Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Cyp2c39'

730575

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c39

Ensembl Gene

ENSMUSG00000025003

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 39

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39510862-39568529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39568049 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 443 (M443T)

Ref Sequence

ENSEMBL: ENSMUSP00000025968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025968]

AlphaFold

P56656

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025968
AA Change: M443T

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025968
Gene: ENSMUSG00000025003
AA Change: M443T

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
Pfam:p450	30	487	1.1e-163	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,520,781	N2552I	probably damaging	Het
Amph	G	T	13: 19,125,083	A444S	probably benign	Het
Ankrd52	A	G	10: 128,380,588	N157S	probably benign	Het
Arhgap29	T	C	3: 122,004,271	F537L	probably benign	Het
Asic1	A	C	15: 99,692,776	T136P	probably damaging	Het
Atg2b	T	C	12: 105,639,302	Y1468C	probably benign	Het
Atm	A	G	9: 53,516,517	L431P	probably damaging	Het
Btaf1	A	G	19: 36,945,246	T17A	probably benign	Het
Car10	A	G	11: 93,304,541	N58S	probably benign	Het
Cd79b	A	T	11: 106,312,019	D252E	probably damaging	Het
Cdipt	C	T	7: 126,977,030		probably benign	Het
Cebpe	T	C	14: 54,711,708	D84G	probably damaging	Het
Cenpj	T	C	14: 56,552,996	E532G	probably benign	Het
Cherp	A	G	8: 72,463,076		probably null	Het
Chuk	T	C	19: 44,082,670	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,397,640	T9I	probably benign	Het
Clspn	G	T	4: 126,564,963	A280S	possibly damaging	Het
Cts3	T	G	13: 61,564,985	Y307S	probably benign	Het
Dhx57	C	T	17: 80,275,018	R386H	probably damaging	Het
Dhx58	A	T	11: 100,701,307	M305K	probably benign	Het
Dlgap3	T	C	4: 127,235,494	L894P	probably damaging	Het
Dnah3	A	T	7: 119,975,076	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,902,283	N183S	probably benign	Het
Drd5	G	T	5: 38,320,747	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,305,141	E159G	probably damaging	Het
Exoc1	T	A	5: 76,563,232	S659R	probably benign	Het
Fam214b	T	C	4: 43,036,050	H227R	probably damaging	Het
Fbln7	T	C	2: 128,877,394	I37T	probably benign	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,763,694	S304T	probably damaging	Het
Gbp9	C	A	5: 105,105,721	G43*	probably null	Het
Gm21671	T	C	5: 25,949,831	E257G	probably damaging	Het
Gucy2d	A	G	7: 98,474,661	K151R	probably benign	Het
Heatr4	T	A	12: 83,978,055	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,609,627	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,982,119	T156M	probably benign	Het
Hrnr	A	T	3: 93,320,680	E35V	probably damaging	Het
Idua	C	T	5: 108,670,171	Q70*	probably null	Het
Klf5	A	T	14: 99,301,753	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,234,010	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,268,383	D1721E		Het
Mdh1	T	A	11: 21,571,870		probably benign	Het
Mllt11	T	C	3: 95,220,210	H83R	probably benign	Het
Mrgprb4	A	C	7: 48,198,835	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,132,470	F319S	probably damaging	Het
Naif1	A	T	2: 32,454,895	M204L	probably benign	Het
Ncan	T	A	8: 70,101,978	D1063V	probably damaging	Het
Noto	A	T	6: 85,424,345	R119W	possibly damaging	Het
Olfr1220	G	A	2: 89,097,229	L233F	probably benign	Het
Olfr147	A	T	9: 38,403,545	I224F	probably damaging	Het
Olfr573-ps1	A	T	7: 102,941,958	D206E	probably damaging	Het
Olfr816	T	A	10: 129,912,179	Y33F	probably damaging	Het
Ovch2	A	G	7: 107,794,377	W181R	probably damaging	Het
Palm	G	C	10: 79,819,283	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,072,715	L591*	probably null	Het
Pik3c2g	T	C	6: 139,896,184	S772P		Het
Prx	C	A	7: 27,517,986	D776E	probably benign	Het
Ptpra	A	G	2: 130,542,446	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,757,331	Y25C	probably damaging	Het
Reln	T	C	5: 21,931,429	T2534A	probably benign	Het
Rnf123	T	C	9: 108,077,764	S14G	probably benign	Het
Rock2	A	G	12: 16,965,601	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,025	V87A	possibly damaging	Het
S100b	G	A	10: 76,257,102	G23D	probably damaging	Het
Scn9a	T	A	2: 66,526,658	M1100L	probably benign	Het
Sept11	T	A	5: 93,148,407	S55T	possibly damaging	Het
Sv2b	T	A	7: 75,119,928	Q622L	probably benign	Het
Taar7a	T	C	10: 23,992,901	D194G	probably benign	Het
Trappc3	T	C	4: 126,275,221	I168T	probably benign	Het
Trim27	T	C	13: 21,190,126		probably null	Het
Wdr49	G	A	3: 75,397,052	T109I	probably benign	Het
Wdr64	T	C	1: 175,717,288	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,009,592	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,374,848	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,662,908	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,682,137	A289T	probably benign	Het
Zscan5b	T	C	7: 6,231,526	S184P	possibly damaging	Het

Other mutations in Cyp2c39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00646:Cyp2c39	APN	19	39513491	splice site	probably benign
IGL01806:Cyp2c39	APN	19	39536820	missense	probably damaging	1.00
IGL02158:Cyp2c39	APN	19	39568130	missense	probably benign
IGL02219:Cyp2c39	APN	19	39568199	utr 3 prime	probably benign
IGL02483:Cyp2c39	APN	19	39536787	missense	probably damaging	1.00
IGL02490:Cyp2c39	APN	19	39539002	missense	probably damaging	1.00
IGL02597:Cyp2c39	APN	19	39560887	nonsense	probably null
IGL03089:Cyp2c39	APN	19	39563851	missense	probably benign	0.00
IGL03197:Cyp2c39	APN	19	39566917	missense	probably damaging	1.00
IGL03392:Cyp2c39	APN	19	39513323	missense	probably benign	0.40
G1citation:Cyp2c39	UTSW	19	39536817	missense	probably damaging	0.98
R0086:Cyp2c39	UTSW	19	39510913	missense	unknown
R0369:Cyp2c39	UTSW	19	39513635	missense	probably damaging	1.00
R0585:Cyp2c39	UTSW	19	39536759	missense	probably benign	0.43
R0586:Cyp2c39	UTSW	19	39513490	splice site	probably benign
R0906:Cyp2c39	UTSW	19	39510871	start codon destroyed	probably null
R1613:Cyp2c39	UTSW	19	39539011	missense	probably damaging	0.99
R1711:Cyp2c39	UTSW	19	39566891	missense	probably damaging	1.00
R1780:Cyp2c39	UTSW	19	39538851	splice site	probably benign
R2208:Cyp2c39	UTSW	19	39560961	missense	possibly damaging	0.56
R2327:Cyp2c39	UTSW	19	39538953	missense	probably benign	0.07
R3431:Cyp2c39	UTSW	19	39536862	missense	probably damaging	0.99
R4847:Cyp2c39	UTSW	19	39560896	missense	probably damaging	1.00
R4866:Cyp2c39	UTSW	19	39513576	missense	probably benign	0.43
R4900:Cyp2c39	UTSW	19	39513576	missense	probably benign	0.43
R4974:Cyp2c39	UTSW	19	39563879	missense	probably benign	0.25
R5159:Cyp2c39	UTSW	19	39560934	missense	possibly damaging	0.96
R5470:Cyp2c39	UTSW	19	39513530	missense	possibly damaging	0.54
R5860:Cyp2c39	UTSW	19	39536826	missense	probably damaging	1.00
R6013:Cyp2c39	UTSW	19	39513525	missense	probably benign	0.03
R6018:Cyp2c39	UTSW	19	39510992	missense	probably damaging	1.00
R6230:Cyp2c39	UTSW	19	39536802	missense	probably damaging	1.00
R6261:Cyp2c39	UTSW	19	39568019	missense	probably damaging	1.00
R6345:Cyp2c39	UTSW	19	39513171	critical splice acceptor site	probably null
R6345:Cyp2c39	UTSW	19	39513172	critical splice acceptor site	probably null
R6822:Cyp2c39	UTSW	19	39536817	missense	probably damaging	0.98
R6925:Cyp2c39	UTSW	19	39513195	missense	probably damaging	1.00
R7578:Cyp2c39	UTSW	19	39510956	missense	probably damaging	1.00
R7871:Cyp2c39	UTSW	19	39560961	missense	possibly damaging	0.56
R8032:Cyp2c39	UTSW	19	39510982	missense	probably benign	0.00
R8293:Cyp2c39	UTSW	19	39563967	missense	probably benign	0.03
R8393:Cyp2c39	UTSW	19	39536811	missense	possibly damaging	0.87
R8954:Cyp2c39	UTSW	19	39536753	missense	probably benign	0.04
R8985:Cyp2c39	UTSW	19	39563975	missense	probably benign	0.34
R9146:Cyp2c39	UTSW	19	39538900	missense
R9224:Cyp2c39	UTSW	19	39538888	missense	probably benign	0.17
R9472:Cyp2c39	UTSW	19	39513599	missense	probably damaging	1.00
R9615:Cyp2c39	UTSW	19	39513173	missense	probably benign	0.02
R9616:Cyp2c39	UTSW	19	39513204	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGTGTGCACTTCCAGTTTC -3'
(R):5'- AAAGGGGTTTTGTGAGCCAG -3'

Sequencing Primer
(F):5'- CCCACGAAGTTTTATTACAGGTGTG -3'
(R):5'- CCAGGATGGAAGATGCCTTATTCC -3'

Posted On

2022-10-06