Incidental Mutation 'R8495:Cop1'
| ID |
658213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cop1
|
| Ensembl Gene |
ENSMUSG00000040782 |
| Gene Name |
COP1, E3 ubiquitin ligase |
| Synonyms |
Rfwd2, Cop1 |
| MMRRC Submission |
067937-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R8495 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
159059890-159175210 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 159077600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 145
(H145L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076894]
[ENSMUST00000192215]
[ENSMUST00000195800]
|
| AlphaFold |
Q9R1A8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076894
AA Change: H219L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000076160
Gene: ENSMUSG00000040782
AA Change: H219L
| 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
AA Change: H145L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000141285
Gene: ENSMUSG00000040782
AA Change: H145L
| 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (38/39) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730480H06Rik |
A |
G |
5: 48,536,699 (GRCm39) |
T132A |
possibly damaging |
Het |
| Abcb1b |
T |
G |
5: 8,915,865 (GRCm39) |
V1249G |
probably damaging |
Het |
| Cdc5l |
A |
G |
17: 45,737,449 (GRCm39) |
L103P |
probably damaging |
Het |
| Clrn2 |
G |
T |
5: 45,617,485 (GRCm39) |
A119S |
possibly damaging |
Het |
| Cyp4f13 |
G |
C |
17: 33,143,833 (GRCm39) |
P497R |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,794,161 (GRCm39) |
E660G |
probably damaging |
Het |
| Dhx34 |
T |
C |
7: 15,952,472 (GRCm39) |
Y51C |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,409,414 (GRCm39) |
I3611V |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,181,622 (GRCm39) |
L1647Q |
probably benign |
Het |
| Dpy19l4 |
G |
A |
4: 11,267,659 (GRCm39) |
T427M |
probably benign |
Het |
| Eef2k |
T |
C |
7: 120,487,103 (GRCm39) |
L417P |
probably benign |
Het |
| Eng |
A |
G |
2: 32,568,906 (GRCm39) |
S477G |
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,870,012 (GRCm39) |
I424T |
probably benign |
Het |
| Faim2 |
A |
G |
15: 99,408,473 (GRCm39) |
V253A |
probably benign |
Het |
| Farp2 |
A |
G |
1: 93,531,139 (GRCm39) |
I546V |
possibly damaging |
Het |
| Fcgbp |
T |
G |
7: 27,785,978 (GRCm39) |
Y472D |
probably damaging |
Het |
| Gm43302 |
A |
T |
5: 105,424,570 (GRCm39) |
C357S |
possibly damaging |
Het |
| Gm47189 |
T |
C |
14: 41,492,053 (GRCm39) |
T75A |
probably damaging |
Het |
| Mms22l |
A |
G |
4: 24,496,908 (GRCm39) |
M1V |
probably null |
Het |
| Myo3a |
A |
T |
2: 22,401,084 (GRCm39) |
I618F |
probably damaging |
Het |
| Nqo2 |
T |
C |
13: 34,165,477 (GRCm39) |
F125L |
probably damaging |
Het |
| Or10q1 |
T |
A |
19: 13,726,593 (GRCm39) |
M41K |
possibly damaging |
Het |
| Pdcd6ip |
G |
A |
9: 113,518,775 (GRCm39) |
H162Y |
probably benign |
Het |
| Potefam1 |
C |
T |
2: 111,059,755 (GRCm39) |
M1I |
probably null |
Het |
| Potegl |
A |
G |
2: 23,097,852 (GRCm39) |
E10G |
probably benign |
Het |
| Rad9b |
T |
C |
5: 122,471,096 (GRCm39) |
|
probably null |
Het |
| Robo3 |
A |
G |
9: 37,336,664 (GRCm39) |
F368S |
probably damaging |
Het |
| Rsph4a |
G |
A |
10: 33,781,488 (GRCm39) |
A113T |
probably benign |
Het |
| Smc2 |
A |
T |
4: 52,450,992 (GRCm39) |
N270I |
probably benign |
Het |
| Son |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,183 (GRCm39) |
|
probably benign |
Het |
| Spsb4 |
A |
G |
9: 96,877,622 (GRCm39) |
|
probably null |
Het |
| Spta1 |
G |
A |
1: 174,043,051 (GRCm39) |
R1399Q |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,877,790 (GRCm39) |
D749G |
probably damaging |
Het |
| Tas2r115 |
A |
T |
6: 132,714,887 (GRCm39) |
N21K |
probably damaging |
Het |
| Tbkbp1 |
A |
G |
11: 97,037,429 (GRCm39) |
V221A |
probably benign |
Het |
| Tln2 |
G |
T |
9: 67,261,749 (GRCm39) |
N663K |
probably benign |
Het |
| Tmprss11g |
A |
T |
5: 86,640,119 (GRCm39) |
I170K |
probably benign |
Het |
| Tnfrsf21 |
G |
A |
17: 43,349,128 (GRCm39) |
E247K |
probably benign |
Het |
| Trim23 |
T |
C |
13: 104,337,817 (GRCm39) |
Y522H |
probably benign |
Het |
| Vmn1r204 |
G |
A |
13: 22,740,879 (GRCm39) |
C170Y |
probably damaging |
Het |
| Vwa8 |
G |
T |
14: 79,174,617 (GRCm39) |
E349* |
probably null |
Het |
| Xpo7 |
A |
G |
14: 70,907,989 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CCCAAACTATTGAGACAAGTGAGC -3'
(R):5'- GGGCCAGAGAAATGCCTTTTC -3'
Sequencing Primer
(F):5'- CCGCAAGACAGAAAATATTGGTG -3'
(R):5'- GGGCCAGAGAAATGCCTTTTCATATG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation