Incidental Mutation 'IGL02696:Cope'
| ID |
303956 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cope
|
| Ensembl Gene |
ENSMUSG00000055681 |
| Gene Name |
coatomer protein complex, subunit epsilon |
| Synonyms |
1110005D17Rik, Cope1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL02696
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70755417-70765652 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 70763143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066469]
[ENSMUST00000128003]
[ENSMUST00000150968]
[ENSMUST00000168018]
|
| AlphaFold |
O89079 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000066469
|
| SMART Domains |
Protein: ENSMUSP00000071078
Gene: ENSMUSG00000055681
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:Coatomer_E
|
15 |
305 |
2.8e-134 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128003
|
| SMART Domains |
Protein: ENSMUSP00000122888
Gene: ENSMUSG00000055681
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Coatomer_E
|
1 |
212 |
5.4e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140363
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150968
|
| SMART Domains |
Protein: ENSMUSP00000119055
Gene: ENSMUSG00000055681
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:Coatomer_E
|
15 |
227 |
6.5e-86 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167850
|
| SMART Domains |
Protein: ENSMUSP00000132976
Gene: ENSMUSG00000055681
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Coatomer_E
|
1 |
79 |
5.4e-38 |
PFAM |
|
Pfam:Coatomer_E
|
75 |
113 |
3.7e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168018
|
| SMART Domains |
Protein: ENSMUSP00000130416
Gene: ENSMUSG00000055681
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:Coatomer_E
|
15 |
79 |
4.5e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
G |
14: 29,704,628 (GRCm39) |
T43A |
probably benign |
Het |
| Adgrd1 |
T |
C |
5: 129,217,918 (GRCm39) |
|
probably benign |
Het |
| Asxl1 |
T |
A |
2: 153,242,115 (GRCm39) |
Y888* |
probably null |
Het |
| Atp8b5 |
T |
C |
4: 43,369,634 (GRCm39) |
V924A |
possibly damaging |
Het |
| AU040320 |
T |
C |
4: 126,736,380 (GRCm39) |
L821P |
probably damaging |
Het |
| Capn11 |
T |
C |
17: 45,943,635 (GRCm39) |
N596S |
probably damaging |
Het |
| Cnot1 |
C |
A |
8: 96,471,645 (GRCm39) |
V1219F |
probably benign |
Het |
| Crim1 |
A |
G |
17: 78,587,402 (GRCm39) |
E169G |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,533,065 (GRCm39) |
F2395I |
probably benign |
Het |
| Ctso |
A |
C |
3: 81,858,691 (GRCm39) |
D220A |
possibly damaging |
Het |
| Cttnbp2 |
G |
A |
6: 18,434,128 (GRCm39) |
P577S |
probably benign |
Het |
| D930048N14Rik |
T |
A |
11: 51,544,821 (GRCm39) |
|
probably benign |
Het |
| Dck |
T |
A |
5: 88,920,666 (GRCm39) |
S129T |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,041,326 (GRCm39) |
V1301A |
possibly damaging |
Het |
| Dusp16 |
G |
A |
6: 134,695,398 (GRCm39) |
R478C |
probably damaging |
Het |
| Ermap |
C |
T |
4: 119,044,904 (GRCm39) |
R49K |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,446,697 (GRCm39) |
K969R |
probably damaging |
Het |
| Gjb2 |
A |
T |
14: 57,337,769 (GRCm39) |
F146L |
probably damaging |
Het |
| Hdc |
A |
T |
2: 126,436,220 (GRCm39) |
D550E |
probably damaging |
Het |
| Hs6st3 |
A |
T |
14: 120,106,731 (GRCm39) |
I380F |
probably damaging |
Het |
| Htr1d |
T |
C |
4: 136,170,722 (GRCm39) |
V317A |
probably benign |
Het |
| Kalrn |
A |
T |
16: 34,040,484 (GRCm39) |
M963K |
probably damaging |
Het |
| Kl |
T |
A |
5: 150,904,450 (GRCm39) |
S401T |
probably benign |
Het |
| Lair1 |
A |
G |
7: 4,013,848 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
C |
T |
19: 3,652,253 (GRCm39) |
V1206I |
probably benign |
Het |
| Matn4 |
A |
G |
2: 164,238,758 (GRCm39) |
F343S |
probably benign |
Het |
| Mrgpra4 |
G |
T |
7: 47,631,251 (GRCm39) |
R117S |
possibly damaging |
Het |
| Myh14 |
T |
C |
7: 44,314,530 (GRCm39) |
Y131C |
probably damaging |
Het |
| Nap1l4 |
A |
T |
7: 143,077,898 (GRCm39) |
N345K |
possibly damaging |
Het |
| Oas1c |
T |
C |
5: 120,943,528 (GRCm39) |
R204G |
probably benign |
Het |
| Or52e4 |
A |
G |
7: 104,705,569 (GRCm39) |
T39A |
probably benign |
Het |
| Or8k25 |
T |
A |
2: 86,243,959 (GRCm39) |
T146S |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,854,663 (GRCm39) |
D58E |
probably damaging |
Het |
| Pin1 |
G |
A |
9: 20,574,531 (GRCm39) |
G150E |
probably benign |
Het |
| R3hdm2 |
T |
C |
10: 127,300,888 (GRCm39) |
|
probably null |
Het |
| Rai1 |
C |
A |
11: 60,084,782 (GRCm39) |
H1843Q |
probably benign |
Het |
| Siae |
G |
T |
9: 37,542,680 (GRCm39) |
A194S |
probably damaging |
Het |
| Slc6a12 |
G |
T |
6: 121,340,211 (GRCm39) |
V485L |
probably benign |
Het |
| Stil |
T |
G |
4: 114,898,692 (GRCm39) |
S1107R |
probably damaging |
Het |
| Syt16 |
T |
C |
12: 74,176,185 (GRCm39) |
V18A |
possibly damaging |
Het |
| Trpm8 |
A |
G |
1: 88,275,773 (GRCm39) |
D457G |
probably damaging |
Het |
| Tshr |
A |
T |
12: 91,460,103 (GRCm39) |
T66S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,537,639 (GRCm39) |
Q34763L |
probably benign |
Het |
| Ubr2 |
T |
A |
17: 47,274,691 (GRCm39) |
M830L |
probably benign |
Het |
| Ulk1 |
A |
G |
5: 110,940,918 (GRCm39) |
F337S |
probably damaging |
Het |
|
| Other mutations in Cope |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4431001:Cope
|
UTSW |
8 |
70,765,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0570:Cope
|
UTSW |
8 |
70,759,181 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1382:Cope
|
UTSW |
8 |
70,765,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1518:Cope
|
UTSW |
8 |
70,765,411 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4538:Cope
|
UTSW |
8 |
70,759,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Cope
|
UTSW |
8 |
70,755,584 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5106:Cope
|
UTSW |
8 |
70,763,097 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5454:Cope
|
UTSW |
8 |
70,757,306 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5764:Cope
|
UTSW |
8 |
70,759,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Cope
|
UTSW |
8 |
70,755,193 (GRCm39) |
splice site |
probably null |
|
|
R6003:Cope
|
UTSW |
8 |
70,757,285 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6010:Cope
|
UTSW |
8 |
70,761,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7074:Cope
|
UTSW |
8 |
70,765,537 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8022:Cope
|
UTSW |
8 |
70,765,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9309:Cope
|
UTSW |
8 |
70,755,482 (GRCm39) |
missense |
unknown |
|
|
R9326:Cope
|
UTSW |
8 |
70,755,516 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9341:Cope
|
UTSW |
8 |
70,761,228 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9343:Cope
|
UTSW |
8 |
70,761,228 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9501:Cope
|
UTSW |
8 |
70,765,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation