Mutagenetix > Incidental Mutation

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

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

Meta Mutation Damage Score

0.0846

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
R9478:Cyp3a59	UTSW	5	146098187	missense	probably damaging	0.98
R9697:Cyp3a59	UTSW	5	146094380	missense	probably damaging	0.99
R9705:Cyp3a59	UTSW	5	146096310	missense	probably benign	0.00
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