Incidental Mutation 'IGL00848:Copa'
| ID |
9838 |
| 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 # |
IGL00848
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
171910096-171949897 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 171938255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 523
(C523S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027833]
[ENSMUST00000124289]
[ENSMUST00000135192]
|
| AlphaFold |
Q8CIE6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027833
AA Change: C523S
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: C523S
| 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 |
probably benign
Transcript: ENSMUST00000124289
|
| SMART Domains |
Protein: ENSMUSP00000118899
Gene: ENSMUSG00000026553
| 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: ENSMUST00000133909
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135192
AA Change: C514S
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: C514S
| 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 |
probably benign
Transcript: ENSMUST00000152403
|
| SMART Domains |
Protein: ENSMUSP00000123214
Gene: ENSMUSG00000026553
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
14 |
53 |
8.42e-7 |
SMART |
|
WD40
|
56 |
94 |
1.38e1 |
SMART |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,370,237 (GRCm39) |
F508L |
probably damaging |
Het |
| Adgra3 |
C |
T |
5: 50,159,291 (GRCm39) |
G320R |
probably damaging |
Het |
| Arhgef40 |
G |
A |
14: 52,224,884 (GRCm39) |
V10M |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 75,003,388 (GRCm39) |
Q4739* |
probably null |
Het |
| Cdcp3 |
A |
G |
7: 130,848,453 (GRCm39) |
E869G |
probably damaging |
Het |
| Cdh20 |
C |
T |
1: 104,861,981 (GRCm39) |
H54Y |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,362,886 (GRCm39) |
D202G |
probably damaging |
Het |
| Cfhr2 |
T |
A |
1: 139,758,970 (GRCm39) |
T27S |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
| Copz1 |
T |
A |
15: 103,207,176 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
A |
C |
10: 43,843,814 (GRCm39) |
|
probably null |
Het |
| Cyp3a11 |
A |
T |
5: 145,799,275 (GRCm39) |
I304N |
probably damaging |
Het |
| Eif2d |
C |
T |
1: 131,092,173 (GRCm39) |
Q315* |
probably null |
Het |
| Fgfr4 |
A |
G |
13: 55,306,983 (GRCm39) |
E224G |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,505,658 (GRCm39) |
L870Q |
probably damaging |
Het |
| Glt8d2 |
C |
T |
10: 82,497,999 (GRCm39) |
|
probably null |
Het |
| Gpat3 |
A |
T |
5: 101,041,010 (GRCm39) |
M357L |
probably benign |
Het |
| Hrnr |
A |
T |
3: 93,230,204 (GRCm39) |
K147N |
unknown |
Het |
| Kbtbd3 |
T |
A |
9: 4,331,184 (GRCm39) |
S519R |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,976,624 (GRCm39) |
I221T |
probably benign |
Het |
| Khdrbs2 |
C |
T |
1: 32,511,833 (GRCm39) |
A266V |
probably benign |
Het |
| Lmtk2 |
A |
G |
5: 144,113,216 (GRCm39) |
E1312G |
probably benign |
Het |
| Mos |
T |
C |
4: 3,871,459 (GRCm39) |
N119S |
probably damaging |
Het |
| Mtpap |
C |
T |
18: 4,380,717 (GRCm39) |
H132Y |
probably benign |
Het |
| Myo18b |
G |
A |
5: 113,019,351 (GRCm39) |
T642I |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,196,463 (GRCm39) |
E1303G |
probably benign |
Het |
| Napepld |
A |
T |
5: 21,888,191 (GRCm39) |
M86K |
probably benign |
Het |
| Nvl |
T |
A |
1: 180,932,690 (GRCm39) |
D709V |
probably damaging |
Het |
| Pak1ip1 |
A |
T |
13: 41,166,099 (GRCm39) |
E341D |
probably benign |
Het |
| Pgghg |
G |
A |
7: 140,522,317 (GRCm39) |
G32D |
probably damaging |
Het |
| Phlpp1 |
G |
A |
1: 106,303,985 (GRCm39) |
R1096H |
probably damaging |
Het |
| Phlpp1 |
C |
T |
1: 106,267,178 (GRCm39) |
T697M |
probably damaging |
Het |
| Piwil4 |
T |
G |
9: 14,638,707 (GRCm39) |
T273P |
probably damaging |
Het |
| Pkd2l1 |
A |
T |
19: 44,180,718 (GRCm39) |
|
probably benign |
Het |
| Polr3b |
A |
G |
10: 84,516,241 (GRCm39) |
D623G |
probably damaging |
Het |
| Pop1 |
A |
G |
15: 34,508,875 (GRCm39) |
T317A |
probably benign |
Het |
| Prune2 |
A |
T |
19: 17,096,482 (GRCm39) |
K662I |
probably damaging |
Het |
| Ptger4 |
T |
C |
15: 5,264,589 (GRCm39) |
I356V |
probably benign |
Het |
| Rhbdd1 |
T |
C |
1: 82,318,165 (GRCm39) |
L16P |
possibly damaging |
Het |
| Rps11 |
C |
T |
7: 44,772,925 (GRCm39) |
R22Q |
probably benign |
Het |
| Sfxn2 |
A |
T |
19: 46,578,596 (GRCm39) |
I204F |
probably damaging |
Het |
| Slc26a9 |
C |
T |
1: 131,685,266 (GRCm39) |
S365F |
probably damaging |
Het |
| Slc47a2 |
C |
T |
11: 61,193,059 (GRCm39) |
V565M |
probably benign |
Het |
| Spns1 |
T |
C |
7: 125,970,414 (GRCm39) |
|
probably null |
Het |
| Stk3 |
T |
A |
15: 35,114,768 (GRCm39) |
E48V |
possibly damaging |
Het |
| Svs3b |
T |
C |
2: 164,098,021 (GRCm39) |
E100G |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,952,942 (GRCm39) |
Q1464R |
probably benign |
Het |
| Tspan10 |
T |
C |
11: 120,335,096 (GRCm39) |
S69P |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,942,007 (GRCm39) |
|
probably benign |
Het |
| Vps45 |
G |
T |
3: 95,964,285 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,343,208 (GRCm39) |
N1790K |
probably damaging |
Het |
| Zfp704 |
A |
T |
3: 9,630,299 (GRCm39) |
S21T |
possibly damaging |
Het |
|
| Other mutations in Copa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation