Incidental Mutation 'R8956:Copa'
| ID |
681985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copa
|
| Ensembl Gene |
ENSMUSG00000026553 |
| Gene Name |
coatomer protein complex subunit alpha |
| Synonyms |
xenin |
| MMRRC Submission |
068792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R8956 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171910096-171949897 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 171937480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 477
(V477D)
|
| 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: V477D
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: V477D
| 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 |
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 |
probably benign
Transcript: ENSMUST00000135192
AA Change: V477D
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: V477D
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (87/89) |
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
C |
T |
7: 78,750,713 (GRCm39) |
T1828I |
probably benign |
Het |
| Acsf2 |
A |
G |
11: 94,461,211 (GRCm39) |
S322P |
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,391,438 (GRCm39) |
I170N |
probably damaging |
Het |
| Adam22 |
G |
A |
5: 8,142,343 (GRCm39) |
T814I |
probably damaging |
Het |
| Agrn |
G |
T |
4: 156,250,995 (GRCm39) |
D1914E |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,187,127 (GRCm39) |
S1514P |
probably benign |
Het |
| Akap9 |
T |
C |
5: 3,998,805 (GRCm39) |
L58P |
possibly damaging |
Het |
| Apof |
A |
G |
10: 128,105,712 (GRCm39) |
I289V |
probably benign |
Het |
| Arhgap35 |
G |
A |
7: 16,348,404 (GRCm39) |
|
probably benign |
Het |
| Atad3a |
A |
C |
4: 155,838,054 (GRCm39) |
F239L |
probably damaging |
Het |
| Atf6 |
T |
C |
1: 170,621,576 (GRCm39) |
T482A |
probably damaging |
Het |
| Atg9b |
T |
C |
5: 24,591,850 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
T |
A |
2: 126,167,327 (GRCm39) |
|
probably null |
Het |
| B4galt5 |
T |
C |
2: 167,143,260 (GRCm39) |
Y388C |
probably damaging |
Het |
| Bahd1 |
T |
C |
2: 118,749,689 (GRCm39) |
L495P |
probably damaging |
Het |
| Bcl6 |
T |
C |
16: 23,793,716 (GRCm39) |
E77G |
probably damaging |
Het |
| Bst1 |
C |
A |
5: 43,982,716 (GRCm39) |
S187* |
probably null |
Het |
| Car4 |
A |
G |
11: 84,855,377 (GRCm39) |
N170S |
probably null |
Het |
| Cdk14 |
A |
T |
5: 5,277,182 (GRCm39) |
V131E |
probably damaging |
Het |
| Cdk4 |
T |
A |
10: 126,900,546 (GRCm39) |
|
probably benign |
Het |
| Cebpe |
T |
C |
14: 54,949,121 (GRCm39) |
R99G |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,276,300 (GRCm39) |
G736D |
probably damaging |
Het |
| Coq9 |
G |
A |
8: 95,576,886 (GRCm39) |
G166D |
probably benign |
Het |
| Cttnbp2 |
A |
T |
6: 18,434,165 (GRCm39) |
N564K |
possibly damaging |
Het |
| Dgkq |
T |
C |
5: 108,798,095 (GRCm39) |
N721S |
probably benign |
Het |
| Dnhd1 |
A |
T |
7: 105,341,852 (GRCm39) |
Y1217F |
probably damaging |
Het |
| Eef1akmt4 |
G |
T |
16: 20,437,398 (GRCm39) |
E247* |
probably null |
Het |
| Elovl7 |
A |
T |
13: 108,393,320 (GRCm39) |
I18F |
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,818,952 (GRCm39) |
K785E |
possibly damaging |
Het |
| Faap100 |
C |
A |
11: 120,268,185 (GRCm39) |
C196F |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,173,729 (GRCm39) |
T2328M |
probably damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,041,204 (GRCm39) |
I121N |
probably benign |
Het |
| Gm12253 |
A |
G |
11: 58,327,605 (GRCm39) |
K152E |
probably benign |
Het |
| Gm16440 |
T |
A |
14: 17,574,527 (GRCm39) |
R167* |
probably null |
Het |
| Gm43302 |
T |
A |
5: 105,425,602 (GRCm39) |
I276F |
possibly damaging |
Het |
| Gys2 |
A |
G |
6: 142,374,267 (GRCm39) |
S593P |
probably damaging |
Het |
| H2-M10.4 |
T |
A |
17: 36,772,245 (GRCm39) |
N168Y |
probably benign |
Het |
| Hpca |
C |
A |
4: 129,012,287 (GRCm39) |
R83L |
probably damaging |
Het |
| Igkv8-28 |
A |
G |
6: 70,121,109 (GRCm39) |
F13L |
probably benign |
Het |
| Il17ra |
A |
T |
6: 120,458,465 (GRCm39) |
I539F |
probably damaging |
Het |
| Kdm4a |
A |
G |
4: 118,019,013 (GRCm39) |
V401A |
possibly damaging |
Het |
| Krt86 |
A |
T |
15: 101,375,157 (GRCm39) |
T351S |
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,021,378 (GRCm39) |
C801R |
probably benign |
Het |
| Lrrn4 |
G |
A |
2: 132,714,011 (GRCm39) |
P312S |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,368,641 (GRCm39) |
H2040L |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,502,466 (GRCm39) |
K317E |
possibly damaging |
Het |
| Maip1 |
T |
C |
1: 57,450,961 (GRCm39) |
I201T |
probably damaging |
Het |
| Map4k4 |
C |
A |
1: 40,039,840 (GRCm39) |
D513E |
probably benign |
Het |
| Mideas |
T |
A |
12: 84,209,102 (GRCm39) |
I667L |
probably benign |
Het |
| Mpped1 |
G |
A |
15: 83,740,469 (GRCm39) |
G137R |
probably damaging |
Het |
| Mrgprd |
T |
G |
7: 144,875,923 (GRCm39) |
F265V |
probably benign |
Het |
| Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
| Mylk |
A |
G |
16: 34,791,779 (GRCm39) |
T1484A |
probably benign |
Het |
| Nbas |
C |
T |
12: 13,482,923 (GRCm39) |
S1400L |
possibly damaging |
Het |
| Nedd4 |
T |
A |
9: 72,633,708 (GRCm39) |
S405T |
probably benign |
Het |
| Neil2 |
A |
G |
14: 63,429,227 (GRCm39) |
V22A |
probably damaging |
Het |
| Nrip1 |
G |
C |
16: 76,089,193 (GRCm39) |
A788G |
probably benign |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or10ab4 |
A |
G |
7: 107,655,160 (GRCm39) |
T324A |
probably benign |
Het |
| Or10d4c |
C |
T |
9: 39,558,496 (GRCm39) |
T158I |
probably damaging |
Het |
| Or2b7 |
T |
C |
13: 21,740,169 (GRCm39) |
I8V |
probably benign |
Het |
| Or2bd2 |
G |
A |
7: 6,442,020 (GRCm39) |
|
probably benign |
Het |
| Or2r2 |
T |
A |
6: 42,463,830 (GRCm39) |
Q99L |
probably damaging |
Het |
| Or6c215 |
C |
T |
10: 129,638,222 (GRCm39) |
M57I |
possibly damaging |
Het |
| Orc2 |
T |
C |
1: 58,505,221 (GRCm39) |
N478S |
probably damaging |
Het |
| Oxct1 |
A |
G |
15: 4,064,806 (GRCm39) |
E48G |
possibly damaging |
Het |
| Pcca |
A |
G |
14: 122,975,324 (GRCm39) |
I28V |
probably benign |
Het |
| Pcdha8 |
T |
C |
18: 37,126,241 (GRCm39) |
V241A |
probably benign |
Het |
| Pgap6 |
T |
A |
17: 26,339,374 (GRCm39) |
S563T |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pkd2 |
T |
A |
5: 104,631,090 (GRCm39) |
W505R |
probably damaging |
Het |
| Plxnc1 |
C |
T |
10: 94,746,448 (GRCm39) |
V430I |
probably benign |
Het |
| Prkd3 |
A |
G |
17: 79,278,883 (GRCm39) |
M401T |
probably damaging |
Het |
| Rgmb |
A |
G |
17: 16,027,748 (GRCm39) |
C324R |
probably benign |
Het |
| Rsph6a |
A |
T |
7: 18,799,364 (GRCm39) |
|
probably benign |
Het |
| Sclt1 |
A |
T |
3: 41,636,209 (GRCm39) |
M264K |
probably benign |
Het |
| Serhl |
T |
A |
15: 82,985,899 (GRCm39) |
V30D |
possibly damaging |
Het |
| Sfrp1 |
T |
C |
8: 23,902,159 (GRCm39) |
V120A |
probably damaging |
Het |
| Slc22a8 |
C |
T |
19: 8,587,030 (GRCm39) |
Q408* |
probably null |
Het |
| Slc35b2 |
A |
G |
17: 45,877,673 (GRCm39) |
T218A |
probably damaging |
Het |
| Slco4c1 |
A |
T |
1: 96,765,242 (GRCm39) |
F403I |
probably damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,351,660 (GRCm39) |
H250L |
probably damaging |
Het |
| Sorcs3 |
T |
A |
19: 48,737,810 (GRCm39) |
C742* |
probably null |
Het |
| Tnc |
T |
C |
4: 63,918,970 (GRCm39) |
Y1151C |
probably damaging |
Het |
| Tor1aip1 |
T |
A |
1: 155,909,582 (GRCm39) |
|
probably benign |
Het |
| Trim9 |
T |
C |
12: 70,393,665 (GRCm39) |
Q93R |
probably damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,570,813 (GRCm39) |
Y613C |
probably damaging |
Het |
| Ttc6 |
C |
T |
12: 57,775,196 (GRCm39) |
Q1631* |
probably null |
Het |
| Ubr5 |
A |
G |
15: 38,015,367 (GRCm39) |
L881P |
probably damaging |
Het |
| Upp2 |
C |
T |
2: 58,457,454 (GRCm39) |
|
probably benign |
Het |
| Vmn1r203 |
T |
A |
13: 22,709,004 (GRCm39) |
S262T |
possibly damaging |
Het |
| Vmn2r116 |
A |
T |
17: 23,605,736 (GRCm39) |
D216V |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,177,049 (GRCm39) |
Q96R |
probably benign |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAATTGCTGAGGGGCATCTTAAG -3'
(R):5'- CACTGCTGGAATGCATGCAC -3'
Sequencing Primer
(F):5'- AGGGGCATCTTAAGCTCTTGCC -3'
(R):5'- CTGGAATGCATGCACACAGTG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation