Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02572:Cop1'

299069

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cop1

Ensembl Gene

ENSMUSG00000040782

Gene Name

COP1, E3 ubiquitin ligase

Synonyms

Rfwd2, Cop1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

IGL02572

Quality Score

Status

Chromosome

Chromosomal Location

159059890-159175210 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 159136448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141200 (fasta)

Gene Model

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

AlphaFold

Q9R1A8

Predicted Effect

probably benign
Transcript: ENSMUST00000076894

SMART Domains

Protein: ENSMUSP00000076160
Gene: ENSMUSG00000040782

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

probably benign
Transcript: ENSMUST00000192044

Predicted Effect

probably benign
Transcript: ENSMUST00000192762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194798

Predicted Effect

probably benign
Transcript: ENSMUST00000195044

SMART Domains

Protein: ENSMUSP00000141200
Gene: ENSMUSG00000040782

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

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	T	C	1: 85,652,892 (GRCm39)	N92S	probably damaging	Het
Abca2	T	C	2: 25,323,329 (GRCm39)	L99P	possibly damaging	Het
Adam19	T	A	11: 46,022,548 (GRCm39)	Y500*	probably null	Het
Amy1	A	T	3: 113,358,722 (GRCm39)		probably benign	Het
Aox3	T	C	1: 58,197,526 (GRCm39)	I624T	probably damaging	Het
Atad3a	C	T	4: 155,838,041 (GRCm39)	D244N	possibly damaging	Het
Atp5mf	C	A	5: 145,124,047 (GRCm39)		probably benign	Het
Bbof1	G	A	12: 84,475,139 (GRCm39)	D443N	probably damaging	Het
Bod1l	G	A	5: 41,978,573 (GRCm39)	Q914*	probably null	Het
C330011M18Rik	A	G	8: 84,793,208 (GRCm39)		probably benign	Het
Cgref1	A	G	5: 31,090,911 (GRCm39)	V301A	probably benign	Het
Coa6	T	C	8: 127,149,480 (GRCm39)	Y19H	probably damaging	Het
Dmrta1	T	C	4: 89,579,795 (GRCm39)	S252P	probably benign	Het
Dnaaf5	T	G	5: 139,170,384 (GRCm39)	S484A	probably benign	Het
Dspp	A	T	5: 104,324,935 (GRCm39)	S433C	probably damaging	Het
Efcab5	G	A	11: 77,028,714 (GRCm39)	R206*	probably null	Het
Epop	A	T	11: 97,519,027 (GRCm39)	S361T	probably benign	Het
Fat3	T	A	9: 15,871,802 (GRCm39)	T3530S	probably benign	Het
Flvcr1	A	G	1: 190,757,843 (GRCm39)	Y108H	probably damaging	Het
Fsip2	T	G	2: 82,822,347 (GRCm39)	S6027A	probably benign	Het
Galnt14	A	G	17: 73,842,262 (GRCm39)	L209P	probably damaging	Het
Hif3a	C	A	7: 16,784,513 (GRCm39)	R25L	probably null	Het
Hsf5	A	G	11: 87,522,521 (GRCm39)		probably benign	Het
Il22ra2	A	T	10: 19,502,492 (GRCm39)	T104S	probably benign	Het
Klrk1	A	G	6: 129,592,316 (GRCm39)	S138P	probably damaging	Het
Lrp5	G	T	19: 3,664,283 (GRCm39)	Q815K	probably benign	Het
Morn4	A	G	19: 42,064,886 (GRCm39)		probably benign	Het
Nlrp14	T	A	7: 106,781,929 (GRCm39)	Y375*	probably null	Het
Nsd1	T	A	13: 55,443,943 (GRCm39)	M1714K	probably damaging	Het
Or2aj6	T	A	16: 19,443,848 (GRCm39)	M1L	probably benign	Het
Or5aq7	G	A	2: 86,938,710 (GRCm39)	T7I	possibly damaging	Het
Or6c213	T	A	10: 129,574,735 (GRCm39)	D17V	possibly damaging	Het
Pappa2	C	T	1: 158,678,786 (GRCm39)	A877T	probably benign	Het
Pcsk2	G	A	2: 143,532,262 (GRCm39)	A137T	probably damaging	Het
Piezo1	A	G	8: 123,212,044 (GRCm39)	V2054A	probably benign	Het
Rad52	A	G	6: 119,892,188 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rusf1	A	T	7: 127,889,752 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,519,740 (GRCm39)		probably benign	Het
Scrn1	C	T	6: 54,489,186 (GRCm39)	D312N	probably benign	Het
Sin3b	A	G	8: 73,471,109 (GRCm39)	Q352R	probably benign	Het
Slc25a28	A	G	19: 43,652,885 (GRCm39)	Y259H	probably damaging	Het
Sppl2a	T	C	2: 126,768,216 (GRCm39)	M151V	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stra8	G	A	6: 34,916,094 (GRCm39)	D280N	probably damaging	Het
Thbs2	A	T	17: 14,897,275 (GRCm39)	D744E	possibly damaging	Het
Tiparp	A	G	3: 65,439,310 (GRCm39)	T27A	probably benign	Het
Tmem38a	T	C	8: 73,333,818 (GRCm39)	F99S	probably damaging	Het
Tmod3	T	C	9: 75,416,667 (GRCm39)	T222A	probably benign	Het
Tnn	A	G	1: 159,913,677 (GRCm39)	I1272T	probably damaging	Het
Tnpo1	A	T	13: 98,985,667 (GRCm39)	I829N	probably damaging	Het
Trpm5	A	T	7: 142,641,613 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,598,215 (GRCm39)	V19566A	probably damaging	Het
V1ra8	A	G	6: 90,180,040 (GRCm39)	D81G	probably damaging	Het
Zdhhc20	A	G	14: 58,127,564 (GRCm39)	V25A	probably benign	Het

Other mutations in Cop1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02945:Cop1	APN	1	159,134,259 (GRCm39)	missense	probably benign	0.20
IGL03059:Cop1	APN	1	159,134,279 (GRCm39)	missense	probably damaging	1.00
R0032:Cop1	UTSW	1	159,152,606 (GRCm39)	critical splice donor site	probably null
R0179:Cop1	UTSW	1	159,077,636 (GRCm39)	missense	probably benign	0.20
R0846:Cop1	UTSW	1	159,147,386 (GRCm39)	missense	probably benign	0.26
R0988:Cop1	UTSW	1	159,072,242 (GRCm39)	missense	probably damaging	1.00
R0988:Cop1	UTSW	1	159,060,417 (GRCm39)	missense	possibly damaging	0.76
R2296:Cop1	UTSW	1	159,072,220 (GRCm39)	missense	possibly damaging	0.92
R2297:Cop1	UTSW	1	159,080,124 (GRCm39)	missense	possibly damaging	0.53
R2504:Cop1	UTSW	1	159,060,375 (GRCm39)	missense	probably damaging	0.98
R2974:Cop1	UTSW	1	159,152,499 (GRCm39)	missense	possibly damaging	0.95
R4889:Cop1	UTSW	1	159,112,159 (GRCm39)	missense	probably damaging	1.00
R4965:Cop1	UTSW	1	159,067,167 (GRCm39)	missense	probably damaging	0.99
R4981:Cop1	UTSW	1	159,152,638 (GRCm39)	unclassified	probably benign
R5124:Cop1	UTSW	1	159,105,682 (GRCm39)	missense	probably damaging	0.96
R5263:Cop1	UTSW	1	159,152,507 (GRCm39)	missense	probably damaging	1.00
R5268:Cop1	UTSW	1	159,154,734 (GRCm39)	missense	probably damaging	1.00
R5470:Cop1	UTSW	1	159,094,430 (GRCm39)	intron	probably benign
R5595:Cop1	UTSW	1	159,077,643 (GRCm39)	missense	probably benign	0.00
R5919:Cop1	UTSW	1	159,147,294 (GRCm39)	missense	probably damaging	1.00
R6386:Cop1	UTSW	1	159,116,601 (GRCm39)	missense	probably damaging	1.00
R6865:Cop1	UTSW	1	159,136,524 (GRCm39)	missense	probably damaging	1.00
R6995:Cop1	UTSW	1	159,134,154 (GRCm39)	missense	probably damaging	1.00
R7056:Cop1	UTSW	1	159,077,647 (GRCm39)	missense	probably damaging	0.98
R7146:Cop1	UTSW	1	159,071,922 (GRCm39)	splice site	probably null
R7242:Cop1	UTSW	1	159,112,118 (GRCm39)	missense	probably benign	0.00
R7309:Cop1	UTSW	1	159,134,195 (GRCm39)	missense	probably damaging	0.98
R8495:Cop1	UTSW	1	159,077,600 (GRCm39)	missense	probably benign	0.01
R9125:Cop1	UTSW	1	159,067,187 (GRCm39)	missense	probably damaging	1.00
R9180:Cop1	UTSW	1	159,147,339 (GRCm39)	missense	probably damaging	1.00
R9269:Cop1	UTSW	1	159,116,553 (GRCm39)	missense	probably benign	0.28
R9337:Cop1	UTSW	1	159,072,221 (GRCm39)	missense	probably benign	0.17
R9696:Cop1	UTSW	1	159,076,783 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16