Incidental Mutation 'R0701:Copg1'
| ID |
63009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copg1
|
| Ensembl Gene |
ENSMUSG00000030058 |
| Gene Name |
coatomer protein complex, subunit gamma 1 |
| Synonyms |
D6Ertd71e, Copg, D6Wsu16e |
| MMRRC Submission |
038884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R0701 (G1)
|
| Quality Score |
135 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
87864801-87890577 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 87871089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 268
(Y268*)
|
| 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 |
probably null
Transcript: ENSMUST00000113607
AA Change: Y268*
|
| SMART Domains |
Protein: ENSMUSP00000109237
Gene: ENSMUSG00000030058
AA Change: Y268*
| 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: ENSMUST00000205234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203240
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 91.3%
|
| Validation Efficiency |
|
| 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 |
|---|
| Ada |
A |
G |
2: 163,571,995 (GRCm39) |
V261A |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 15,012,636 (GRCm39) |
V320E |
probably damaging |
Het |
| Arhgef11 |
G |
T |
3: 87,640,766 (GRCm39) |
A1308S |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,877 (GRCm39) |
E473K |
probably damaging |
Het |
| Bsph1 |
G |
T |
7: 13,206,181 (GRCm39) |
C72F |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,227,499 (GRCm39) |
L186P |
probably damaging |
Het |
| C9 |
A |
C |
15: 6,496,902 (GRCm39) |
T200P |
probably damaging |
Het |
| Cald1 |
AAGAGAGAGAGAGAG |
AAGAGAGAGAGAG |
6: 34,723,108 (GRCm39) |
|
probably null |
Het |
| Chd1 |
C |
A |
17: 15,945,693 (GRCm39) |
N72K |
probably benign |
Het |
| Csad |
A |
G |
15: 102,087,571 (GRCm39) |
S331P |
probably benign |
Het |
| Ddx31 |
G |
T |
2: 28,748,789 (GRCm39) |
R239L |
probably null |
Het |
| Fat1 |
G |
T |
8: 45,479,590 (GRCm39) |
A2879S |
probably benign |
Het |
| Fig4 |
T |
A |
10: 41,116,508 (GRCm39) |
R628* |
probably null |
Het |
| Fmnl3 |
T |
C |
15: 99,219,188 (GRCm39) |
N778S |
probably damaging |
Het |
| Gm10912 |
T |
C |
2: 103,896,875 (GRCm39) |
S5P |
probably benign |
Het |
| Haus3 |
G |
A |
5: 34,323,359 (GRCm39) |
T417M |
probably benign |
Het |
| Herc1 |
T |
G |
9: 66,395,232 (GRCm39) |
V4189G |
probably damaging |
Het |
| Hoxb3 |
C |
A |
11: 96,237,074 (GRCm39) |
S384* |
probably null |
Het |
| Ifnar2 |
A |
G |
16: 91,201,117 (GRCm39) |
T453A |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,309,907 (GRCm39) |
T1105A |
probably benign |
Het |
| Kmt2e |
T |
C |
5: 23,678,581 (GRCm39) |
V220A |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 103,069,905 (GRCm39) |
V37E |
probably benign |
Het |
| Lrrn4 |
G |
A |
2: 132,712,080 (GRCm39) |
T581M |
probably benign |
Het |
| Mcur1 |
T |
C |
13: 43,699,216 (GRCm39) |
Y267C |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,699,263 (GRCm39) |
D1313E |
probably benign |
Het |
| Med13 |
T |
A |
11: 86,197,864 (GRCm39) |
T736S |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,314,677 (GRCm39) |
I503K |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,953,094 (GRCm39) |
F1089L |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,797,655 (GRCm39) |
I221N |
probably damaging |
Het |
| Or4c10 |
A |
G |
2: 89,760,545 (GRCm39) |
T131A |
probably benign |
Het |
| Or4k48 |
C |
T |
2: 111,476,136 (GRCm39) |
V69I |
probably benign |
Het |
| Pdgfd |
A |
T |
9: 6,359,706 (GRCm39) |
D259V |
probably damaging |
Het |
| Pramel22 |
C |
T |
4: 143,383,010 (GRCm39) |
E70K |
possibly damaging |
Het |
| R3hdm1 |
A |
G |
1: 128,109,476 (GRCm39) |
Y309C |
probably damaging |
Het |
| Rab27b |
A |
T |
18: 70,118,270 (GRCm39) |
C216S |
probably damaging |
Het |
| Robo2 |
A |
G |
16: 73,843,762 (GRCm39) |
I151T |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,783,747 (GRCm39) |
D227G |
probably damaging |
Het |
| Sis |
G |
T |
3: 72,848,378 (GRCm39) |
T632K |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,668,941 (GRCm39) |
Y30H |
probably damaging |
Het |
| Stap1 |
T |
C |
5: 86,242,667 (GRCm39) |
|
probably null |
Het |
| Syt16 |
G |
A |
12: 74,281,886 (GRCm39) |
V337I |
probably benign |
Het |
| Taf1c |
A |
T |
8: 120,326,722 (GRCm39) |
I438N |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,728,412 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
T |
A |
11: 82,831,031 (GRCm39) |
L797Q |
possibly damaging |
Het |
| Usp6nl |
A |
G |
2: 6,419,829 (GRCm39) |
E144G |
possibly damaging |
Het |
| Wiz |
A |
T |
17: 32,575,415 (GRCm39) |
I907N |
probably damaging |
Het |
| Zap70 |
G |
A |
1: 36,820,258 (GRCm39) |
R513Q |
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 |
|
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'- TTTGCCTACTGCATGATGATCCGAG -3'
(R):5'- ACTGAGATGGAACTGAAAACAGCCC -3'
Sequencing Primer
(F):5'- GGCCAGCAAGCAACTAGAG -3'
(R):5'- CAGCCCTCCTTTAAAGCAAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation