Mutagenetix > Incidental Mutations

Incidental Mutation 'R0393:Cyp2a4'

31793

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a4

Ensembl Gene

ENSMUSG00000074254

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 4

Synonyms

D7Ucla4, Cyp15a1, testosterone 15alpha-hydroxylase

MMRRC Submission

038599-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R0393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26307169-26315088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26312868 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 359 (I359F)

Ref Sequence

ENSEMBL: ENSMUSP00000096254 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098657
AA Change: I359F

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: I359F

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

Meta Mutation Damage Score

0.7483

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	T	6: 142,645,878		probably benign	Het
Akr1b7	T	G	6: 34,415,400	Y49*	probably null	Het
Ankrd10	G	T	8: 11,635,482	R46S	possibly damaging	Het
Atp13a5	A	G	16: 29,266,929		probably benign	Het
Baz1a	A	G	12: 54,918,436		probably null	Het
Bicd2	C	T	13: 49,379,870	T644M	probably damaging	Het
Ccr9	A	T	9: 123,779,970	H239L	probably benign	Het
Cd180	A	T	13: 102,705,900	N485Y	probably damaging	Het
Ces1d	T	A	8: 93,192,772	S131C	probably damaging	Het
Cnpy2	T	A	10: 128,326,207	S116R	probably benign	Het
Crym	T	C	7: 120,189,749	K285R	probably benign	Het
Cyp2b10	T	A	7: 25,914,934		probably benign	Het
Dcpp3	A	T	17: 23,917,951		probably benign	Het
Dnah8	T	A	17: 30,708,390	I1340K	probably benign	Het
Fbln1	T	C	15: 85,227,076	C144R	probably damaging	Het
Gm1553	T	C	10: 82,492,176	R66G	unknown	Het
Il10rb	G	A	16: 91,412,010	V103I	probably benign	Het
Irak1bp1	T	A	9: 82,846,561	W182R	probably benign	Het
Kcna3	T	C	3: 107,036,999	S193P	probably damaging	Het
Kif14	C	T	1: 136,482,418	H628Y	probably damaging	Het
Krt31	A	G	11: 100,050,253	L77P	probably damaging	Het
Krt36	C	T	11: 100,104,114	A211T	possibly damaging	Het
L3mbtl2	C	T	15: 81,668,741	A125V	probably damaging	Het
Lmo7	A	G	14: 101,900,456	T743A	probably benign	Het
Lyst	C	T	13: 13,647,079	T1346M	probably benign	Het
Mapkbp1	T	A	2: 120,012,903		probably null	Het
Mif	T	C	10: 75,859,804	D55G	probably benign	Het
Mlh3	G	T	12: 85,267,587	C608*	probably null	Het
Mlip	A	T	9: 77,239,577	C85S	probably benign	Het
Mug1	T	C	6: 121,849,850	S211P	possibly damaging	Het
Mybl2	T	A	2: 163,061,608		probably benign	Het
Myh8	C	T	11: 67,306,017		probably benign	Het
Nanos1	A	G	19: 60,756,930	Y222C	probably damaging	Het
Olfr1113	A	T	2: 87,213,693	Y267F	probably benign	Het
Olfr1155	T	C	2: 87,943,565	D21G	possibly damaging	Het
Olfr138	G	T	17: 38,274,883	M37I	probably benign	Het
Papolb	A	G	5: 142,529,456	V144A	probably damaging	Het
Pctp	A	G	11: 89,986,119	S185P	probably benign	Het
Plod1	A	T	4: 147,918,841	L509Q	probably null	Het
Ppp1r13b	C	A	12: 111,835,688	M290I	probably benign	Het
Ralb	G	C	1: 119,478,126		probably null	Het
Slc4a8	T	A	15: 100,774,638	D18E	probably damaging	Het
Speg	A	C	1: 75,423,924	H2576P	possibly damaging	Het
Spock1	T	C	13: 57,440,536	D241G	probably damaging	Het
Tcam1	T	A	11: 106,284,214	V165E	probably benign	Het
Thbs1	T	A	2: 118,112,991	V30E	possibly damaging	Het
Tll2	A	G	19: 41,088,826	Y834H	possibly damaging	Het
Tmem5	T	C	10: 122,095,936		probably benign	Het
Trpm6	G	A	19: 18,778,644	D84N	probably damaging	Het
Ubr1	T	A	2: 120,906,946	Q1039L	probably damaging	Het
Ubr4	A	G	4: 139,410,860		probably benign	Het
Vmn1r74	T	C	7: 11,847,315	Y181H	possibly damaging	Het
Vmn2r13	T	C	5: 109,156,529	T679A	probably benign	Het
Vmn2r91	A	T	17: 18,105,450	Y110F	probably damaging	Het
Zbtb40	A	C	4: 137,018,531	S64A	probably benign	Het
Zfp184	T	A	13: 21,947,082		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGTGCAATTCACACAGATCCCAAG -3'
(R):5'- TGGCAGAGAAAGCCTGTCACTGAG -3'

Sequencing Primer
(F):5'- AATGCCATACAATGTTCCCTGG -3'
(R):5'- TGTCACTGAGGCACCAAG -3'

Posted On

2013-04-24