Incidental Mutation 'R0988:Cop1'
ID |
97338 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cop1
|
Ensembl Gene |
ENSMUSG00000040782 |
Gene Name |
COP1, E3 ubiquitin ligase |
Synonyms |
Rfwd2, Cop1 |
MMRRC Submission |
039108-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.544)
|
Stock # |
R0988 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
159059890-159175210 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 159072242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 186
(Y186C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076160
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076894]
[ENSMUST00000192215]
[ENSMUST00000195800]
|
AlphaFold |
Q9R1A8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076894
AA Change: Y186C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000076160 Gene: ENSMUSG00000040782 AA Change: Y186C
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 damaging
Transcript: ENSMUST00000192215
AA Change: Y116C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141285 Gene: ENSMUSG00000040782 AA Change: Y116C
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 |
probably benign
Transcript: ENSMUST00000192762
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194049
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195554
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195800
|
SMART Domains |
Protein: ENSMUSP00000141941 Gene: ENSMUSG00000040782
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
87 |
N/A |
INTRINSIC |
low complexity region
|
98 |
112 |
N/A |
INTRINSIC |
Pfam:zf-C3HC4
|
138 |
159 |
3.2e-5 |
PFAM |
|
Meta Mutation Damage Score |
0.4247 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.0%
|
Validation Efficiency |
97% (34/35) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
C |
12: 118,896,310 (GRCm39) |
I340V |
probably benign |
Het |
Ano1 |
T |
G |
7: 144,187,390 (GRCm39) |
S459R |
possibly damaging |
Het |
Cst11 |
G |
A |
2: 148,612,346 (GRCm39) |
T97I |
probably benign |
Het |
Ephb2 |
T |
A |
4: 136,387,019 (GRCm39) |
Y736F |
possibly damaging |
Het |
Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,225,463 (GRCm39) |
I124T |
probably damaging |
Het |
Hpn |
T |
C |
7: 30,799,323 (GRCm39) |
Y271C |
possibly damaging |
Het |
Kmt2a |
A |
G |
9: 44,759,846 (GRCm39) |
S668P |
probably benign |
Het |
Krtap4-9 |
T |
A |
11: 99,676,362 (GRCm39) |
C94* |
probably null |
Het |
Lgmn |
T |
C |
12: 102,364,536 (GRCm39) |
D311G |
probably damaging |
Het |
Macroh2a1 |
T |
C |
13: 56,231,109 (GRCm39) |
|
probably null |
Het |
Mfsd14b |
T |
C |
13: 65,260,307 (GRCm39) |
|
probably benign |
Het |
Micu1 |
C |
A |
10: 59,592,549 (GRCm39) |
|
probably benign |
Het |
Muc5b |
A |
G |
7: 141,425,532 (GRCm39) |
I4726V |
probably benign |
Het |
Nadk2 |
T |
A |
15: 9,103,080 (GRCm39) |
N310K |
probably damaging |
Het |
Napg |
T |
C |
18: 63,116,431 (GRCm39) |
|
probably benign |
Het |
Nav3 |
G |
A |
10: 109,552,389 (GRCm39) |
R1818W |
probably damaging |
Het |
Ntpcr |
T |
C |
8: 126,464,170 (GRCm39) |
|
probably benign |
Het |
Or1j13 |
T |
C |
2: 36,369,779 (GRCm39) |
D121G |
probably damaging |
Het |
Or51af1 |
T |
A |
7: 103,141,954 (GRCm39) |
I44F |
probably damaging |
Het |
Or5b99 |
A |
G |
19: 12,977,151 (GRCm39) |
D267G |
probably benign |
Het |
Or6c214 |
A |
G |
10: 129,590,866 (GRCm39) |
V151A |
probably benign |
Het |
Pdia2 |
A |
G |
17: 26,417,803 (GRCm39) |
F69L |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,564,404 (GRCm39) |
T1333A |
probably damaging |
Het |
Platr26 |
A |
T |
2: 71,553,631 (GRCm39) |
|
noncoding transcript |
Het |
Proc |
T |
C |
18: 32,266,536 (GRCm39) |
D97G |
probably benign |
Het |
Ptpn23 |
C |
T |
9: 110,217,845 (GRCm39) |
R700H |
probably benign |
Het |
Rragc |
T |
A |
4: 123,818,575 (GRCm39) |
|
probably null |
Het |
Serac1 |
A |
T |
17: 6,111,855 (GRCm39) |
F244I |
probably benign |
Het |
Snrpd3 |
A |
G |
10: 75,368,039 (GRCm39) |
D52G |
probably damaging |
Het |
Thrb |
G |
T |
14: 17,981,837 (GRCm38) |
|
probably benign |
Het |
Ttc6 |
T |
C |
12: 57,735,435 (GRCm39) |
|
probably benign |
Het |
Zfp607b |
T |
A |
7: 27,402,401 (GRCm39) |
C286S |
probably benign |
Het |
|
Other mutations in Cop1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02572:Cop1
|
APN |
1 |
159,136,448 (GRCm39) |
unclassified |
probably benign |
|
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 |
159,060,417 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCATAGGCATTTGCTTTCCTTGTGTA -3'
(R):5'- TGTCCTAAACCTCTGACAACTCCTTGA -3'
Sequencing Primer
(F):5'- ATATCAGTTGTGTTGAAAGTGAGAGC -3'
(R):5'- GTCCAAAATTCTAAGGGCATGTTG -3'
|
Posted On |
2014-01-05 |