Mutagenetix > Incidental Mutation

Incidental Mutation 'R6345:Cyp2c39'

514139

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c39

Ensembl Gene

ENSMUSG00000025003

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 39

Synonyms

MMRRC Submission

044499-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R6345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39499306-39556973 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 39501615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025968 (fasta)

Gene Model

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

AlphaFold

P56656

Predicted Effect

probably null
Transcript: ENSMUST00000025968

SMART Domains

Protein: ENSMUSP00000025968
Gene: ENSMUSG00000025003

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

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,913 (GRCm39)	I121T	probably benign	Het
4921524L21Rik	T	A	18: 6,626,399 (GRCm39)	M137K	possibly damaging	Het
Angpt4	C	A	2: 151,771,354 (GRCm39)	N223K	probably benign	Het
Ankrd6	T	C	4: 32,810,266 (GRCm39)	R437G	probably damaging	Het
Atp9a	C	T	2: 168,518,093 (GRCm39)	S264N	probably damaging	Het
AY358078	A	C	14: 52,063,749 (GRCm39)	Y465S	probably damaging	Het
Bin3	G	A	14: 70,374,676 (GRCm39)	R235Q	probably benign	Het
Bsn	G	A	9: 107,984,554 (GRCm39)	P3167S	unknown	Het
Camk2g	G	A	14: 20,787,443 (GRCm39)	R274C	probably damaging	Het
Ccdc61	A	T	7: 18,643,914 (GRCm39)		probably null	Het
Ccnjl	A	T	11: 43,476,165 (GRCm39)	T263S	probably benign	Het
Col17a1	G	T	19: 47,641,818 (GRCm39)	P944T	possibly damaging	Het
Cyp4a32	T	C	4: 115,459,560 (GRCm39)	V98A	possibly damaging	Het
Dnah9	A	G	11: 65,928,519 (GRCm39)	V2050A	probably damaging	Het
F5	A	G	1: 164,019,520 (GRCm39)	N665S	probably benign	Het
Fbxl6	A	T	15: 76,420,054 (GRCm39)	C520S	probably damaging	Het
Fscn2	C	A	11: 120,252,853 (GRCm39)	H107N	probably damaging	Het
Gfm2	C	T	13: 97,299,461 (GRCm39)	T367M	probably damaging	Het
Gle1	C	G	2: 29,826,127 (GRCm39)	P69A	probably benign	Het
Gpr156	A	T	16: 37,807,881 (GRCm39)	D176V	probably damaging	Het
Grip2	A	G	6: 91,742,369 (GRCm39)	S895P	possibly damaging	Het
Hfm1	C	T	5: 106,989,504 (GRCm39)	G1404D	probably benign	Het
Ifit1bl1	G	A	19: 34,571,570 (GRCm39)	R296*	probably null	Het
Ighv1-39	C	T	12: 114,878,479 (GRCm39)	V31M	possibly damaging	Het
Itgav	A	G	2: 83,632,380 (GRCm39)	E956G	probably damaging	Het
Katnip	C	A	7: 125,352,159 (GRCm39)	D26E	probably damaging	Het
Lsm8	A	G	6: 18,853,644 (GRCm39)	D86G	probably damaging	Het
Mdh1b	T	G	1: 63,754,398 (GRCm39)	H390P	possibly damaging	Het
Mtrf1l	A	T	10: 5,767,468 (GRCm39)	I216N	possibly damaging	Het
Muc16	G	A	9: 18,566,222 (GRCm39)	T2099I	unknown	Het
Myh7	T	C	14: 55,221,149 (GRCm39)	R925G	probably damaging	Het
Myo1h	T	A	5: 114,489,769 (GRCm39)	I658N	probably damaging	Het
Myo5a	A	T	9: 75,097,195 (GRCm39)	D81V	possibly damaging	Het
Nell1	G	A	7: 49,625,171 (GRCm39)	C12Y	possibly damaging	Het
Obscn	T	C	11: 58,944,522 (GRCm39)	Y4724C	probably damaging	Het
Or8k53	A	G	2: 86,177,892 (GRCm39)	Y73H	probably damaging	Het
Pah	G	A	10: 87,412,049 (GRCm39)	D315N	probably damaging	Het
Per2	A	G	1: 91,376,444 (GRCm39)	V143A	probably damaging	Het
Plcxd1	T	C	5: 110,248,165 (GRCm39)	V38A	probably benign	Het
Pld1	A	G	3: 28,184,896 (GRCm39)		probably benign	Het
Plekhh2	A	G	17: 84,883,215 (GRCm39)	N761S	probably benign	Het
Polh	T	C	17: 46,493,664 (GRCm39)	I318V	probably benign	Het
Prex1	T	C	2: 166,414,880 (GRCm39)	Q1323R	probably null	Het
Rb1cc1	T	A	1: 6,333,481 (GRCm39)	S1440T	probably benign	Het
Rbm19	G	T	5: 120,265,105 (GRCm39)	W382L	possibly damaging	Het
Rchy1	T	C	5: 92,105,801 (GRCm39)	D49G	probably benign	Het
Ric1	A	G	19: 29,581,485 (GRCm39)	D1402G	probably benign	Het
S1pr3	G	T	13: 51,573,067 (GRCm39)	A83S	probably damaging	Het
S1pr3	C	A	13: 51,573,068 (GRCm39)	A83D	probably damaging	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Serpinb9c	T	C	13: 33,333,978 (GRCm39)	R355G	probably damaging	Het
Slx4	G	C	16: 3,808,714 (GRCm39)	Q409E	probably benign	Het
Sntg1	A	C	1: 8,653,508 (GRCm39)	L243R	possibly damaging	Het
Specc1l	G	T	10: 75,084,322 (GRCm39)	D682Y	probably damaging	Het
Spen	C	T	4: 141,198,944 (GRCm39)	V3228I	possibly damaging	Het
Strip1	T	C	3: 107,535,516 (GRCm39)	E69G	probably damaging	Het
Tasp1	C	A	2: 139,793,457 (GRCm39)	V240L	probably damaging	Het
Tdrd9	T	A	12: 112,001,042 (GRCm39)	F787L	probably damaging	Het
Vmn1r228	A	G	17: 20,997,144 (GRCm39)	S125P	probably damaging	Het
Wdhd1	A	G	14: 47,489,379 (GRCm39)	M718T	probably damaging	Het

Other mutations in Cyp2c39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00646:Cyp2c39	APN	19	39,501,935 (GRCm39)	splice site	probably benign
IGL01806:Cyp2c39	APN	19	39,525,264 (GRCm39)	missense	probably damaging	1.00
IGL02158:Cyp2c39	APN	19	39,556,574 (GRCm39)	missense	probably benign
IGL02219:Cyp2c39	APN	19	39,556,643 (GRCm39)	utr 3 prime	probably benign
IGL02483:Cyp2c39	APN	19	39,525,231 (GRCm39)	missense	probably damaging	1.00
IGL02490:Cyp2c39	APN	19	39,527,446 (GRCm39)	missense	probably damaging	1.00
IGL02597:Cyp2c39	APN	19	39,549,331 (GRCm39)	nonsense	probably null
IGL03089:Cyp2c39	APN	19	39,552,295 (GRCm39)	missense	probably benign	0.00
IGL03197:Cyp2c39	APN	19	39,555,361 (GRCm39)	missense	probably damaging	1.00
IGL03392:Cyp2c39	APN	19	39,501,767 (GRCm39)	missense	probably benign	0.40
G1citation:Cyp2c39	UTSW	19	39,525,261 (GRCm39)	missense	probably damaging	0.98
R0086:Cyp2c39	UTSW	19	39,499,357 (GRCm39)	missense	unknown
R0369:Cyp2c39	UTSW	19	39,502,079 (GRCm39)	missense	probably damaging	1.00
R0585:Cyp2c39	UTSW	19	39,525,203 (GRCm39)	missense	probably benign	0.43
R0586:Cyp2c39	UTSW	19	39,501,934 (GRCm39)	splice site	probably benign
R0906:Cyp2c39	UTSW	19	39,499,315 (GRCm39)	start codon destroyed	probably null
R1613:Cyp2c39	UTSW	19	39,527,455 (GRCm39)	missense	probably damaging	0.99
R1711:Cyp2c39	UTSW	19	39,555,335 (GRCm39)	missense	probably damaging	1.00
R1780:Cyp2c39	UTSW	19	39,527,295 (GRCm39)	splice site	probably benign
R2208:Cyp2c39	UTSW	19	39,549,405 (GRCm39)	missense	possibly damaging	0.56
R2327:Cyp2c39	UTSW	19	39,527,397 (GRCm39)	missense	probably benign	0.07
R3431:Cyp2c39	UTSW	19	39,525,306 (GRCm39)	missense	probably damaging	0.99
R4847:Cyp2c39	UTSW	19	39,549,340 (GRCm39)	missense	probably damaging	1.00
R4866:Cyp2c39	UTSW	19	39,502,020 (GRCm39)	missense	probably benign	0.43
R4900:Cyp2c39	UTSW	19	39,502,020 (GRCm39)	missense	probably benign	0.43
R4974:Cyp2c39	UTSW	19	39,552,323 (GRCm39)	missense	probably benign	0.25
R5159:Cyp2c39	UTSW	19	39,549,378 (GRCm39)	missense	possibly damaging	0.96
R5470:Cyp2c39	UTSW	19	39,501,974 (GRCm39)	missense	possibly damaging	0.54
R5860:Cyp2c39	UTSW	19	39,525,270 (GRCm39)	missense	probably damaging	1.00
R6013:Cyp2c39	UTSW	19	39,501,969 (GRCm39)	missense	probably benign	0.03
R6018:Cyp2c39	UTSW	19	39,499,436 (GRCm39)	missense	probably damaging	1.00
R6230:Cyp2c39	UTSW	19	39,525,246 (GRCm39)	missense	probably damaging	1.00
R6261:Cyp2c39	UTSW	19	39,556,463 (GRCm39)	missense	probably damaging	1.00
R6345:Cyp2c39	UTSW	19	39,501,616 (GRCm39)	critical splice acceptor site	probably null
R6822:Cyp2c39	UTSW	19	39,525,261 (GRCm39)	missense	probably damaging	0.98
R6925:Cyp2c39	UTSW	19	39,501,639 (GRCm39)	missense	probably damaging	1.00
R7578:Cyp2c39	UTSW	19	39,499,400 (GRCm39)	missense	probably damaging	1.00
R7871:Cyp2c39	UTSW	19	39,549,405 (GRCm39)	missense	possibly damaging	0.56
R8032:Cyp2c39	UTSW	19	39,499,426 (GRCm39)	missense	probably benign	0.00
R8293:Cyp2c39	UTSW	19	39,552,411 (GRCm39)	missense	probably benign	0.03
R8393:Cyp2c39	UTSW	19	39,525,255 (GRCm39)	missense	possibly damaging	0.87
R8954:Cyp2c39	UTSW	19	39,525,197 (GRCm39)	missense	probably benign	0.04
R8985:Cyp2c39	UTSW	19	39,552,419 (GRCm39)	missense	probably benign	0.34
R9146:Cyp2c39	UTSW	19	39,527,344 (GRCm39)	missense
R9224:Cyp2c39	UTSW	19	39,527,332 (GRCm39)	missense	probably benign	0.17
R9472:Cyp2c39	UTSW	19	39,502,043 (GRCm39)	missense	probably damaging	1.00
R9615:Cyp2c39	UTSW	19	39,501,617 (GRCm39)	missense	probably benign	0.02
R9616:Cyp2c39	UTSW	19	39,501,648 (GRCm39)	missense	probably damaging	1.00
R9717:Cyp2c39	UTSW	19	39,556,493 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- ATCTTTGCATAACAACTGCCTG -3'
(R):5'- ACACTTACTTACCAAGGCCG -3'

Sequencing Primer
(F):5'- GAACCCTAAGGCATTACATGATTGG -3'
(R):5'- CTTACTTACCAAGGCCGTTATTAATC -3'

Posted On

2018-04-27