Mutagenetix > Incidental Mutations

Incidental Mutation 'R5124:Cop1'

393427

Institutional Source

Beutler Lab

Gene Symbol

Cop1

Ensembl Gene

ENSMUSG00000040782

Gene Name

COP1, E3 ubiquitin ligase

Synonyms

Cop1

MMRRC Submission

042712-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.465) question?

Stock #

R5124 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

159232320-159347640 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 159278112 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 33 (Y33C)

Ref Sequence

ENSEMBL: ENSMUSP00000141200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076894] [ENSMUST00000192215] [ENSMUST00000195044]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076894
AA Change: Y333C

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076160
Gene: ENSMUSG00000040782
AA Change: Y333C

Domain	Start	End	E-Value	Type
low complexity region	2	87	N/A	INTRINSIC
low complexity region	98	112	N/A	INTRINSIC
RING	138	175	3.69e-8	SMART
coiled coil region	235	305	N/A	INTRINSIC
WD40	412	451	1.72e0	SMART
WD40	462	501	3.4e-2	SMART
WD40	504	544	3.42e-7	SMART
WD40	547	586	6.79e-2	SMART
WD40	590	628	1.9e-5	SMART
WD40	631	670	4.46e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192215
AA Change: Y259C

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141285
Gene: ENSMUSG00000040782
AA Change: Y259C

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
RING	68	105	1.8e-10	SMART
coiled coil region	161	231	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000192762
AA Change: Y123C

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194713

Predicted Effect

probably damaging
Transcript: ENSMUST00000195044
AA Change: Y33C

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141200
Gene: ENSMUSG00000040782
AA Change: Y33C

Domain	Start	End	E-Value	Type
WD40	112	151	1.1e-2	SMART
WD40	162	201	2.1e-4	SMART

Meta Mutation Damage Score

0.0801

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (60/60)

MGI Phenotype

PHENOTYPE: Mice homozygous for a conditional allele activated in prostate epithelial cells exhibit prostate gland hyperplasia and prostate intraepithelial neoplasia due to increased cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adpgk	A	G	9: 59,315,278	D496G	possibly damaging	Het
Agbl4	A	G	4: 111,656,328	M424V	probably benign	Het
Akap10	C	T	11: 61,916,189	A72T	probably damaging	Het
Bpifa3	C	T	2: 154,138,137	Q230*	probably null	Het
Cog4	G	T	8: 110,847,193	R48L	probably damaging	Het
Cyp26a1	A	T	19: 37,701,217	I454L	probably benign	Het
Ddr1	T	C	17: 35,683,597	H762R	probably damaging	Het
Dnajc2	A	T	5: 21,763,484	S328T	probably benign	Het
Dppa2	G	T	16: 48,311,623	V28F	probably damaging	Het
Dusp15	T	A	2: 152,951,355	M1L	possibly damaging	Het
Eml5	G	A	12: 98,792,042	T1875M	probably damaging	Het
Fam186a	A	G	15: 99,943,096	S1756P	possibly damaging	Het
Gm436	A	T	4: 144,674,719	I65N	probably damaging	Het
Gm5431	T	A	11: 48,889,039	Q630L	probably benign	Het
Gm9733	T	A	3: 15,320,579	R88*	probably null	Het
H6pd	A	G	4: 149,982,055	S625P	possibly damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnj6	G	T	16: 94,832,659	P180T	probably damaging	Het
Lpin3	T	A	2: 160,897,061	M263K	probably benign	Het
Lrp2	A	T	2: 69,501,490	D1640E	probably damaging	Het
Lypd2	C	T	15: 74,732,498	A74T	probably benign	Het
Map4k1	T	C	7: 28,988,832	L223P	probably damaging	Het
Myh7	A	T	14: 54,985,742	Y715*	probably null	Het
Myo9b	T	C	8: 71,355,839	S1697P	probably damaging	Het
Neb	T	C	2: 52,281,498	E1661G	probably damaging	Het
Nek8	A	T	11: 78,172,939	M80K	probably damaging	Het
Nup188	T	A	2: 30,330,935	L979Q	probably damaging	Het
Olfr1218	A	T	2: 89,055,087	V113D	probably damaging	Het
P4htm	T	A	9: 108,581,942	S264C	possibly damaging	Het
Pcdha8	A	G	18: 36,993,715	T417A	probably benign	Het
Pclo	T	C	5: 14,677,392		probably benign	Het
Prox1	T	A	1: 190,161,279	N323I	possibly damaging	Het
Prune2	A	T	19: 17,199,910	R222S	probably damaging	Het
Psmd2	C	A	16: 20,652,698	R100S	possibly damaging	Het
Qrich2	A	T	11: 116,446,773	M1963K	probably damaging	Het
Rbm39	C	T	2: 156,159,162	G324D	probably damaging	Het
Rhobtb1	A	T	10: 69,269,901		probably null	Het
Rhov	G	T	2: 119,271,087	P13T	unknown	Het
Sec14l3	A	G	11: 4,075,209	D273G	possibly damaging	Het
Slco2a1	T	A	9: 103,050,166	I86N	probably damaging	Het
Smg1	A	T	7: 118,213,012	S19T	probably benign	Het
Stk32a	T	C	18: 43,305,017	S194P	probably benign	Het
Syna	G	A	5: 134,559,570	S175L	possibly damaging	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tmem151b	T	C	17: 45,547,119	Y67C	probably damaging	Het
Tshz1	C	T	18: 84,015,467	R272Q	probably damaging	Het
Tti1	A	G	2: 158,008,195	S375P	probably damaging	Het
Vcan	T	C	13: 89,725,517	K73E	probably damaging	Het
Vmn1r202	C	T	13: 22,501,750	V166I	probably benign	Het
Vmn2r10	A	G	5: 109,006,420	V6A	probably benign	Het
Zfhx4	A	G	3: 5,242,047	D111G	probably damaging	Het
Zhx1	C	G	15: 58,054,074	G259R	probably damaging	Het

Other mutations in Cop1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02572:Cop1	APN	1	159308878	unclassified	probably benign
IGL02945:Cop1	APN	1	159306689	missense	probably benign	0.20
IGL03059:Cop1	APN	1	159306709	missense	probably damaging	1.00
R0032:Cop1	UTSW	1	159325036	critical splice donor site	probably null
R0179:Cop1	UTSW	1	159250066	missense	probably benign	0.20
R0846:Cop1	UTSW	1	159319816	missense	probably benign	0.26
R0988:Cop1	UTSW	1	159232847	missense	possibly damaging	0.76
R0988:Cop1	UTSW	1	159244672	missense	probably damaging	1.00
R2296:Cop1	UTSW	1	159244650	missense	possibly damaging	0.92
R2297:Cop1	UTSW	1	159252554	missense	possibly damaging	0.53
R2504:Cop1	UTSW	1	159232805	missense	probably damaging	0.98
R2974:Cop1	UTSW	1	159324929	missense	possibly damaging	0.95
R4889:Cop1	UTSW	1	159284589	missense	probably damaging	1.00
R4965:Cop1	UTSW	1	159239597	missense	probably damaging	0.99
R4981:Cop1	UTSW	1	159325068	unclassified	probably benign
R5263:Cop1	UTSW	1	159324937	missense	probably damaging	1.00
R5268:Cop1	UTSW	1	159327164	missense	probably damaging	1.00
R5470:Cop1	UTSW	1	159266860	intron	probably benign
R5595:Cop1	UTSW	1	159250073	missense	probably benign	0.00
R5919:Cop1	UTSW	1	159319724	missense	probably damaging	1.00
R6386:Cop1	UTSW	1	159289031	missense	probably damaging	1.00
R6865:Cop1	UTSW	1	159308954	missense	probably damaging	1.00
R6995:Cop1	UTSW	1	159306584	missense	probably damaging	1.00
R7056:Cop1	UTSW	1	159250077	missense	probably damaging	0.98
R7146:Cop1	UTSW	1	159244352	splice site	probably null
R7242:Cop1	UTSW	1	159284548	missense	probably benign	0.00
R7309:Cop1	UTSW	1	159306625	missense	probably damaging	0.98
R8495:Cop1	UTSW	1	159250030	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATCCGATGTGCTAACTGATCTTATG -3'
(R):5'- CCCGAGACAAGCAATTCCTG -3'

Sequencing Primer
(F):5'- TTTTGATGTGTATGCTTGAGGAG -3'
(R):5'- GCAATTCCTGACAATATTTTCTCAC -3'

Posted On

2016-06-15