Incidental Mutation 'R5887:Copg1'
ID |
456164 |
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 # |
R5887 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
87864801-87890577 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87879279 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 442
(F442L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113607]
|
AlphaFold |
Q9QZE5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113607
AA Change: F442L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109237 Gene: ENSMUSG00000030058 AA Change: F442L
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 |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.0%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(58) : Targeted, other(2) Gene trapped(56) |
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
C |
T |
6: 91,892,124 (GRCm39) |
Q129* |
probably null |
Het |
Acad8 |
A |
T |
9: 26,890,620 (GRCm39) |
|
probably null |
Het |
AK157302 |
T |
C |
13: 21,679,579 (GRCm39) |
I35T |
possibly damaging |
Het |
Arfgef3 |
G |
T |
10: 18,483,413 (GRCm39) |
S1437* |
probably null |
Het |
Calcrl |
A |
T |
2: 84,200,841 (GRCm39) |
W68R |
probably damaging |
Het |
Cd200l1 |
T |
A |
16: 45,238,279 (GRCm39) |
L178F |
probably damaging |
Het |
Cd59a |
A |
G |
2: 103,934,546 (GRCm39) |
R5G |
probably damaging |
Het |
Chl1 |
C |
T |
6: 103,694,565 (GRCm39) |
A1091V |
probably benign |
Het |
Creld1 |
T |
C |
6: 113,469,860 (GRCm39) |
*421Q |
probably null |
Het |
Crocc2 |
T |
A |
1: 93,121,838 (GRCm39) |
H662Q |
possibly damaging |
Het |
Csf2ra |
G |
A |
19: 61,215,766 (GRCm39) |
A13V |
possibly damaging |
Het |
Cul3 |
T |
C |
1: 80,254,139 (GRCm39) |
T546A |
possibly damaging |
Het |
Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
Dock6 |
T |
A |
9: 21,731,690 (GRCm39) |
H1173L |
probably damaging |
Het |
Dpysl4 |
T |
C |
7: 138,676,192 (GRCm39) |
I328T |
possibly damaging |
Het |
Dspp |
G |
A |
5: 104,323,321 (GRCm39) |
G155R |
probably damaging |
Het |
Fbxo33 |
A |
T |
12: 59,251,545 (GRCm39) |
C57* |
probably null |
Het |
Frrs1 |
T |
A |
3: 116,690,399 (GRCm39) |
V14D |
probably benign |
Het |
Gm13199 |
C |
T |
2: 5,867,113 (GRCm39) |
G96S |
unknown |
Het |
Gpr155 |
A |
T |
2: 73,174,062 (GRCm39) |
C754* |
probably null |
Het |
Gpr62 |
A |
T |
9: 106,342,814 (GRCm39) |
V38E |
probably damaging |
Het |
Kcnt2 |
C |
A |
1: 140,353,104 (GRCm39) |
P271H |
probably damaging |
Het |
Kpna3 |
C |
T |
14: 61,640,461 (GRCm39) |
V34I |
probably benign |
Het |
Lamb1 |
C |
T |
12: 31,316,863 (GRCm39) |
Q71* |
probably null |
Het |
Lipk |
T |
C |
19: 34,016,507 (GRCm39) |
I245T |
possibly damaging |
Het |
Lrp1b |
T |
G |
2: 40,711,719 (GRCm39) |
N3281T |
possibly damaging |
Het |
Lrp5 |
A |
C |
19: 3,654,094 (GRCm39) |
I1111S |
probably benign |
Het |
Mmrn1 |
T |
C |
6: 60,964,058 (GRCm39) |
V1020A |
probably benign |
Het |
Or4c107 |
G |
A |
2: 88,789,098 (GRCm39) |
C96Y |
possibly damaging |
Het |
Or8b48 |
G |
A |
9: 38,493,080 (GRCm39) |
C169Y |
probably damaging |
Het |
Or8g34 |
T |
C |
9: 39,372,787 (GRCm39) |
L17P |
probably damaging |
Het |
Pcdha7 |
A |
T |
18: 37,108,960 (GRCm39) |
T662S |
probably damaging |
Het |
Pcdhga6 |
A |
G |
18: 37,841,612 (GRCm39) |
D444G |
probably damaging |
Het |
Pkd2 |
T |
G |
5: 104,646,405 (GRCm39) |
D737E |
probably damaging |
Het |
Plcd4 |
C |
T |
1: 74,590,249 (GRCm39) |
R161W |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,391,734 (GRCm39) |
Y1494C |
possibly damaging |
Het |
Rad17 |
A |
C |
13: 100,770,369 (GRCm39) |
|
probably null |
Het |
Rbm17 |
A |
T |
2: 11,590,485 (GRCm39) |
F390Y |
probably damaging |
Het |
Rhod |
A |
T |
19: 4,489,315 (GRCm39) |
L22Q |
probably damaging |
Het |
Serpina1f |
T |
C |
12: 103,656,046 (GRCm39) |
D394G |
possibly damaging |
Het |
Serpina1f |
G |
A |
12: 103,659,890 (GRCm39) |
Q131* |
probably null |
Het |
Spocd1 |
A |
T |
4: 129,842,752 (GRCm39) |
S56C |
probably damaging |
Het |
St7l |
G |
A |
3: 104,782,244 (GRCm39) |
R207H |
probably benign |
Het |
Tasor |
T |
A |
14: 27,188,254 (GRCm39) |
L900* |
probably null |
Het |
Tbx18 |
T |
C |
9: 87,595,566 (GRCm39) |
D336G |
possibly damaging |
Het |
Tfg |
A |
T |
16: 56,514,779 (GRCm39) |
Y135* |
probably null |
Het |
Tjp2 |
A |
G |
19: 24,073,963 (GRCm39) |
L1108P |
probably benign |
Het |
Tmem150c |
C |
A |
5: 100,243,524 (GRCm39) |
V8L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,746,789 (GRCm39) |
H4753Q |
probably benign |
Het |
Tyw1 |
T |
A |
5: 130,354,540 (GRCm39) |
I589N |
probably damaging |
Het |
Usp40 |
C |
T |
1: 87,927,592 (GRCm39) |
R139Q |
probably damaging |
Het |
Zgrf1 |
A |
G |
3: 127,378,414 (GRCm39) |
Y174C |
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 |
|
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 |
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'- TGCCTATGGAGCGTTGTTCC -3'
(R):5'- TACTGGGCAAATTCACTGCAAAAG -3'
Sequencing Primer
(F):5'- AGCGTTGTTCCCTGGGC -3'
(R):5'- TTCACTGCAAAAGAAGCTAAGAGGC -3'
|
Posted On |
2017-02-15 |