Incidental Mutation 'IGL00662:Copg1'
| ID |
9842 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.964)
|
| Stock # |
IGL00662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
87864801-87890577 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87879352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 466
(T466I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113607]
|
| AlphaFold |
Q9QZE5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113607
AA Change: T466I
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109237
Gene: ENSMUSG00000030058
AA Change: T466I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132938
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149907
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205234
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(58) : Targeted, other(2) Gene trapped(56) |
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg16l2 |
T |
C |
7: 100,939,103 (GRCm39) |
N587S |
probably benign |
Het |
| Bcar3 |
C |
T |
3: 122,306,585 (GRCm39) |
A186V |
probably benign |
Het |
| Bcr |
A |
T |
10: 75,003,932 (GRCm39) |
|
probably benign |
Het |
| Cd207 |
A |
G |
6: 83,652,908 (GRCm39) |
I74T |
possibly damaging |
Het |
| Cenpn |
T |
C |
8: 117,655,326 (GRCm39) |
|
probably null |
Het |
| Chuk |
A |
T |
19: 44,085,649 (GRCm39) |
F228I |
possibly damaging |
Het |
| Cmss1 |
T |
C |
16: 57,124,092 (GRCm39) |
D233G |
probably damaging |
Het |
| Ctsll3 |
A |
G |
13: 60,946,756 (GRCm39) |
S288P |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,907,723 (GRCm39) |
I2760F |
possibly damaging |
Het |
| Gpi1 |
A |
G |
7: 33,915,375 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,581,081 (GRCm39) |
R318C |
probably benign |
Het |
| Kcnk9 |
A |
G |
15: 72,417,924 (GRCm39) |
S69P |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,995,897 (GRCm39) |
T127A |
probably damaging |
Het |
| Khk |
T |
C |
5: 31,087,019 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,850,502 (GRCm39) |
S703T |
possibly damaging |
Het |
| Nup98 |
T |
A |
7: 101,844,194 (GRCm39) |
N47I |
probably damaging |
Het |
| Rad1 |
A |
G |
15: 10,490,495 (GRCm39) |
N154S |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,220,389 (GRCm39) |
|
probably benign |
Het |
| Slc35f5 |
T |
A |
1: 125,515,161 (GRCm39) |
L438H |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,358,659 (GRCm39) |
Y334C |
possibly damaging |
Het |
| Spata17 |
T |
C |
1: 186,849,536 (GRCm39) |
N124S |
probably benign |
Het |
| Tfap2c |
T |
C |
2: 172,393,438 (GRCm39) |
Y118H |
probably damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,565,845 (GRCm39) |
L503* |
probably null |
Het |
| Utrn |
C |
T |
10: 12,540,705 (GRCm39) |
E1907K |
probably damaging |
Het |
| Vav3 |
T |
A |
3: 109,435,708 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,681,904 (GRCm39) |
K1033I |
probably damaging |
Het |
| Zfp202 |
A |
G |
9: 40,122,339 (GRCm39) |
N367S |
probably benign |
Het |
|
| Other mutations in Copg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R7629:Copg1
|
UTSW |
6 |
87,871,151 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation