Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02094:Cyp3a59'

279529

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp3a59

Ensembl Gene

ENSMUSG00000061292

Gene Name

cytochrome P450, family 3, subfamily a, polypeptide 59

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02094

Quality Score

Status

Chromosome

Chromosomal Location

146079257-146113287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146104821 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 392 (T392S)

Ref Sequence

ENSEMBL: ENSMUSP00000049494 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000035571
AA Change: T392S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
AA Change: T392S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	C	8: 55,871,445	N658S	possibly damaging	Het
Adcy10	T	C	1: 165,570,620	Y1429H	probably damaging	Het
Aebp1	G	A	11: 5,868,357	M98I	probably benign	Het
Arl3	T	C	19: 46,558,341	D15G	probably benign	Het
Casp2	T	A	6: 42,280,359	I414N	probably damaging	Het
Ceacam1	T	C	7: 25,474,543	D229G	probably damaging	Het
Cog7	G	T	7: 121,963,247	A234E	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ebf2	G	A	14: 67,235,240	V36M	possibly damaging	Het
Fbxw15	A	C	9: 109,558,240	V229G	possibly damaging	Het
Got1l1	A	G	8: 27,199,845	V171A	probably benign	Het
Itgax	A	G	7: 128,131,473	Y121C	probably damaging	Het
Kcng4	C	A	8: 119,633,221	A139S	probably damaging	Het
Kcnj9	G	T	1: 172,325,708	T283K	probably damaging	Het
Mgl2	T	A	11: 70,137,097	I377K	possibly damaging	Het
Myo15	T	C	11: 60,510,647		probably benign	Het
Nod1	A	T	6: 54,939,390		probably null	Het
Nr1h5	A	T	3: 102,952,196	C182*	probably null	Het
Nup210l	G	T	3: 90,180,213		probably null	Het
Ptbp2	G	A	3: 119,752,940		probably benign	Het
Ptpn13	T	G	5: 103,594,617	F2401V	probably damaging	Het
Rbbp6	T	C	7: 122,997,262	S676P	probably damaging	Het
Recql4	T	A	15: 76,709,517	Q131L	probably benign	Het
Sbno2	G	A	10: 80,057,645	P1274L	probably benign	Het
Sec24c	T	C	14: 20,688,402	V341A	probably damaging	Het
Smc1b	A	T	15: 85,097,891		probably benign	Het
Sptbn1	T	C	11: 30,100,659	H2310R	probably benign	Het
Tas2r109	T	A	6: 132,980,239	I243F	possibly damaging	Het
Trpc1	A	C	9: 95,743,281	D97E	probably damaging	Het
Trpm2	G	A	10: 77,942,996	Q379*	probably null	Het
Ttn	A	G	2: 76,818,823		probably benign	Het
Vmn2r74	A	T	7: 85,961,461	F8I	probably benign	Het
Zfp36	C	T	7: 28,377,763	S240N	probably benign	Het
Zfp65	A	G	13: 67,708,185	I325T	possibly 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
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
R1263:Cyp3a59	UTSW	5	146104711	missense	probably damaging	1.00
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

Posted On

2015-04-16