Incidental Mutation 'R4283:Copg1'
| ID |
321947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copg1
|
| Ensembl Gene |
ENSMUSG00000030058 |
| Gene Name |
coatomer protein complex, subunit gamma 1 |
| Synonyms |
D6Ertd71e, Copg, D6Wsu16e |
| MMRRC Submission |
041651-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R4283 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
87864801-87890577 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87885527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 723
(T723M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113607]
|
| AlphaFold |
Q9QZE5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113607
AA Change: T723M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109237
Gene: ENSMUSG00000030058
AA Change: T723M
| 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: ENSMUST00000127614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149907
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181696
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
All alleles(58) : Targeted, other(2) Gene trapped(56) |
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
G |
11: 117,697,087 (GRCm39) |
T229A |
probably benign |
Het |
| Adgrg5 |
T |
G |
8: 95,664,326 (GRCm39) |
V312G |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Camk2b |
A |
C |
11: 5,937,099 (GRCm39) |
S327A |
probably benign |
Het |
| Card9 |
A |
G |
2: 26,247,309 (GRCm39) |
I280T |
possibly damaging |
Het |
| Cd274 |
A |
T |
19: 29,357,871 (GRCm39) |
M188L |
probably benign |
Het |
| Cga |
T |
C |
4: 34,905,264 (GRCm39) |
|
probably null |
Het |
| Cplx2 |
A |
G |
13: 54,527,377 (GRCm39) |
E87G |
probably damaging |
Het |
| Crtc2 |
A |
G |
3: 90,166,543 (GRCm39) |
|
probably benign |
Het |
| Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
| Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
| Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
| Ghr |
C |
A |
15: 3,362,930 (GRCm39) |
V181L |
possibly damaging |
Het |
| Gm10750 |
A |
G |
2: 148,857,916 (GRCm39) |
F112L |
unknown |
Het |
| Gm17541 |
A |
G |
12: 4,739,656 (GRCm39) |
|
probably benign |
Het |
| Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
| Hdac10 |
A |
G |
15: 89,009,826 (GRCm39) |
L402P |
possibly damaging |
Het |
| Hsd17b12 |
G |
C |
2: 93,863,931 (GRCm39) |
R304G |
unknown |
Het |
| Iqgap3 |
T |
C |
3: 88,006,167 (GRCm39) |
V526A |
probably benign |
Het |
| Ncaph |
A |
G |
2: 126,963,005 (GRCm39) |
|
probably benign |
Het |
| Ninl |
T |
C |
2: 150,795,336 (GRCm39) |
|
probably benign |
Het |
| Pcgf1 |
T |
A |
6: 83,056,714 (GRCm39) |
L90Q |
probably damaging |
Het |
| Pcsk4 |
C |
A |
10: 80,165,287 (GRCm39) |
|
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,699,734 (GRCm39) |
E60G |
probably damaging |
Het |
| Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,563,950 (GRCm39) |
Y568C |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,294,824 (GRCm39) |
Y177C |
probably damaging |
Het |
| Tas2r104 |
C |
T |
6: 131,662,374 (GRCm39) |
A112T |
probably damaging |
Het |
| Tas2r123 |
G |
A |
6: 132,825,008 (GRCm39) |
V302I |
possibly damaging |
Het |
| Tas2r143 |
T |
A |
6: 42,378,007 (GRCm39) |
|
probably null |
Het |
| Tfeb |
A |
G |
17: 48,100,699 (GRCm39) |
E305G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 5,978,369 (GRCm39) |
N411S |
unknown |
Het |
| Vmn2r52 |
C |
T |
7: 9,904,565 (GRCm39) |
G425R |
possibly damaging |
Het |
| Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
| Zfp429 |
A |
C |
13: 67,538,914 (GRCm39) |
C177G |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCACACTGCATTGTCTC -3'
(R):5'- GGGCCTAGCTATCTAGAAAGC -3'
Sequencing Primer
(F):5'- ACTGCATTGTCTCTGTTTCCTTGG -3'
(R):5'- TTCAGTCCCAGACAGGAT -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation