Incidental Mutation 'R0576:Copg1'
| ID |
56227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copg1
|
| Ensembl Gene |
ENSMUSG00000030058 |
| Gene Name |
coatomer protein complex, subunit gamma 1 |
| Synonyms |
D6Ertd71e, Copg, D6Wsu16e |
| MMRRC Submission |
038766-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R0576 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
87864801-87890577 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87874945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 380
(V380D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113607]
|
| AlphaFold |
Q9QZE5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113607
AA Change: V380D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109237
Gene: ENSMUSG00000030058
AA Change: V380D
| 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: ENSMUST00000137717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149907
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152175
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205234
|
| Meta Mutation Damage Score |
0.9598 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
| Validation Efficiency |
92% (47/51) |
| Allele List at MGI |
All alleles(58) : Targeted, other(2) Gene trapped(56) |
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc77 |
T |
A |
6: 120,308,809 (GRCm39) |
L335F |
probably benign |
Het |
| Ccr3 |
T |
A |
9: 123,829,046 (GRCm39) |
F127Y |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,785,579 (GRCm39) |
N437S |
probably benign |
Het |
| Cfh |
A |
G |
1: 140,064,553 (GRCm39) |
V365A |
probably damaging |
Het |
| Cxxc1 |
T |
C |
18: 74,353,256 (GRCm39) |
I497T |
possibly damaging |
Het |
| Disp3 |
G |
A |
4: 148,326,047 (GRCm39) |
T1237I |
possibly damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,555,390 (GRCm39) |
F839L |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,675,246 (GRCm39) |
F360L |
probably benign |
Het |
| Dnhd1 |
C |
T |
7: 105,363,252 (GRCm39) |
A3938V |
probably damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,502,818 (GRCm39) |
D1000G |
probably damaging |
Het |
| Emsy |
A |
T |
7: 98,242,983 (GRCm39) |
V1052D |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,858,959 (GRCm39) |
|
probably benign |
Het |
| Fa2h |
T |
C |
8: 112,082,779 (GRCm39) |
H146R |
probably damaging |
Het |
| Gad1 |
G |
A |
2: 70,424,996 (GRCm39) |
C430Y |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,753,252 (GRCm39) |
S456P |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,187,202 (GRCm39) |
T1073A |
probably damaging |
Het |
| Hectd2 |
T |
G |
19: 36,562,897 (GRCm39) |
N3K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,525,768 (GRCm39) |
C3318* |
probably null |
Het |
| Lipo2 |
C |
T |
19: 33,726,824 (GRCm39) |
S71N |
probably benign |
Het |
| Mynn |
G |
T |
3: 30,661,217 (GRCm39) |
D100Y |
probably damaging |
Het |
| Myo16 |
G |
A |
8: 10,612,318 (GRCm39) |
|
probably null |
Het |
| Npr2 |
G |
T |
4: 43,640,947 (GRCm39) |
K384N |
probably benign |
Het |
| Nrde2 |
A |
G |
12: 100,098,492 (GRCm39) |
V725A |
possibly damaging |
Het |
| Or11h23 |
T |
A |
14: 50,948,661 (GRCm39) |
S291R |
probably damaging |
Het |
| Or2l13 |
A |
G |
16: 19,305,938 (GRCm39) |
M117V |
probably damaging |
Het |
| Otud7a |
C |
T |
7: 63,335,266 (GRCm39) |
P101S |
possibly damaging |
Het |
| Pcdhb7 |
T |
A |
18: 37,475,410 (GRCm39) |
L182Q |
probably benign |
Het |
| Pdss1 |
A |
G |
2: 22,805,425 (GRCm39) |
|
probably null |
Het |
| Ppargc1b |
T |
A |
18: 61,444,512 (GRCm39) |
H233L |
probably damaging |
Het |
| Ppm1b |
A |
G |
17: 85,320,987 (GRCm39) |
|
probably null |
Het |
| Prdm14 |
A |
T |
1: 13,195,949 (GRCm39) |
S37R |
possibly damaging |
Het |
| Prss45 |
A |
G |
9: 110,667,497 (GRCm39) |
T39A |
probably benign |
Het |
| Qars1 |
T |
C |
9: 108,392,161 (GRCm39) |
|
probably benign |
Het |
| Rxfp2 |
T |
G |
5: 149,961,712 (GRCm39) |
H77Q |
probably benign |
Het |
| Scd4 |
A |
G |
19: 44,329,685 (GRCm39) |
M219V |
probably benign |
Het |
| Sec24b |
G |
T |
3: 129,834,985 (GRCm39) |
P71Q |
probably benign |
Het |
| Snd1 |
T |
G |
6: 28,886,576 (GRCm39) |
V861G |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,441,876 (GRCm39) |
|
probably null |
Het |
| Tas2r129 |
A |
G |
6: 132,928,497 (GRCm39) |
T145A |
probably benign |
Het |
| Tbc1d31 |
T |
A |
15: 57,833,120 (GRCm39) |
I953N |
possibly damaging |
Het |
| Tlr4 |
A |
G |
4: 66,757,732 (GRCm39) |
N175S |
probably benign |
Het |
| Tspyl4 |
A |
G |
10: 34,174,518 (GRCm39) |
N337D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,642,545 (GRCm39) |
L13330H |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,089,756 (GRCm39) |
Y765* |
probably null |
Het |
| Vmn2r59 |
T |
A |
7: 41,696,529 (GRCm39) |
Y71F |
probably benign |
Het |
| Zbed6 |
A |
G |
1: 133,585,576 (GRCm39) |
F587S |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,467,161 (GRCm39) |
S2465P |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTGCCAAGACTGCCATATTTCCC -3'
(R):5'- CGCGGAAACAAGCCGTTTAACAG -3'
Sequencing Primer
(F):5'- GCCATATTTCCCCTGCCTTAG -3'
(R):5'- AGTGTTCTGAGCGTAACACC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation