Mutagenetix > Incidental Mutations

Incidental Mutation 'R6531:Cyp3a59'

522343

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 #

R6531 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146079257-146113287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146098217 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 235 (M235K)

Ref Sequence

ENSEMBL: ENSMUSP00000049494 (fasta)

Gene Model

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

AlphaFold

D3Z2W7

Predicted Effect

probably benign
Transcript: ENSMUST00000035571
AA Change: M235K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
AA Change: M235K

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: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.6%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,949,999	E880G	possibly damaging	Het
Acsbg2	T	A	17: 56,846,617	I529F	probably damaging	Het
Ahcyl2	T	G	6: 29,886,162	M359R	probably benign	Het
Aldh5a1	G	T	13: 24,918,564	D305E	probably benign	Het
Catsper2	C	G	2: 121,399,780	V358L	possibly damaging	Het
Cd200r4	C	T	16: 44,833,505	Q222*	probably null	Het
Col4a2	T	A	8: 11,408,135	D270E	probably benign	Het
Cux1	T	C	5: 136,275,119	D1401G	probably benign	Het
Dock3	T	C	9: 106,967,216	D895G	probably benign	Het
Dusp27	A	T	1: 166,110,046		probably null	Het
Dync1h1	T	C	12: 110,617,920	F586L	probably damaging	Het
Elmo1	G	T	13: 20,572,446	R568L	possibly damaging	Het
Epb41	T	C	4: 131,957,636	T711A	probably benign	Het
Grm7	T	A	6: 111,358,425	M599K	probably benign	Het
Hivep3	A	T	4: 120,122,876	K1704*	probably null	Het
Ighv1-62-3	C	A	12: 115,461,006	C115F	probably damaging	Het
Krt78	A	G	15: 101,952,273	Y200H	probably benign	Het
Lamb2	A	T	9: 108,483,726	H549L	possibly damaging	Het
Mroh3	A	G	1: 136,184,353	I759T	probably benign	Het
Ncbp2	CGTCTGGATG	CG	16: 31,956,343		probably null	Het
Nol6	G	T	4: 41,118,154	P828T	probably benign	Het
Olfr1030	A	G	2: 85,984,307	I156V	probably benign	Het
Olfr1132	A	G	2: 87,635,529	Y73H	probably damaging	Het
Olfr1264	A	G	2: 90,021,457	V203A	probably benign	Het
Olfr344	G	A	2: 36,569,341	V248I	probably damaging	Het
Ovgp1	A	C	3: 105,987,071		probably benign	Het
Pitpnm3	T	A	11: 72,071,487	Q230L	possibly damaging	Het
Pkn1	C	T	8: 83,670,293	V910I	probably benign	Het
Plcb1	T	A	2: 135,325,802		probably null	Het
Ppp1r12c	A	G	7: 4,482,789		probably null	Het
Rassf5	T	A	1: 131,244,814	Q106L	possibly damaging	Het
Rfc1	T	C	5: 65,312,979	K62E	possibly damaging	Het
Sf3b1	C	T	1: 55,019,395	E12K	probably damaging	Het
Slc4a1ap	A	T	5: 31,548,638	D691V	probably benign	Het
Speg	T	A	1: 75,422,757	F2283I	probably benign	Het
Synj2	A	G	17: 6,033,839	K267E	probably damaging	Het
Tg	A	T	15: 66,839,362	Y991F	probably damaging	Het
Tlk1	A	T	2: 70,742,083	D380E	probably benign	Het
Trim43b	A	T	9: 89,085,365	L405H	probably damaging	Het
Ttf2	A	G	3: 100,956,260	I586T	probably damaging	Het
Ugt2b36	T	A	5: 87,081,586	R213S	probably damaging	Het
Vmn1r198	T	A	13: 22,354,407	M21K	probably benign	Het
Wdr35	A	T	12: 8,978,685	Y101F	probably benign	Het
Zfp367	T	C	13: 64,144,250	Y189C	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
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
R8716:Cyp3a59	UTSW	5	146096601	missense	probably damaging	0.99
R8728:Cyp3a59	UTSW	5	146098312	critical splice donor site	probably null
R8839:Cyp3a59	UTSW	5	146109086	missense	probably benign
R8969:Cyp3a59	UTSW	5	146112820	missense	probably benign	0.15
Z1088:Cyp3a59	UTSW	5	146098222	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- CCTTAACTCTTTCTCAAAATCATGACT -3'
(R):5'- GTGCATCATGACCAAACCCT -3'

Sequencing Primer
(F):5'- AGTGTACCGAGCCCATTTAG -3'
(R):5'- TCATGACCAAACCCTAAGAATCATG -3'

Posted On

2018-06-06