Incidental Mutation 'IGL02945:Cop1'
| ID |
364702 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cop1
|
| Ensembl Gene |
ENSMUSG00000040782 |
| Gene Name |
COP1, E3 ubiquitin ligase |
| Synonyms |
Rfwd2, Cop1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
IGL02945
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
159059890-159175210 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 159134259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 167
(N167I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076894]
[ENSMUST00000195044]
|
| AlphaFold |
Q9R1A8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076894
AA Change: N467I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000076160
Gene: ENSMUSG00000040782
AA Change: N467I
| 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 |
unknown
Transcript: ENSMUST00000192044
AA Change: N14I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192762
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194798
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195044
AA Change: N167I
PolyPhen 2
Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141200
Gene: ENSMUSG00000040782
AA Change: N167I
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
112 |
151 |
1.1e-2 |
SMART |
|
WD40
|
162 |
201 |
2.1e-4 |
SMART |
|
| Coding Region Coverage |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411G06Rik |
A |
T |
10: 51,633,095 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrf4 |
T |
C |
17: 42,978,257 (GRCm39) |
Q362R |
probably benign |
Het |
| Akap6 |
A |
G |
12: 52,927,620 (GRCm39) |
N177D |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,597,915 (GRCm39) |
I914V |
probably damaging |
Het |
| Arhgap11a |
A |
T |
2: 113,667,818 (GRCm39) |
S394R |
possibly damaging |
Het |
| Cacna1h |
C |
T |
17: 25,607,033 (GRCm39) |
V962I |
probably damaging |
Het |
| Calr3 |
A |
T |
8: 73,192,401 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ccnf |
T |
C |
17: 24,443,890 (GRCm39) |
E626G |
probably damaging |
Het |
| Clec10a |
A |
T |
11: 70,061,368 (GRCm39) |
I295F |
possibly damaging |
Het |
| Csmd1 |
G |
T |
8: 16,321,584 (GRCm39) |
Q505K |
possibly damaging |
Het |
| Ctrc |
A |
C |
4: 141,573,563 (GRCm39) |
V6G |
possibly damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,875,091 (GRCm39) |
R21G |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,270,572 (GRCm39) |
H958R |
probably benign |
Het |
| Egfr |
T |
A |
11: 16,702,514 (GRCm39) |
L11Q |
probably damaging |
Het |
| Erich2 |
A |
G |
2: 70,364,738 (GRCm39) |
T371A |
probably damaging |
Het |
| Fbxl21 |
T |
A |
13: 56,674,983 (GRCm39) |
F111L |
probably damaging |
Het |
| Grik4 |
G |
T |
9: 42,509,175 (GRCm39) |
T416N |
possibly damaging |
Het |
| Grin3a |
A |
G |
4: 49,792,971 (GRCm39) |
V254A |
possibly damaging |
Het |
| Hat1 |
G |
A |
2: 71,251,037 (GRCm39) |
R195K |
probably benign |
Het |
| Hmgb4 |
A |
C |
4: 128,154,387 (GRCm39) |
Y60* |
probably null |
Het |
| Ighv12-3 |
A |
G |
12: 114,330,337 (GRCm39) |
W53R |
probably damaging |
Het |
| Irs2 |
C |
A |
8: 11,057,781 (GRCm39) |
C217F |
probably damaging |
Het |
| Kcnb1 |
T |
C |
2: 167,030,308 (GRCm39) |
E79G |
probably benign |
Het |
| Lingo3 |
A |
G |
10: 80,670,532 (GRCm39) |
I466T |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,935,783 (GRCm39) |
S3665P |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,646,205 (GRCm39) |
L1926Q |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,399,088 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,245,569 (GRCm39) |
F198L |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,557,697 (GRCm39) |
T63A |
probably damaging |
Het |
| Nle1 |
A |
T |
11: 82,794,910 (GRCm39) |
|
probably benign |
Het |
| Nr3c2 |
A |
T |
8: 77,636,288 (GRCm39) |
D463V |
probably damaging |
Het |
| Or5k17 |
A |
T |
16: 58,746,703 (GRCm39) |
I77N |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,812 (GRCm39) |
I215V |
probably benign |
Het |
| Pcdhb18 |
T |
C |
18: 37,623,048 (GRCm39) |
I126T |
probably benign |
Het |
| Pgm1 |
A |
G |
4: 99,818,731 (GRCm39) |
I127V |
probably benign |
Het |
| Rai14 |
A |
G |
15: 10,574,795 (GRCm39) |
I721T |
probably benign |
Het |
| Rps6ka1 |
A |
G |
4: 133,594,510 (GRCm39) |
Y57H |
probably damaging |
Het |
| Scara3 |
T |
A |
14: 66,168,660 (GRCm39) |
D319V |
probably damaging |
Het |
| Selp |
G |
A |
1: 163,961,498 (GRCm39) |
G404S |
probably damaging |
Het |
| Serinc3 |
A |
G |
2: 163,472,836 (GRCm39) |
|
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,705,080 (GRCm39) |
|
probably null |
Het |
| Spen |
G |
T |
4: 141,221,624 (GRCm39) |
L325I |
unknown |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,315,970 (GRCm39) |
S326R |
possibly damaging |
Het |
| Tmem255b |
T |
C |
8: 13,505,141 (GRCm39) |
S149P |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,743,075 (GRCm39) |
S95T |
possibly damaging |
Het |
| Trim66 |
G |
A |
7: 109,059,383 (GRCm39) |
Q954* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,582,316 (GRCm39) |
I22859N |
probably damaging |
Het |
| Zfp319 |
A |
T |
8: 96,050,446 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation