Incidental Mutation 'R6386:Cop1'
| ID |
515588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cop1
|
| Ensembl Gene |
ENSMUSG00000040782 |
| Gene Name |
COP1, E3 ubiquitin ligase |
| Synonyms |
Rfwd2, Cop1 |
| MMRRC Submission |
044535-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R6386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
159059890-159175210 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 159116601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 125
(I125T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076894]
[ENSMUST00000192215]
[ENSMUST00000195044]
|
| AlphaFold |
Q9R1A8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076894
AA Change: I425T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076160
Gene: ENSMUSG00000040782
AA Change: I425T
| 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: ENSMUST00000192215
|
| SMART Domains |
Protein: ENSMUSP00000141285
Gene: ENSMUSG00000040782
| 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: I215T
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195044
AA Change: I125T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141200
Gene: ENSMUSG00000040782
AA Change: I125T
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
112 |
151 |
1.1e-2 |
SMART |
|
WD40
|
162 |
201 |
2.1e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.5851 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.6%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak6 |
TGACGA |
TGA |
13: 100,792,311 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,761,865 (GRCm39) |
N1620K |
possibly damaging |
Het |
| Atf6b |
T |
C |
17: 34,870,825 (GRCm39) |
S396P |
probably damaging |
Het |
| Cc2d1a |
A |
G |
8: 84,865,166 (GRCm39) |
M469T |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,892,144 (GRCm39) |
N296D |
probably benign |
Het |
| Cep57l1 |
A |
T |
10: 41,619,128 (GRCm39) |
S80T |
probably damaging |
Het |
| Clip4 |
C |
A |
17: 72,141,189 (GRCm39) |
Y514* |
probably null |
Het |
| Cstf1 |
T |
C |
2: 172,219,816 (GRCm39) |
V309A |
probably damaging |
Het |
| Cyp4a29 |
T |
G |
4: 115,104,272 (GRCm39) |
|
probably null |
Het |
| F830045P16Rik |
G |
A |
2: 129,314,738 (GRCm39) |
H180Y |
probably damaging |
Het |
| Foxp4 |
T |
C |
17: 48,189,387 (GRCm39) |
K237E |
unknown |
Het |
| Fstl5 |
A |
T |
3: 76,229,373 (GRCm39) |
H58L |
probably benign |
Het |
| Gje1 |
A |
G |
10: 14,592,365 (GRCm39) |
F139S |
probably damaging |
Het |
| Gpatch1 |
T |
C |
7: 34,991,265 (GRCm39) |
D593G |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
| Mtch2 |
A |
G |
2: 90,679,739 (GRCm39) |
T38A |
probably benign |
Het |
| Mvb12b |
A |
T |
2: 33,717,754 (GRCm39) |
I129N |
probably damaging |
Het |
| Npffr2 |
T |
C |
5: 89,730,556 (GRCm39) |
V162A |
probably benign |
Het |
| Or4d10b |
A |
T |
19: 12,036,920 (GRCm39) |
N65K |
probably damaging |
Het |
| Or5p61 |
A |
T |
7: 107,758,409 (GRCm39) |
Y224N |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,621,244 (GRCm39) |
R805C |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,559,364 (GRCm39) |
L406P |
probably damaging |
Het |
| Prl3d2 |
A |
G |
13: 27,311,286 (GRCm39) |
D186G |
probably damaging |
Het |
| Rfc5 |
T |
C |
5: 117,523,463 (GRCm39) |
T112A |
probably benign |
Het |
| Rnf148 |
A |
G |
6: 23,654,483 (GRCm39) |
L171P |
probably damaging |
Het |
| Rps24 |
G |
A |
14: 24,542,116 (GRCm39) |
G71S |
possibly damaging |
Het |
| Slco2a1 |
G |
A |
9: 102,954,187 (GRCm39) |
V453I |
probably benign |
Het |
| Spidr |
T |
C |
16: 15,786,424 (GRCm39) |
K440E |
probably benign |
Het |
| Syndig1 |
C |
A |
2: 149,741,496 (GRCm39) |
N27K |
probably damaging |
Het |
| Tmem62 |
C |
T |
2: 120,829,595 (GRCm39) |
T316I |
probably benign |
Het |
| Tpgs2 |
A |
T |
18: 25,272,081 (GRCm39) |
I258N |
possibly damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,571,545 (GRCm39) |
R452* |
probably null |
Het |
| Wasf3 |
A |
T |
5: 146,390,227 (GRCm39) |
I124F |
possibly damaging |
Het |
| Wbp11 |
T |
C |
6: 136,797,523 (GRCm39) |
T299A |
probably benign |
Het |
| Wdr25 |
T |
C |
12: 108,990,991 (GRCm39) |
S41P |
probably damaging |
Het |
| Zfp874b |
T |
C |
13: 67,622,962 (GRCm39) |
D116G |
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 |
|
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 |
|
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'- GATGTTTCAGTGAATTCCTAGACC -3'
(R):5'- AGAAACTGCCACCTCCTGTC -3'
Sequencing Primer
(F):5'- TCACCTAATTAATTTGAGCATACTGC -3'
(R):5'- ACCTCCTGTCAGATGGATGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation