Mutagenetix > Incidental Mutations

Incidental Mutation 'R1263:Cyp3a59'

151652

Institutional Source

Beutler Lab

Gene Symbol

Cyp3a59

Ensembl Gene

ENSMUSG00000061292

Gene Name

cytochrome P450, family 3, subfamily a, polypeptide 59

Synonyms

MMRRC Submission

039330-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146079257-146113287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 146104711 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 355 (Y355S)

Ref Sequence

ENSEMBL: ENSMUSP00000049494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035571] [ENSMUST00000199212]

Predicted Effect

probably damaging
Transcript: ENSMUST00000035571
AA Change: Y355S

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

SMART Domains

Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
AA Change: Y355S

Domain	Start	End	E-Value	Type
Pfam:p450	38	493	5.3e-128	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199212

SMART Domains

Protein: ENSMUSP00000142591
Gene: ENSMUSG00000061292

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:p450	38	148	3.3e-20	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,620,278	Y207*	probably null	Het
Abca8b	A	C	11: 109,941,607	H1231Q	possibly damaging	Het
Acbd4	T	A	11: 103,103,851		probably null	Het
Atp13a4	T	A	16: 29,471,953	Y226F	possibly damaging	Het
Brd3	A	C	2: 27,462,522	F132C	probably damaging	Het
Btaf1	A	T	19: 36,956,524	N184I	probably benign	Het
Ccdc180	A	G	4: 45,903,887	E351G	possibly damaging	Het
Ccdc185	A	T	1: 182,747,353	Y590*	probably null	Het
Chil1	G	A	1: 134,189,242	E315K	probably benign	Het
Col6a6	T	A	9: 105,709,489	M1778L	probably benign	Het
Cyp4a31	A	G	4: 115,574,711	T396A	probably benign	Het
Dnah6	A	T	6: 73,144,965	I1373N	probably damaging	Het
Dopey2	C	A	16: 93,777,386	H1598N	probably benign	Het
Erich4	T	A	7: 25,615,134	K118M	probably damaging	Het
Gkap1	A	T	13: 58,255,773	V179E	probably benign	Het
Gpr107	T	G	2: 31,178,255	I243S	possibly damaging	Het
Hs3st6	A	G	17: 24,758,530	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,479,378	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,676,966	H266Q	probably benign	Het
Krt71	C	T	15: 101,735,466	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,682,968	T423A	probably benign	Het
Mical3	T	C	6: 120,952,469	E1812G	probably damaging	Het
Nlrp1a	A	G	11: 71,097,122	I1174T	probably benign	Het
Npas2	C	A	1: 39,334,768	Q450K	possibly damaging	Het
Nrp1	T	A	8: 128,468,389	I442N	probably damaging	Het
Olfr1385	A	T	11: 49,495,021	M163L	probably benign	Het
Olfr338	T	A	2: 36,376,994	S73T	probably damaging	Het
Palld	TGCGTAGCG	TGCG	8: 61,513,457		probably null	Het
Pih1d3	A	T	1: 31,223,215	I93F	probably damaging	Het
Pold3	T	A	7: 100,119,683	Q36L	possibly damaging	Het
Polg	T	C	7: 79,459,786	T428A	probably benign	Het
Rfx7	T	A	9: 72,577,047	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,112,149	M1R	probably null	Het
Scn10a	T	A	9: 119,617,733	T1410S	probably damaging	Het
Serpinb13	T	A	1: 107,000,736	V362E	probably damaging	Het
Setdb1	T	C	3: 95,327,611	N927S	probably damaging	Het
Sft2d1	A	G	17: 8,320,638	K91R	probably benign	Het
Shprh	A	G	10: 11,159,530	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Styxl1	G	T	5: 135,753,883	S117R	probably damaging	Het
Synj2	T	C	17: 6,019,359	F150L	probably damaging	Het
Tep1	C	A	14: 50,845,513	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,630,655	L413Q	probably damaging	Het
Tmc5	G	A	7: 118,666,870	R789Q	probably damaging	Het
Tonsl	T	A	15: 76,622,562	I115F	possibly damaging	Het
Trim38	A	G	13: 23,791,134	Y352C	probably damaging	Het
Txnl4a	T	A	18: 80,207,321	V44D	probably benign	Het
Vars2	A	G	17: 35,661,609	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,208,322	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,050,708	I469N	probably benign	Het
Vmn2r53	T	C	7: 12,581,606	Y762C	probably benign	Het
Vps13d	T	A	4: 145,170,348	Q334L	probably benign	Het
Zfp277	A	T	12: 40,364,165	I227N	probably damaging	Het

Other mutations in Cyp3a59

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Cyp3a59	APN	5	146102861	missense	probably damaging	0.99
IGL01129:Cyp3a59	APN	5	146098279	missense	probably benign	0.06
IGL01628:Cyp3a59	APN	5	146099819	missense	possibly damaging	0.94
IGL01982:Cyp3a59	APN	5	146104735	missense	probably benign	0.00
IGL02094:Cyp3a59	APN	5	146104821	missense	probably benign	0.05
IGL02140:Cyp3a59	APN	5	146102880	missense	probably damaging	1.00
IGL02350:Cyp3a59	APN	5	146079342	missense	probably damaging	1.00
IGL02357:Cyp3a59	APN	5	146079342	missense	probably damaging	1.00
IGL02445:Cyp3a59	APN	5	146096653	missense	probably benign	0.00
IGL02681:Cyp3a59	APN	5	146090746	splice site	probably benign
IGL02870:Cyp3a59	APN	5	146098184	missense	probably benign
IGL03023:Cyp3a59	APN	5	146085850	missense	probably benign	0.02
PIT4802001:Cyp3a59	UTSW	5	146102801	missense	probably benign	0.00
R0220:Cyp3a59	UTSW	5	146098270	missense	probably benign	0.02
R0532:Cyp3a59	UTSW	5	146096653	nonsense	probably null
R1084:Cyp3a59	UTSW	5	146096674	missense	probably benign
R1573:Cyp3a59	UTSW	5	146102874	missense	probably damaging	1.00
R1747:Cyp3a59	UTSW	5	146104758	missense	probably benign
R1759:Cyp3a59	UTSW	5	146098250	missense	probably benign	0.10
R1812:Cyp3a59	UTSW	5	146102811	missense	probably damaging	1.00
R1937:Cyp3a59	UTSW	5	146094377	missense	possibly damaging	0.80
R2026:Cyp3a59	UTSW	5	146096288	missense	probably damaging	1.00
R2060:Cyp3a59	UTSW	5	146104714	missense	probably damaging	1.00
R2355:Cyp3a59	UTSW	5	146099812	missense	probably benign	0.09
R3721:Cyp3a59	UTSW	5	146096597	missense	probably damaging	0.96
R4013:Cyp3a59	UTSW	5	146079383	missense	probably benign	0.01
R4421:Cyp3a59	UTSW	5	146104903	splice site	probably null
R4432:Cyp3a59	UTSW	5	146104786	missense	probably benign	0.04
R4633:Cyp3a59	UTSW	5	146094438	missense	probably damaging	1.00
R4843:Cyp3a59	UTSW	5	146096261	missense	possibly damaging	0.61
R4886:Cyp3a59	UTSW	5	146087387	missense	probably damaging	1.00
R5236:Cyp3a59	UTSW	5	146102825	missense	probably benign	0.20
R5386:Cyp3a59	UTSW	5	146085768	missense	probably benign	0.01
R5627:Cyp3a59	UTSW	5	146112854	missense	probably benign	0.00
R5792:Cyp3a59	UTSW	5	146099851	missense	possibly damaging	0.92
R5935:Cyp3a59	UTSW	5	146090645	nonsense	probably null
R6531:Cyp3a59	UTSW	5	146098217	missense	probably benign	0.00
R6790:Cyp3a59	UTSW	5	146096333	missense	probably benign
R7108:Cyp3a59	UTSW	5	146096333	missense	probably benign
R7222:Cyp3a59	UTSW	5	146096575	critical splice acceptor site	probably null
R7447:Cyp3a59	UTSW	5	146087405	missense	probably benign	0.25
R7457:Cyp3a59	UTSW	5	146104750	missense	probably damaging	1.00
R7723:Cyp3a59	UTSW	5	146079344	missense	probably benign	0.06
R8171:Cyp3a59	UTSW	5	146085774	missense	probably damaging	1.00
R8417:Cyp3a59	UTSW	5	146090685	missense	possibly damaging	0.49
R8474:Cyp3a59	UTSW	5	146104677	missense	probably benign	0.01
Z1088:Cyp3a59	UTSW	5	146098222	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TGCATGGGATTAAAGCTGACTCAGG -3'
(R):5'- AGTACTCAGGGTTTCGGTGAAGAGG -3'

Sequencing Primer
(F):5'- tctctctctcctctctcttctc -3'
(R):5'- TTCGGTGAAGAGGATAGATTGG -3'

Posted On

2014-01-29