Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01533:Cyp2a4'

89828

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: 0.082) question?

Stock #

IGL01533

Quality Score

Status

Chromosome

Chromosomal Location

26307169-26315088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26308544 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 125 (K125N)

Ref Sequence

ENSEMBL: ENSMUSP00000096254 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000098657
AA Change: K125N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: K125N

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	A	18: 67,405,418	E757*	probably null	Het
Arhgap15	T	C	2: 44,243,153	V357A	probably damaging	Het
Asb13	T	C	13: 3,642,164	V48A	probably benign	Het
Bbs7	T	C	3: 36,610,235	R74G	possibly damaging	Het
Capn11	T	C	17: 45,632,904	H568R	probably benign	Het
Cbx5	T	C	15: 103,205,634	E61G	probably damaging	Het
Ccdc158	T	C	5: 92,609,956		probably null	Het
Col14a1	C	A	15: 55,420,840	N832K	unknown	Het
Dhx16	T	C	17: 35,882,047	L215P	probably damaging	Het
Dtx4	T	C	19: 12,478,215	M480V	possibly damaging	Het
Edaradd	A	G	13: 12,478,582		probably benign	Het
Galnt13	T	A	2: 54,880,132	M312K	probably damaging	Het
Gcdh	T	A	8: 84,889,362	R337W	probably damaging	Het
Gm28557	A	T	13: 67,071,332	C109*	probably null	Het
Gpr22	C	T	12: 31,708,710		probably benign	Het
Gria4	T	G	9: 4,502,395	L379F	probably damaging	Het
Gxylt2	T	C	6: 100,783,137	L211P	probably damaging	Het
Igsf10	T	A	3: 59,319,230	I2341F	probably damaging	Het
Macf1	T	C	4: 123,473,873	D2365G	probably damaging	Het
Morc2b	A	G	17: 33,135,721		probably benign	Het
Ncoa3	T	C	2: 166,055,025	S579P	probably benign	Het
Nlgn1	T	C	3: 25,436,363	N400S	possibly damaging	Het
Olfr1141	C	A	2: 87,753,068	R308S	probably benign	Het
Olfr146	C	T	9: 39,018,801	A247T	probably damaging	Het
Pi4ka	A	G	16: 17,308,201	S1102P	probably benign	Het
Polr1e	A	G	4: 45,019,328	Y59C	probably damaging	Het
Prex2	C	T	1: 11,186,741	Q1226*	probably null	Het
Rab12	A	T	17: 66,497,435	I176K	probably damaging	Het
Ryr2	A	T	13: 11,721,790	N2250K	probably damaging	Het
Sbf1	T	C	15: 89,288,716	T1865A	probably damaging	Het
Sema6b	G	A	17: 56,129,499		probably benign	Het
Smarcb1	C	T	10: 75,916,768		probably null	Het
Sos1	A	G	17: 80,415,082	L845S	probably damaging	Het
Stat4	T	A	1: 52,098,419	N456K	probably damaging	Het
Tex264	A	G	9: 106,673,599	I133T	probably benign	Het
Thoc1	T	C	18: 9,962,376	V87A	probably benign	Het
Tmem131	C	T	1: 36,818,722	D778N	probably damaging	Het
Tspan14	A	G	14: 40,916,819	I88T	probably benign	Het
Ttn	A	G	2: 76,951,941	S984P	probably damaging	Het
Ttn	C	A	2: 76,732,574	V28679L	possibly damaging	Het
Vangl1	T	C	3: 102,163,351	E423G	possibly damaging	Het

Other mutations in Cyp2a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01609:Cyp2a4	APN	7	26308663	critical splice donor site	probably null
IGL01959:Cyp2a4	APN	7	26307708	missense	probably damaging	1.00
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
R8750:Cyp2a4	UTSW	7	26312784	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

2013-12-03