	T	7: 128,270,622	T409M	probably benign	Het
Tbc1d24	A	G	17: 24,181,918	S108P	probably benign	Het
Thnsl2	T	G	6: 71,139,793	Q125P	probably benign	Het
Ttc13	T	C	8: 124,676,371	D672G	probably damaging	Het
Ttn	G	T	2: 76,753,745	H14013N	possibly damaging	Het
Unc5a	T	C	13: 55,004,816	F792L	probably damaging	Het
Vac14	T	C	8: 110,712,798	V669A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,329	M158L	probably benign	Het
Vmn1r220	A	T	13: 23,184,214	V104D	probably damaging	Het
Wdr78	T	C	4: 103,048,361	D741G	possibly damaging	Het
Zfp738	A	T	13: 67,683,401		probably null	Het
Zscan5b	A	C	7: 6,231,422	H149P	probably benign	Het

Other mutations in Cyp2j13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Cyp2j13	APN	4	96062038	missense	probably damaging	1.00
IGL01540:Cyp2j13	APN	4	96068722	splice site	probably benign
IGL01923:Cyp2j13	APN	4	96062057	missense	probably benign	0.00
IGL03124:Cyp2j13	APN	4	96061922	missense	possibly damaging	0.78
IGL03389:Cyp2j13	APN	4	96068321	missense	probably damaging	1.00
R0671:Cyp2j13	UTSW	4	96071695	missense	probably damaging	0.97
R1351:Cyp2j13	UTSW	4	96056918	missense	probably benign	0.00
R1510:Cyp2j13	UTSW	4	96061972	missense	possibly damaging	0.48
R1708:Cyp2j13	UTSW	4	96062067	missense	probably damaging	0.99
R2327:Cyp2j13	UTSW	4	96059107	missense	possibly damaging	0.50
R3834:Cyp2j13	UTSW	4	96056557	critical splice donor site	probably null
R4643:Cyp2j13	UTSW	4	96056924	missense	possibly damaging	0.62
R4867:Cyp2j13	UTSW	4	96058998	missense	possibly damaging	0.68
R4900:Cyp2j13	UTSW	4	96059043	missense	probably damaging	1.00
R5175:Cyp2j13	UTSW	4	96068215	missense	possibly damaging	0.55
R5291:Cyp2j13	UTSW	4	96068329	missense	probably damaging	1.00
R5770:Cyp2j13	UTSW	4	96077432	missense	probably benign	0.23
R5837:Cyp2j13	UTSW	4	96071682	missense	probably damaging	0.98
R5912:Cyp2j13	UTSW	4	96056842	missense	probably damaging	1.00
R6283:Cyp2j13	UTSW	4	96056837	missense	possibly damaging	0.89
R6362:Cyp2j13	UTSW	4	96071695	missense	probably damaging	0.97
R6627:Cyp2j13	UTSW	4	96059106	missense	probably damaging	0.96
R7001:Cyp2j13	UTSW	4	96056875	missense	probably damaging	1.00
R7356:Cyp2j13	UTSW	4	96077418	missense	probably benign	0.23
R7620:Cyp2j13	UTSW	4	96056662	missense	probably benign	0.25
R8717:Cyp2j13	UTSW	4	96045540	missense	probably benign	0.06
R8810:Cyp2j13	UTSW	4	96056916	missense	probably benign	0.30
R8850:Cyp2j13	UTSW	4	96068191	missense	probably benign	0.09
R8981:Cyp2j13	UTSW	4	96077290	missense	possibly damaging	0.87
R9359:Cyp2j13	UTSW	4	96061933	missense	probably damaging	1.00
R9595:Cyp2j13	UTSW	4	96045560	nonsense	probably null

Posted On

2013-12-03