Incidental Mutation 'R4889:Cop1'
| ID |
377176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cop1
|
| Ensembl Gene |
ENSMUSG00000040782 |
| Gene Name |
COP1, E3 ubiquitin ligase |
| Synonyms |
Rfwd2, Cop1 |
| MMRRC Submission |
042494-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R4889 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
159059890-159175210 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 159112159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 284
(R284S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076894]
[ENSMUST00000192215]
[ENSMUST00000195044]
|
| AlphaFold |
Q9R1A8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076894
AA Change: R358S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076160
Gene: ENSMUSG00000040782
AA Change: R358S
| 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: R284S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141285
Gene: ENSMUSG00000040782
AA Change: R284S
| 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 damaging
Transcript: ENSMUST00000192762
AA Change: R148S
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195044
AA Change: R58S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141200
Gene: ENSMUSG00000040782
AA Change: R58S
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
112 |
151 |
1.1e-2 |
SMART |
|
WD40
|
162 |
201 |
2.1e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.5900 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (59/60) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ado |
G |
C |
10: 67,384,135 (GRCm39) |
R157G |
probably benign |
Het |
| Akap12 |
C |
A |
10: 4,306,535 (GRCm39) |
A1115E |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,711,787 (GRCm39) |
M196V |
probably null |
Het |
| Appl2 |
G |
A |
10: 83,476,922 (GRCm39) |
T34I |
probably damaging |
Het |
| Arhgap21 |
T |
C |
2: 20,885,279 (GRCm39) |
S472G |
probably benign |
Het |
| Asmt |
G |
T |
X: 169,110,764 (GRCm39) |
R250L |
possibly damaging |
Het |
| Baz2b |
A |
T |
2: 59,767,070 (GRCm39) |
I870N |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,871,700 (GRCm39) |
Q667R |
possibly damaging |
Het |
| Cercam |
A |
G |
2: 29,771,845 (GRCm39) |
D555G |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,858,893 (GRCm39) |
V9A |
possibly damaging |
Het |
| Ctsm |
A |
G |
13: 61,686,215 (GRCm39) |
F106S |
probably damaging |
Het |
| Dhx9 |
A |
T |
1: 153,356,895 (GRCm39) |
L118Q |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,235,938 (GRCm39) |
C355F |
probably benign |
Het |
| Dock1 |
C |
A |
7: 134,346,705 (GRCm39) |
N212K |
probably benign |
Het |
| Efemp2 |
T |
A |
19: 5,525,148 (GRCm39) |
L18Q |
probably null |
Het |
| Flvcr1 |
A |
G |
1: 190,757,764 (GRCm39) |
L176P |
probably damaging |
Het |
| Gm16505 |
A |
T |
13: 3,411,125 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6457 |
A |
T |
18: 14,703,501 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptab |
A |
G |
10: 88,269,775 (GRCm39) |
N826S |
probably benign |
Het |
| Hdc |
T |
G |
2: 126,436,053 (GRCm39) |
N606T |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,127 (GRCm39) |
D113G |
probably benign |
Het |
| Maml3 |
C |
T |
3: 51,601,931 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
A |
T |
6: 39,396,939 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,723,238 (GRCm39) |
V720A |
probably damaging |
Het |
| Nkx3-1 |
G |
A |
14: 69,428,447 (GRCm39) |
|
probably null |
Het |
| Npat |
T |
C |
9: 53,473,507 (GRCm39) |
I433T |
probably benign |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or10ag53 |
A |
T |
2: 87,082,991 (GRCm39) |
I237F |
probably damaging |
Het |
| Or1l4 |
A |
G |
2: 37,092,057 (GRCm39) |
Y268C |
probably damaging |
Het |
| Or5m12 |
C |
T |
2: 85,735,092 (GRCm39) |
C102Y |
possibly damaging |
Het |
| Pde6c |
T |
A |
19: 38,121,599 (GRCm39) |
M69K |
probably benign |
Het |
| Pde7b |
T |
C |
10: 20,423,823 (GRCm39) |
T18A |
probably benign |
Het |
| Plcz1 |
T |
C |
6: 139,953,474 (GRCm39) |
K381R |
probably benign |
Het |
| Ppfia4 |
A |
C |
1: 134,228,252 (GRCm39) |
F1095V |
probably damaging |
Het |
| Sfxn3 |
T |
C |
19: 45,038,254 (GRCm39) |
F78S |
probably damaging |
Het |
| Sim1 |
A |
T |
10: 50,857,420 (GRCm39) |
Y390F |
probably benign |
Het |
| Slc25a31 |
A |
G |
3: 40,675,975 (GRCm39) |
I174V |
probably benign |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Slco1b2 |
T |
G |
6: 141,602,469 (GRCm39) |
|
probably benign |
Het |
| Smarca5 |
C |
A |
8: 81,431,326 (GRCm39) |
D964Y |
possibly damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,779,458 (GRCm39) |
S338R |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,137,719 (GRCm39) |
V1023A |
possibly damaging |
Het |
| Syt16 |
A |
G |
12: 74,176,269 (GRCm39) |
E46G |
probably damaging |
Het |
| Tas2r114 |
A |
T |
6: 131,666,758 (GRCm39) |
I90K |
probably damaging |
Het |
| Tlx1 |
G |
T |
19: 45,139,418 (GRCm39) |
D22Y |
probably damaging |
Het |
| Vamp8 |
G |
A |
6: 72,362,522 (GRCm39) |
L93F |
possibly damaging |
Het |
| Vill |
T |
C |
9: 118,892,409 (GRCm39) |
S347P |
possibly damaging |
Het |
| Zfp974 |
A |
G |
7: 27,610,244 (GRCm39) |
Y494H |
possibly damaging |
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 |
159,072,242 (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 |
|
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'- CCCAATTGGCCTTTACATAACTTTTAG -3'
(R):5'- CCAGTAGGAAACAGCATTCTTTAAG -3'
Sequencing Primer
(F):5'- ACATAACTTTTAGAAGATTTTCCCCC -3'
(R):5'- CCTGGAAATACAGCTAAAGG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation