Incidental Mutation 'R2296:Cop1'
| ID |
245167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cop1
|
| Ensembl Gene |
ENSMUSG00000040782 |
| Gene Name |
COP1, E3 ubiquitin ligase |
| Synonyms |
Rfwd2, Cop1 |
| MMRRC Submission |
040295-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R2296 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
159059890-159175210 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 159072220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 109
(V109M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076894]
[ENSMUST00000192215]
[ENSMUST00000195800]
|
| AlphaFold |
Q9R1A8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076894
AA Change: V179M
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000076160
Gene: ENSMUSG00000040782
AA Change: V179M
| 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 |
possibly damaging
Transcript: ENSMUST00000192215
AA Change: V109M
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141285
Gene: ENSMUSG00000040782
AA Change: V109M
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
G |
1: 11,582,275 (GRCm39) |
E68G |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,044,879 (GRCm39) |
D820G |
probably damaging |
Het |
| Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
| Calr3 |
C |
T |
8: 73,178,469 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,299,492 (GRCm39) |
L344P |
probably damaging |
Het |
| Dennd4b |
T |
A |
3: 90,182,821 (GRCm39) |
N879K |
probably damaging |
Het |
| Fam13b |
T |
C |
18: 34,627,814 (GRCm39) |
D129G |
possibly damaging |
Het |
| Fam222a |
C |
A |
5: 114,749,027 (GRCm39) |
H74Q |
possibly damaging |
Het |
| Gata5 |
A |
G |
2: 179,970,113 (GRCm39) |
M278T |
possibly damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Iigp1c |
T |
A |
18: 60,378,542 (GRCm39) |
C26S |
probably benign |
Het |
| Inpp5k |
T |
G |
11: 75,530,313 (GRCm39) |
L251R |
probably damaging |
Het |
| Lrrc36 |
T |
G |
8: 106,187,651 (GRCm39) |
D522E |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nras |
T |
A |
3: 102,966,350 (GRCm39) |
|
probably null |
Het |
| Nudt12 |
A |
G |
17: 59,317,044 (GRCm39) |
V201A |
possibly damaging |
Het |
| Phf2 |
T |
C |
13: 48,988,754 (GRCm39) |
E39G |
unknown |
Het |
| Serpinb3a |
A |
T |
1: 106,975,291 (GRCm39) |
V172D |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Trim3 |
A |
G |
7: 105,262,481 (GRCm39) |
I559T |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,039,728 (GRCm39) |
S1304T |
possibly damaging |
Het |
| Xrcc5 |
A |
T |
1: 72,385,485 (GRCm39) |
K525N |
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,583,467 (GRCm39) |
V705D |
probably 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 |
|
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'- GACCATAGGCATTTGCTTTCC -3'
(R):5'- TATGCCATAGCCCAAGAAGATG -3'
Sequencing Primer
(F):5'- AAAACTTAGTCCCCATTCACATTTC -3'
(R):5'- ATGAAAGCGCCCTGGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation