Incidental Mutation 'IGL01360:Copa'
| ID |
75720 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Copa
|
| Ensembl Gene |
ENSMUSG00000026553 |
| Gene Name |
coatomer protein complex subunit alpha |
| Synonyms |
xenin |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
IGL01360
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
171910096-171949897 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 171915155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003550]
[ENSMUST00000027833]
[ENSMUST00000124289]
[ENSMUST00000135192]
[ENSMUST00000140643]
[ENSMUST00000146137]
|
| AlphaFold |
Q8CIE6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003550
|
| SMART Domains |
Protein: ENSMUSP00000003550
Gene: ENSMUSG00000003458
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M28
|
254 |
468 |
2.9e-7 |
PFAM |
|
Pfam:Nicastrin
|
273 |
498 |
1.6e-94 |
PFAM |
|
transmembrane domain
|
669 |
691 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027833
AA Change: T26N
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: T26N
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
37 |
2.86e0 |
SMART |
|
WD40
|
40 |
79 |
1.11e-6 |
SMART |
|
WD40
|
82 |
121 |
4.76e-6 |
SMART |
|
WD40
|
124 |
163 |
2.24e-11 |
SMART |
|
WD40
|
194 |
233 |
2.98e-7 |
SMART |
|
WD40
|
238 |
277 |
8.42e-7 |
SMART |
|
WD40
|
280 |
318 |
1.38e1 |
SMART |
|
Pfam:Coatomer_WDAD
|
338 |
776 |
5.4e-144 |
PFAM |
|
Pfam:COPI_C
|
824 |
1233 |
1.4e-190 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124289
AA Change: T26N
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118899
Gene: ENSMUSG00000026553
AA Change: T26N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
1 |
37 |
2e-19 |
BLAST |
|
PDB:4J8G|B
|
1 |
52 |
2e-23 |
PDB |
|
SCOP:d1erja_
|
1 |
52 |
1e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135192
AA Change: T26N
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: T26N
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
37 |
2.86e0 |
SMART |
|
WD40
|
40 |
79 |
1.11e-6 |
SMART |
|
WD40
|
82 |
121 |
4.76e-6 |
SMART |
|
WD40
|
124 |
163 |
2.24e-11 |
SMART |
|
WD40
|
194 |
233 |
2.98e-7 |
SMART |
|
WD40
|
238 |
277 |
8.42e-7 |
SMART |
|
WD40
|
280 |
318 |
1.38e1 |
SMART |
|
Pfam:Coatomer_WDAD
|
338 |
767 |
1.1e-148 |
PFAM |
|
Pfam:COPI_C
|
815 |
1224 |
3.6e-216 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138407
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140643
|
| SMART Domains |
Protein: ENSMUSP00000119128
Gene: ENSMUSG00000003458
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142825
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146137
|
| SMART Domains |
Protein: ENSMUSP00000120663
Gene: ENSMUSG00000003458
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(6) : Gene trapped(6)
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,325,648 (GRCm39) |
I1517L |
possibly damaging |
Het |
| Akap12 |
A |
T |
10: 4,307,537 (GRCm39) |
D1449V |
probably benign |
Het |
| Alg6 |
T |
A |
4: 99,630,643 (GRCm39) |
Y161N |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 79,864,482 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
A |
T |
12: 52,565,023 (GRCm39) |
I665F |
probably damaging |
Het |
| Bbs4 |
A |
G |
9: 59,247,131 (GRCm39) |
V123A |
possibly damaging |
Het |
| Carm1 |
C |
T |
9: 21,498,598 (GRCm39) |
T480I |
probably benign |
Het |
| Catsperb |
G |
A |
12: 101,591,513 (GRCm39) |
V1032M |
probably damaging |
Het |
| Cdc42bpb |
A |
C |
12: 111,308,509 (GRCm39) |
I101S |
probably damaging |
Het |
| Cramp1 |
T |
C |
17: 25,216,547 (GRCm39) |
I189V |
probably damaging |
Het |
| Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
| Egf |
A |
T |
3: 129,533,669 (GRCm39) |
F57Y |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,534,333 (GRCm39) |
I1168T |
probably benign |
Het |
| Gm14178 |
A |
G |
11: 99,638,269 (GRCm39) |
S37P |
unknown |
Het |
| Gpbp1 |
A |
T |
13: 111,563,075 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,390,981 (GRCm39) |
S3980P |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,617,670 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
T |
C |
11: 115,881,766 (GRCm39) |
S772P |
probably damaging |
Het |
| Kcng4 |
C |
A |
8: 120,352,416 (GRCm39) |
G498V |
probably benign |
Het |
| Lrp1 |
T |
G |
10: 127,381,689 (GRCm39) |
D3795A |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,584,772 (GRCm39) |
|
probably null |
Het |
| Mettl25 |
A |
T |
10: 105,659,058 (GRCm39) |
H408Q |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,307,505 (GRCm39) |
E457G |
probably damaging |
Het |
| Mpl |
G |
A |
4: 118,312,858 (GRCm39) |
T158I |
possibly damaging |
Het |
| Mtg2 |
C |
T |
2: 179,725,870 (GRCm39) |
T160I |
probably damaging |
Het |
| Mtif2 |
A |
G |
11: 29,480,110 (GRCm39) |
I59V |
probably benign |
Het |
| Ncapg |
C |
A |
5: 45,831,727 (GRCm39) |
S191* |
probably null |
Het |
| Nup214 |
T |
C |
2: 31,928,190 (GRCm39) |
|
probably benign |
Het |
| Or9m1 |
T |
C |
2: 87,733,871 (GRCm39) |
T50A |
probably benign |
Het |
| Phf3 |
T |
A |
1: 30,847,809 (GRCm39) |
T1245S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,250,770 (GRCm39) |
D443G |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,797,665 (GRCm39) |
D21V |
possibly damaging |
Het |
| Ptchd4 |
C |
A |
17: 42,627,936 (GRCm39) |
H132Q |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,455,481 (GRCm39) |
|
probably benign |
Het |
| Slc30a7 |
A |
T |
3: 115,783,765 (GRCm39) |
V136E |
probably damaging |
Het |
| Slc5a10 |
A |
G |
11: 61,605,962 (GRCm39) |
V116A |
probably damaging |
Het |
| Sos2 |
A |
T |
12: 69,637,574 (GRCm39) |
S1046T |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,116,554 (GRCm39) |
S899P |
possibly damaging |
Het |
| Tfr2 |
G |
A |
5: 137,569,953 (GRCm39) |
V120I |
probably benign |
Het |
| Tnfrsf18 |
A |
T |
4: 156,112,493 (GRCm39) |
R117* |
probably null |
Het |
| Trmt9b |
A |
G |
8: 36,979,713 (GRCm39) |
I439V |
probably benign |
Het |
| Vmn1r77 |
T |
G |
7: 11,775,315 (GRCm39) |
F30L |
probably benign |
Het |
| Vmn2r112 |
T |
C |
17: 22,837,603 (GRCm39) |
M688T |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,510 (GRCm39) |
D389E |
possibly damaging |
Het |
| Zpld1 |
T |
G |
16: 55,046,748 (GRCm39) |
N407T |
probably benign |
Het |
| Zranb3 |
C |
T |
1: 127,887,622 (GRCm39) |
W935* |
probably null |
Het |
| Zyx |
G |
A |
6: 42,327,378 (GRCm39) |
R59Q |
probably damaging |
Het |
|
| Other mutations in Copa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Copa
|
APN |
1 |
171,938,255 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01434:Copa
|
APN |
1 |
171,947,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01744:Copa
|
APN |
1 |
171,940,756 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01837:Copa
|
APN |
1 |
171,946,419 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01988:Copa
|
APN |
1 |
171,945,831 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02059:Copa
|
APN |
1 |
171,927,320 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02123:Copa
|
APN |
1 |
171,939,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02731:Copa
|
APN |
1 |
171,929,785 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03114:Copa
|
APN |
1 |
171,946,835 (GRCm39) |
nonsense |
probably null |
|
|
P0027:Copa
|
UTSW |
1 |
171,939,515 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
PIT4434001:Copa
|
UTSW |
1 |
171,933,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0233:Copa
|
UTSW |
1 |
171,915,234 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0465:Copa
|
UTSW |
1 |
171,945,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0547:Copa
|
UTSW |
1 |
171,949,254 (GRCm39) |
splice site |
probably benign |
|
|
R0568:Copa
|
UTSW |
1 |
171,939,704 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0628:Copa
|
UTSW |
1 |
171,918,592 (GRCm39) |
splice site |
probably benign |
|
|
R1328:Copa
|
UTSW |
1 |
171,949,258 (GRCm39) |
splice site |
probably benign |
|
|
R1494:Copa
|
UTSW |
1 |
171,931,694 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1728:Copa
|
UTSW |
1 |
171,939,554 (GRCm39) |
missense |
probably benign |
|
|
R1758:Copa
|
UTSW |
1 |
171,931,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Copa
|
UTSW |
1 |
171,939,554 (GRCm39) |
missense |
probably benign |
|
|
R1942:Copa
|
UTSW |
1 |
171,939,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2054:Copa
|
UTSW |
1 |
171,946,524 (GRCm39) |
nonsense |
probably null |
|
|
R2299:Copa
|
UTSW |
1 |
171,949,292 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2518:Copa
|
UTSW |
1 |
171,947,468 (GRCm39) |
missense |
probably benign |
|
|
R2680:Copa
|
UTSW |
1 |
171,948,971 (GRCm39) |
nonsense |
probably null |
|
|
R3080:Copa
|
UTSW |
1 |
171,940,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Copa
|
UTSW |
1 |
171,918,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Copa
|
UTSW |
1 |
171,918,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Copa
|
UTSW |
1 |
171,918,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Copa
|
UTSW |
1 |
171,918,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3973:Copa
|
UTSW |
1 |
171,948,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3975:Copa
|
UTSW |
1 |
171,948,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4031:Copa
|
UTSW |
1 |
171,935,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4155:Copa
|
UTSW |
1 |
171,928,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4227:Copa
|
UTSW |
1 |
171,945,682 (GRCm39) |
intron |
probably benign |
|
|
R4244:Copa
|
UTSW |
1 |
171,938,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4254:Copa
|
UTSW |
1 |
171,929,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Copa
|
UTSW |
1 |
171,919,964 (GRCm39) |
intron |
probably benign |
|
|
R4323:Copa
|
UTSW |
1 |
171,946,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4402:Copa
|
UTSW |
1 |
171,929,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4711:Copa
|
UTSW |
1 |
171,947,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Copa
|
UTSW |
1 |
171,931,841 (GRCm39) |
splice site |
probably benign |
|
|
R4773:Copa
|
UTSW |
1 |
171,932,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4794:Copa
|
UTSW |
1 |
171,946,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Copa
|
UTSW |
1 |
171,919,843 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4953:Copa
|
UTSW |
1 |
171,910,453 (GRCm39) |
unclassified |
probably benign |
|
|
R5139:Copa
|
UTSW |
1 |
171,948,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5152:Copa
|
UTSW |
1 |
171,945,628 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5297:Copa
|
UTSW |
1 |
171,940,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Copa
|
UTSW |
1 |
171,932,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Copa
|
UTSW |
1 |
171,946,511 (GRCm39) |
nonsense |
probably null |
|
|
R6283:Copa
|
UTSW |
1 |
171,946,415 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6921:Copa
|
UTSW |
1 |
171,939,491 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6934:Copa
|
UTSW |
1 |
171,938,253 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7009:Copa
|
UTSW |
1 |
171,918,567 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7194:Copa
|
UTSW |
1 |
171,947,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7348:Copa
|
UTSW |
1 |
171,929,790 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7710:Copa
|
UTSW |
1 |
171,937,411 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7745:Copa
|
UTSW |
1 |
171,939,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Copa
|
UTSW |
1 |
171,947,132 (GRCm39) |
nonsense |
probably null |
|
|
R8168:Copa
|
UTSW |
1 |
171,927,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8273:Copa
|
UTSW |
1 |
171,946,546 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8704:Copa
|
UTSW |
1 |
171,931,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8754:Copa
|
UTSW |
1 |
171,935,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8757:Copa
|
UTSW |
1 |
171,947,081 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8759:Copa
|
UTSW |
1 |
171,947,081 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8885:Copa
|
UTSW |
1 |
171,925,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8891:Copa
|
UTSW |
1 |
171,946,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Copa
|
UTSW |
1 |
171,931,737 (GRCm39) |
missense |
probably null |
0.03 |
|
R8928:Copa
|
UTSW |
1 |
171,931,737 (GRCm39) |
missense |
probably null |
0.03 |
|
R8956:Copa
|
UTSW |
1 |
171,937,480 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9063:Copa
|
UTSW |
1 |
171,944,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9295:Copa
|
UTSW |
1 |
171,939,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9364:Copa
|
UTSW |
1 |
171,944,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9437:Copa
|
UTSW |
1 |
171,931,712 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9673:Copa
|
UTSW |
1 |
171,945,648 (GRCm39) |
missense |
probably benign |
0.11 |
|
T0722:Copa
|
UTSW |
1 |
171,939,515 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1177:Copa
|
UTSW |
1 |
171,933,690 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation