Incidental Mutation 'IGL03114:Copa'
| ID |
419312 |
| 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: 0.971)
|
| Stock # |
IGL03114
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
171910096-171949897 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 171946835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 1014
(Y1014*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027833]
[ENSMUST00000135192]
|
| AlphaFold |
Q8CIE6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027833
AA Change: Y1023*
|
| SMART Domains |
Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: Y1023*
| 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 |
noncoding transcript
Transcript: ENSMUST00000122845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133909
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135192
AA Change: Y1014*
|
| SMART Domains |
Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: Y1014*
| 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: ENSMUST00000142765
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
T |
3: 59,651,144 (GRCm39) |
I89F |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,478,999 (GRCm39) |
H4282Q |
probably benign |
Het |
| Acta2 |
A |
G |
19: 34,222,310 (GRCm39) |
|
probably null |
Het |
| Arl10 |
A |
G |
13: 54,723,579 (GRCm39) |
|
probably benign |
Het |
| Avpr1a |
A |
G |
10: 122,285,623 (GRCm39) |
Y305C |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,906,603 (GRCm39) |
N565K |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,307,115 (GRCm39) |
S1035R |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,694,532 (GRCm39) |
S1654T |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,753,170 (GRCm39) |
N187S |
possibly damaging |
Het |
| Cntn5 |
C |
T |
9: 9,748,457 (GRCm39) |
E680K |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,683,847 (GRCm39) |
S1662P |
probably damaging |
Het |
| Cyp2e1 |
T |
C |
7: 140,353,042 (GRCm39) |
F360L |
possibly damaging |
Het |
| Efnb3 |
A |
T |
11: 69,447,628 (GRCm39) |
|
probably benign |
Het |
| Egf |
A |
T |
3: 129,530,529 (GRCm39) |
L211Q |
probably damaging |
Het |
| Eno1 |
G |
A |
4: 150,325,583 (GRCm39) |
R56H |
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,852,975 (GRCm39) |
T552A |
probably damaging |
Het |
| Git2 |
G |
A |
5: 114,871,918 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,245,752 (GRCm39) |
|
probably null |
Het |
| Hyal4 |
A |
T |
6: 24,755,964 (GRCm39) |
I61L |
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,217,885 (GRCm39) |
|
probably null |
Het |
| Kif13b |
T |
C |
14: 65,025,897 (GRCm39) |
V1418A |
probably benign |
Het |
| Lcn12 |
T |
C |
2: 25,383,274 (GRCm39) |
K35E |
probably benign |
Het |
| Lyrm7 |
G |
T |
11: 54,741,198 (GRCm39) |
N45K |
possibly damaging |
Het |
| Mical2 |
G |
T |
7: 111,996,764 (GRCm39) |
G559V |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,712,441 (GRCm39) |
C648* |
probably null |
Het |
| Muc5b |
C |
A |
7: 141,412,556 (GRCm39) |
S1834* |
probably null |
Het |
| Mup16 |
G |
A |
4: 61,436,250 (GRCm39) |
T101M |
probably benign |
Het |
| Myof |
A |
T |
19: 37,892,309 (GRCm39) |
L1148Q |
probably damaging |
Het |
| Nags |
A |
T |
11: 102,039,814 (GRCm39) |
I501F |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,317,886 (GRCm39) |
Y672F |
probably damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,415,993 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,891,365 (GRCm39) |
S7056P |
unknown |
Het |
| Or52s1 |
T |
C |
7: 102,861,928 (GRCm39) |
I287T |
probably damaging |
Het |
| Pde2a |
C |
A |
7: 101,157,890 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,163,343 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
C |
A |
1: 20,268,395 (GRCm39) |
D3328Y |
probably damaging |
Het |
| Plxdc2 |
T |
C |
2: 16,654,935 (GRCm39) |
V178A |
probably damaging |
Het |
| Prdx3 |
T |
C |
19: 60,861,556 (GRCm39) |
|
probably benign |
Het |
| Prkce |
T |
A |
17: 86,961,983 (GRCm39) |
D694E |
probably damaging |
Het |
| Prss1l |
T |
A |
6: 41,374,012 (GRCm39) |
C205S |
probably damaging |
Het |
| Ptdss1 |
T |
A |
13: 67,142,058 (GRCm39) |
Y405* |
probably null |
Het |
| Rad54l |
A |
T |
4: 115,955,729 (GRCm39) |
W608R |
probably damaging |
Het |
| Rassf6 |
G |
T |
5: 90,756,649 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
A |
T |
15: 32,673,573 (GRCm39) |
I804F |
probably damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,572,267 (GRCm39) |
I668N |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 130,116,288 (GRCm39) |
E1347G |
probably benign |
Het |
| Tmco3 |
T |
C |
8: 13,348,205 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,551,996 (GRCm39) |
M31214V |
probably null |
Het |
| Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
| Ugt2b5 |
T |
C |
5: 87,276,209 (GRCm39) |
Y355C |
probably damaging |
Het |
| Usp48 |
C |
A |
4: 137,383,436 (GRCm39) |
T1031K |
probably damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,500 (GRCm39) |
|
probably benign |
Het |
| Vmn2r90 |
T |
C |
17: 17,953,771 (GRCm39) |
I645T |
probably damaging |
Het |
| Vps18 |
T |
C |
2: 119,124,132 (GRCm39) |
V353A |
possibly damaging |
Het |
| Vwf |
C |
T |
6: 125,576,326 (GRCm39) |
Q469* |
probably null |
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 |
|
IGL01360:Copa
|
APN |
1 |
171,915,155 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation