Incidental Mutation 'R7629:Copg1'
| ID |
589542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copg1
|
| Ensembl Gene |
ENSMUSG00000030058 |
| Gene Name |
coatomer protein complex, subunit gamma 1 |
| Synonyms |
D6Ertd71e, Copg, D6Wsu16e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R7629 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
87864801-87890577 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87871151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 289
(V289A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049966]
[ENSMUST00000113607]
|
| AlphaFold |
Q9QZE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049966
|
| SMART Domains |
Protein: ENSMUSP00000050858
Gene: ENSMUSG00000030058
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
23 |
109 |
2e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113607
AA Change: V289A
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109237
Gene: ENSMUSG00000030058
AA Change: V289A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
23 |
539 |
4.1e-135 |
PFAM |
|
Pfam:COP-gamma_platf
|
611 |
759 |
7.6e-64 |
PFAM |
|
Pfam:Coatomer_g_Cpla
|
761 |
873 |
1.5e-40 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(58) : Targeted, other(2) Gene trapped(56) |
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
G |
A |
16: 88,504,293 (GRCm39) |
T168I |
probably benign |
Het |
| Abtb2 |
T |
A |
2: 103,513,838 (GRCm39) |
|
probably null |
Het |
| Ankrd10 |
A |
T |
8: 11,665,769 (GRCm39) |
V277E |
probably benign |
Het |
| Ankrd28 |
C |
T |
14: 31,437,221 (GRCm39) |
V615I |
probably benign |
Het |
| Aqr |
G |
A |
2: 113,945,074 (GRCm39) |
P1079L |
probably damaging |
Het |
| Brox |
G |
A |
1: 183,074,068 (GRCm39) |
A60V |
probably damaging |
Het |
| Cplane1 |
C |
T |
15: 8,256,551 (GRCm39) |
Q2004* |
probably null |
Het |
| Dido1 |
T |
C |
2: 180,303,266 (GRCm39) |
N1546S |
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,992,337 (GRCm39) |
I361N |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 24,887,374 (GRCm39) |
D88E |
probably benign |
Het |
| Flywch1 |
A |
G |
17: 23,974,744 (GRCm39) |
M632T |
probably benign |
Het |
| Henmt1 |
A |
G |
3: 108,865,913 (GRCm39) |
T213A |
probably benign |
Het |
| Itga9 |
T |
C |
9: 118,527,514 (GRCm39) |
V555A |
probably benign |
Het |
| Katnip |
T |
C |
7: 125,394,422 (GRCm39) |
L192P |
probably damaging |
Het |
| Kif13b |
C |
T |
14: 65,016,784 (GRCm39) |
R1317* |
probably null |
Het |
| Kndc1 |
A |
T |
7: 139,475,176 (GRCm39) |
E25V |
probably damaging |
Het |
| Lingo2 |
T |
A |
4: 35,708,675 (GRCm39) |
D435V |
possibly damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,509,283 (GRCm39) |
M375L |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,347,310 (GRCm39) |
|
probably null |
Het |
| Mgat4c |
G |
A |
10: 102,224,931 (GRCm39) |
V382I |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,478,081 (GRCm39) |
T7075A |
possibly damaging |
Het |
| Myo5b |
T |
A |
18: 74,760,325 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,163,973 (GRCm39) |
D1995G |
possibly damaging |
Het |
| Nudt9 |
T |
C |
5: 104,198,560 (GRCm39) |
V75A |
possibly damaging |
Het |
| Or4k35 |
C |
T |
2: 111,100,221 (GRCm39) |
V164I |
probably benign |
Het |
| Paf1 |
T |
C |
7: 28,094,493 (GRCm39) |
Y35H |
probably damaging |
Het |
| Pals2 |
T |
C |
6: 50,173,603 (GRCm39) |
I489T |
probably benign |
Het |
| Panx3 |
T |
A |
9: 37,572,740 (GRCm39) |
Q270L |
possibly damaging |
Het |
| Pde6h |
G |
T |
6: 136,936,317 (GRCm39) |
R20L |
possibly damaging |
Het |
| Pdxk |
A |
G |
10: 78,280,840 (GRCm39) |
I200T |
probably benign |
Het |
| Ppara |
A |
T |
15: 85,682,392 (GRCm39) |
M363L |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,666,846 (GRCm39) |
L376* |
probably null |
Het |
| Serpina1a |
G |
C |
12: 103,820,067 (GRCm39) |
T393R |
probably damaging |
Het |
| Sfxn1 |
C |
T |
13: 54,247,041 (GRCm39) |
R178C |
probably damaging |
Het |
| Sirpb1c |
A |
T |
3: 15,902,559 (GRCm39) |
W7R |
possibly damaging |
Het |
| Skint5 |
T |
C |
4: 113,799,857 (GRCm39) |
Y104C |
probably damaging |
Het |
| Slamf6 |
A |
T |
1: 171,764,191 (GRCm39) |
T195S |
probably damaging |
Het |
| Slc2a6 |
T |
C |
2: 26,914,214 (GRCm39) |
D301G |
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,719,646 (GRCm39) |
|
probably null |
Het |
| Tctn3 |
C |
G |
19: 40,599,780 (GRCm39) |
D141H |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,715,877 (GRCm39) |
N1164D |
probably damaging |
Het |
| Tpcn1 |
C |
T |
5: 120,676,002 (GRCm39) |
V711I |
probably benign |
Het |
| Trim11 |
G |
A |
11: 58,869,160 (GRCm39) |
G32D |
probably damaging |
Het |
| Usp32 |
TTTGGTTG |
TTTG |
11: 84,910,681 (GRCm39) |
|
probably null |
Het |
| Vmn1r72 |
T |
C |
7: 11,403,711 (GRCm39) |
I246V |
probably benign |
Het |
| Zfp362 |
G |
T |
4: 128,679,848 (GRCm39) |
R273S |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,951,100 (GRCm39) |
D66G |
possibly damaging |
Het |
| Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
probably benign |
Het |
|
| Other mutations in Copg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Copg1
|
APN |
6 |
87,879,352 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00816:Copg1
|
APN |
6 |
87,870,880 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02087:Copg1
|
APN |
6 |
87,879,192 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0194:Copg1
|
UTSW |
6 |
87,881,179 (GRCm39) |
splice site |
probably benign |
|
|
R0448:Copg1
|
UTSW |
6 |
87,881,908 (GRCm39) |
missense |
probably benign |
|
|
R0576:Copg1
|
UTSW |
6 |
87,874,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0701:Copg1
|
UTSW |
6 |
87,871,089 (GRCm39) |
nonsense |
probably null |
|
|
R1251:Copg1
|
UTSW |
6 |
87,866,989 (GRCm39) |
nonsense |
probably null |
|
|
R1707:Copg1
|
UTSW |
6 |
87,882,192 (GRCm39) |
missense |
probably benign |
|
|
R1845:Copg1
|
UTSW |
6 |
87,870,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3500:Copg1
|
UTSW |
6 |
87,872,905 (GRCm39) |
splice site |
probably benign |
|
|
R3952:Copg1
|
UTSW |
6 |
87,882,198 (GRCm39) |
missense |
probably benign |
|
|
R4283:Copg1
|
UTSW |
6 |
87,885,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Copg1
|
UTSW |
6 |
87,884,528 (GRCm39) |
intron |
probably benign |
|
|
R4715:Copg1
|
UTSW |
6 |
87,889,268 (GRCm39) |
nonsense |
probably null |
|
|
R4797:Copg1
|
UTSW |
6 |
87,880,450 (GRCm39) |
intron |
probably benign |
|
|
R4864:Copg1
|
UTSW |
6 |
87,866,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Copg1
|
UTSW |
6 |
87,880,455 (GRCm39) |
splice site |
probably benign |
|
|
R5265:Copg1
|
UTSW |
6 |
87,869,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5288:Copg1
|
UTSW |
6 |
87,867,189 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5386:Copg1
|
UTSW |
6 |
87,867,189 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5511:Copg1
|
UTSW |
6 |
87,889,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5670:Copg1
|
UTSW |
6 |
87,889,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5887:Copg1
|
UTSW |
6 |
87,879,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Copg1
|
UTSW |
6 |
87,879,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Copg1
|
UTSW |
6 |
87,871,087 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7380:Copg1
|
UTSW |
6 |
87,870,824 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7392:Copg1
|
UTSW |
6 |
87,867,257 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7704:Copg1
|
UTSW |
6 |
87,884,940 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8060:Copg1
|
UTSW |
6 |
87,886,703 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8184:Copg1
|
UTSW |
6 |
87,866,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8683:Copg1
|
UTSW |
6 |
87,869,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9320:Copg1
|
UTSW |
6 |
87,887,072 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9433:Copg1
|
UTSW |
6 |
87,880,478 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9564:Copg1
|
UTSW |
6 |
87,869,683 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9660:Copg1
|
UTSW |
6 |
87,879,225 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9709:Copg1
|
UTSW |
6 |
87,868,957 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9728:Copg1
|
UTSW |
6 |
87,879,225 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGCCAGCTAGATGATGCC -3'
(R):5'- GAGCTTTATAGGTCCTGGGC -3'
Sequencing Primer
(F):5'- GCCAGCTAGATGATGCCTTCTG -3'
(R):5'- TTATAGGTCCTGGGCCCCAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation