Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01959:Cyp2a4'

182310

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2a4

Ensembl Gene

ENSMUSG00000074254

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 4

Synonyms

D7Ucla4, Cyp15a1, testosterone 15alpha-hydroxylase

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL01959

Quality Score

Status

Chromosome

Chromosomal Location

26307169-26315088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26307708 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 80 (V80E)

Ref Sequence

ENSEMBL: ENSMUSP00000096254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098657]

Predicted Effect

probably damaging
Transcript: ENSMUST00000098657
AA Change: V80E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: V80E

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
Pfam:p450	34	491	8.9e-151	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206226

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	T	C	11: 51,091,818		noncoding transcript	Het
Aip	A	G	19: 4,121,397	I13T	probably damaging	Het
Cacna2d1	C	T	5: 16,212,897	P140S	probably benign	Het
Cald1	A	G	6: 34,753,468	D40G	probably damaging	Het
Cep250	T	A	2: 155,983,359	V1052E	possibly damaging	Het
Chd1	A	G	17: 15,742,173	N731D	probably damaging	Het
Chml	C	T	1: 175,687,600	V252I	probably benign	Het
Cog8	T	C	8: 107,056,378	Y93C	probably damaging	Het
Creld1	G	A	6: 113,492,833	A399T	probably damaging	Het
Cyp2c37	T	A	19: 39,995,833	L255*	probably null	Het
Cyp2d12	C	A	15: 82,555,344		probably benign	Het
Dimt1	A	G	13: 106,953,455	I229V	probably benign	Het
Dsc1	G	A	18: 20,097,225	T341I	probably damaging	Het
Ercc3	T	A	18: 32,257,358	F567I	probably damaging	Het
Espl1	C	A	15: 102,305,662		probably benign	Het
Fcrls	T	C	3: 87,259,632	D18G	probably damaging	Het
Fnip1	T	A	11: 54,490,912	S296R	possibly damaging	Het
Fzd5	C	A	1: 64,735,946	A219S	possibly damaging	Het
Gbp7	A	G	3: 142,541,347		probably benign	Het
Gm3298	T	C	14: 5,018,731	L162S	probably damaging	Het
Hspa1l	A	G	17: 34,977,135	E50G	probably damaging	Het
Ipo9	T	C	1: 135,420,355		probably null	Het
Kazn	A	G	4: 142,150,884	L185P	probably damaging	Het
Kcnh8	T	C	17: 52,834,607	S293P	probably damaging	Het
Lrp1b	T	C	2: 41,312,527	T1191A	probably damaging	Het
Mnat1	A	G	12: 73,181,931		probably benign	Het
Msx2	C	T	13: 53,468,602		probably benign	Het
Ndufs2	T	G	1: 171,237,229	I317L	probably benign	Het
Nms	T	C	1: 38,941,925		probably benign	Het
Oosp3	T	A	19: 11,700,922	F87L	probably benign	Het
Pask	A	G	1: 93,334,607	V177A	probably benign	Het
Poldip2	G	T	11: 78,512,307		probably benign	Het
Prr14l	A	T	5: 32,830,205	S649T	possibly damaging	Het
Slc6a18	T	A	13: 73,677,865	N22I	probably damaging	Het
Smco2	T	A	6: 146,861,710	S228T	probably benign	Het
Speer4a	G	A	5: 26,035,904	Q197*	probably null	Het
Speg	A	G	1: 75,391,090	K641R	probably damaging	Het
Strip2	G	A	6: 29,928,554	V286M	probably damaging	Het
Tnfrsf22	C	T	7: 143,643,275		probably null	Het
Tnpo3	A	G	6: 29,589,020		probably benign	Het
Top2b	T	A	14: 16,422,695	N1377K	probably benign	Het
Trmt1	T	A	8: 84,691,376		probably null	Het
Trpm1	A	G	7: 64,208,975	M266V	possibly damaging	Het
Vmn1r199	A	G	13: 22,383,120	T195A	probably benign	Het
Vmn2r10	A	G	5: 108,997,705	V512A	probably benign	Het
Zfp777	A	G	6: 48,044,341	F116L	probably benign	Het
Zp3r	T	A	1: 130,591,451	K253*	probably null	Het

Other mutations in Cyp2a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01533:Cyp2a4	APN	7	26308544	missense	probably damaging	1.00
IGL01609:Cyp2a4	APN	7	26308663	critical splice donor site	probably null
IGL02282:Cyp2a4	APN	7	26309047	missense	probably benign	0.01
IGL03053:Cyp2a4	APN	7	26313550	splice site	probably benign
IGL03168:Cyp2a4	APN	7	26313550	splice site	probably benign
R0393:Cyp2a4	UTSW	7	26312868	missense	possibly damaging	0.67
R0453:Cyp2a4	UTSW	7	26312833	missense	probably benign	0.22
R0825:Cyp2a4	UTSW	7	26312916	missense	probably benign	0.07
R0948:Cyp2a4	UTSW	7	26310788	missense	probably damaging	1.00
R1215:Cyp2a4	UTSW	7	26314801	missense	possibly damaging	0.75
R1222:Cyp2a4	UTSW	7	26308588	missense	possibly damaging	0.70
R1374:Cyp2a4	UTSW	7	26312923	missense	probably damaging	0.99
R1473:Cyp2a4	UTSW	7	26314763	missense	probably benign
R1580:Cyp2a4	UTSW	7	26307651	missense	possibly damaging	0.91
R1768:Cyp2a4	UTSW	7	26312772	missense	possibly damaging	0.94
R1832:Cyp2a4	UTSW	7	26312210	missense	probably damaging	0.99
R1911:Cyp2a4	UTSW	7	26308974	missense	possibly damaging	0.85
R2080:Cyp2a4	UTSW	7	26308537	missense	possibly damaging	0.96
R2086:Cyp2a4	UTSW	7	26312308	missense	probably damaging	1.00
R2259:Cyp2a4	UTSW	7	26309035	missense	probably damaging	0.99
R2877:Cyp2a4	UTSW	7	26312187	missense	possibly damaging	0.95
R2878:Cyp2a4	UTSW	7	26312187	missense	possibly damaging	0.95
R3732:Cyp2a4	UTSW	7	26312827	missense	probably damaging	1.00
R3732:Cyp2a4	UTSW	7	26312827	missense	probably damaging	1.00
R3733:Cyp2a4	UTSW	7	26312827	missense	probably damaging	1.00
R3734:Cyp2a4	UTSW	7	26312827	missense	probably damaging	1.00
R3741:Cyp2a4	UTSW	7	26308544	missense	probably damaging	1.00
R4079:Cyp2a4	UTSW	7	26307366	missense	probably benign	0.22
R4297:Cyp2a4	UTSW	7	26307368	missense	probably damaging	0.96
R4785:Cyp2a4	UTSW	7	26312875	missense	probably damaging	1.00
R4998:Cyp2a4	UTSW	7	26307361	missense	probably damaging	1.00
R5297:Cyp2a4	UTSW	7	26312204	missense	probably benign	0.07
R5893:Cyp2a4	UTSW	7	26308928	missense	probably damaging	1.00
R5942:Cyp2a4	UTSW	7	26310704	critical splice acceptor site	probably null
R6262:Cyp2a4	UTSW	7	26312230	missense	probably damaging	0.99
R6612:Cyp2a4	UTSW	7	26308647	missense	probably benign	0.00
R6722:Cyp2a4	UTSW	7	26313558	missense	probably benign	0.04
R7064:Cyp2a4	UTSW	7	26312307	missense	probably benign	0.02
R7419:Cyp2a4	UTSW	7	26314763	missense	probably benign	0.00
R7562:Cyp2a4	UTSW	7	26312896	missense	possibly damaging	0.88
R8231:Cyp2a4	UTSW	7	26312937	missense	probably benign	0.00
Z1176:Cyp2a4	UTSW	7	26307323	nonsense	probably null
Z1176:Cyp2a4	UTSW	7	26310841	missense	probably damaging	1.00

Posted On

2014-05-07