Mutagenetix > Incidental Mutations

Incidental Mutation 'R8417:Cyp3a59'

652991

Institutional Source

Beutler Lab

Gene Symbol

Cyp3a59

Ensembl Gene

ENSMUSG00000061292

Gene Name

cytochrome P450, family 3, subfamily a, polypeptide 59

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8417 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146079257-146113287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146090685 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 89 (I89F)

Ref Sequence

ENSEMBL: ENSMUSP00000049494 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035571
AA Change: I89F

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
AA Change: I89F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199212
AA Change: I89F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000142591
Gene: ENSMUSG00000061292
AA Change: I89F

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	C	9: 21,529,085		probably null	Het
Adamtsl1	G	A	4: 86,156,689	D98N	possibly damaging	Het
Adgrb3	T	C	1: 25,488,053	T601A	probably benign	Het
Ankrd33	C	A	15: 101,119,449	Q248K	probably benign	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Casp12	G	T	9: 5,352,263	C155F	probably benign	Het
Clpp	T	C	17: 56,990,661	V81A	probably benign	Het
Fam227b	C	A	2: 126,121,062	W178L	probably damaging	Het
Fcna	C	A	2: 25,624,851	R332L	probably damaging	Het
Gdf3	T	G	6: 122,606,607	H267P	probably damaging	Het
Gm4450	G	A	3: 98,456,415	T38I	probably benign	Het
Gm5592	A	G	7: 41,288,551	D419G	probably benign	Het
Gm6882	A	G	7: 21,427,295	V216A	probably damaging	Het
Gsdma3	A	G	11: 98,629,777	N78S	probably benign	Het
Hydin	T	C	8: 110,569,392	I3579T	probably benign	Het
Ighmbp2	T	C	19: 3,261,590	I942V	probably damaging	Het
Lamc1	A	G	1: 153,230,769	Y1266H	probably damaging	Het
Lgi3	T	C	14: 70,534,806	Y264H	probably benign	Het
Lmod2	G	A	6: 24,603,385	E120K	possibly damaging	Het
Mbl2	G	T	19: 30,239,484	C232F	probably damaging	Het
Morc1	T	C	16: 48,460,740	V214A	probably damaging	Het
Nlrp4b	T	A	7: 10,725,953	C827*	probably null	Het
Olfr1086	A	G	2: 86,676,805	F176S	probably damaging	Het
Olfr358	T	A	2: 37,004,646	T323S	probably benign	Het
Pbrm1	T	A	14: 31,027,462	H72Q	possibly damaging	Het
Plekhm2	T	C	4: 141,627,825	I944V	probably benign	Het
Prdm8	A	T	5: 98,184,531	D97V	probably damaging	Het
Preb	G	A	5: 30,960,117		probably benign	Het
Prkcd	T	C	14: 30,609,251	K56E	probably benign	Het
Slit3	A	T	11: 35,610,611	I391F	probably damaging	Het
Spata19	A	G	9: 27,397,970	S91G	probably benign	Het
Stag3	A	G	5: 138,308,588	T1134A	probably benign	Het
Tgfbr2	A	T	9: 116,110,129	M235K	probably benign	Het
Tmtc2	A	T	10: 105,413,236	I212N	probably damaging	Het
Tnfrsf26	C	T	7: 143,614,902	R133K	probably benign	Het
Trim43c	C	A	9: 88,843,138	Q238K	probably benign	Het
Vcan	T	C	13: 89,688,743	D2894G	probably benign	Het
Wisp3	T	A	10: 39,151,211	R342*	probably null	Het
Zeb2	C	T	2: 45,022,996	S105N	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
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
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'- CTAGCAGTTCATGTTATGGTGC -3'
(R):5'- AATGGTGGTGGCTCTTTACC -3'

Sequencing Primer
(F):5'- GTTATGGTGCTTAATACAACTGAGG -3'
(R):5'- GCCCACTGATCTTGATGTAGAAC -3'

Posted On

2020-10-20