Incidental Mutation 'R1251:Copg1'
| ID |
151752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copg1
|
| Ensembl Gene |
ENSMUSG00000030058 |
| Gene Name |
coatomer protein complex, subunit gamma 1 |
| Synonyms |
D6Ertd71e, Copg, D6Wsu16e |
| MMRRC Submission |
039318-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R1251 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
87887814-87913595 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 87890007 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 75
(K75*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049966]
[ENSMUST00000113607]
|
| AlphaFold |
Q9QZE5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049966
AA Change: K75*
|
| SMART Domains |
Protein: ENSMUSP00000050858
Gene: ENSMUSG00000030058
AA Change: K75*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
23 |
109 |
2e-18 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113607
AA Change: K75*
|
| SMART Domains |
Protein: ENSMUSP00000109237
Gene: ENSMUSG00000030058
AA Change: K75*
| 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: ENSMUST00000137717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205234
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(58) : Targeted, other(2) Gene trapped(56) |
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 123,962,052 (GRCm38) |
G495D |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 31,108,171 (GRCm38) |
Y509N |
probably damaging |
Het |
| Adcy9 |
T |
A |
16: 4,311,531 (GRCm38) |
E497V |
probably damaging |
Het |
| Bcat2 |
T |
G |
7: 45,575,986 (GRCm38) |
L56R |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,293,372 (GRCm38) |
M952V |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,826,480 (GRCm38) |
K446R |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,601,265 (GRCm38) |
V2607I |
probably benign |
Het |
| Clec18a |
T |
C |
8: 111,081,638 (GRCm38) |
I54V |
possibly damaging |
Het |
| Coil |
A |
G |
11: 88,982,299 (GRCm38) |
E455G |
possibly damaging |
Het |
| Cyp2j12 |
G |
A |
4: 96,115,666 (GRCm38) |
Q238* |
probably null |
Het |
| D17Wsu92e |
C |
T |
17: 27,786,070 (GRCm38) |
|
probably null |
Het |
| Eif3i |
T |
C |
4: 129,593,385 (GRCm38) |
E229G |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 30,886,276 (GRCm38) |
N411Y |
probably benign |
Het |
| Eya2 |
T |
A |
2: 165,754,484 (GRCm38) |
M305K |
probably damaging |
Het |
| Faim |
C |
T |
9: 98,992,634 (GRCm38) |
T78M |
probably damaging |
Het |
| Fgg |
T |
A |
3: 83,012,980 (GRCm38) |
D355E |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,358,785 (GRCm38) |
L638P |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,386,015 (GRCm38) |
E664D |
possibly damaging |
Het |
| Il1rn |
A |
G |
2: 24,345,570 (GRCm38) |
R21G |
probably damaging |
Het |
| Inpp4b |
G |
A |
8: 81,890,753 (GRCm38) |
G220R |
probably benign |
Het |
| Irx6 |
A |
G |
8: 92,678,253 (GRCm38) |
S250G |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,634,483 (GRCm38) |
I246T |
probably benign |
Het |
| Mcm3 |
G |
A |
1: 20,812,672 (GRCm38) |
Q353* |
probably null |
Het |
| Mfhas1 |
A |
G |
8: 35,591,053 (GRCm38) |
Y894C |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,372,053 (GRCm38) |
L348P |
probably damaging |
Het |
| Necab1 |
A |
G |
4: 15,111,192 (GRCm38) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,463,842 (GRCm38) |
S160T |
possibly damaging |
Het |
| Npc2 |
A |
G |
12: 84,760,884 (GRCm38) |
S67P |
probably damaging |
Het |
| Olfr1036 |
G |
A |
2: 86,074,820 (GRCm38) |
V27M |
probably benign |
Het |
| Olfr513 |
T |
G |
7: 108,754,907 (GRCm38) |
F17C |
probably damaging |
Het |
| Pcnx3 |
A |
G |
19: 5,677,182 (GRCm38) |
F1108L |
probably benign |
Het |
| Phf21a |
G |
A |
2: 92,359,199 (GRCm38) |
S601N |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,535,051 (GRCm38) |
V842I |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,543,234 (GRCm38) |
|
probably null |
Het |
| Setd1a |
T |
A |
7: 127,797,424 (GRCm38) |
|
probably benign |
Het |
| Sgo2a |
A |
T |
1: 57,999,962 (GRCm38) |
|
probably null |
Het |
| Sult2a8 |
T |
A |
7: 14,425,425 (GRCm38) |
K90* |
probably null |
Het |
| Tlr2 |
T |
C |
3: 83,838,269 (GRCm38) |
D169G |
possibly damaging |
Het |
| Tmem95 |
A |
G |
11: 69,876,829 (GRCm38) |
F153S |
probably benign |
Het |
| Tube1 |
G |
T |
10: 39,134,208 (GRCm38) |
G10* |
probably null |
Het |
| Vmn2r10 |
T |
C |
5: 108,996,024 (GRCm38) |
M687V |
probably benign |
Het |
| Zc3h8 |
G |
A |
2: 128,935,369 (GRCm38) |
P117S |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,705,089 (GRCm38) |
D18E |
probably damaging |
Het |
|
| Other mutations in Copg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Copg1
|
APN |
6 |
87,902,370 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL00816:Copg1
|
APN |
6 |
87,893,898 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02087:Copg1
|
APN |
6 |
87,902,210 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0194:Copg1
|
UTSW |
6 |
87,904,197 (GRCm38) |
splice site |
probably benign |
|
|
R0448:Copg1
|
UTSW |
6 |
87,904,926 (GRCm38) |
missense |
probably benign |
|
|
R0576:Copg1
|
UTSW |
6 |
87,897,963 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0701:Copg1
|
UTSW |
6 |
87,894,107 (GRCm38) |
nonsense |
probably null |
|
|
R1707:Copg1
|
UTSW |
6 |
87,905,210 (GRCm38) |
missense |
probably benign |
|
|
R1845:Copg1
|
UTSW |
6 |
87,893,818 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3500:Copg1
|
UTSW |
6 |
87,895,923 (GRCm38) |
splice site |
probably benign |
|
|
R3952:Copg1
|
UTSW |
6 |
87,905,216 (GRCm38) |
missense |
probably benign |
|
|
R4283:Copg1
|
UTSW |
6 |
87,908,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4515:Copg1
|
UTSW |
6 |
87,907,546 (GRCm38) |
intron |
probably benign |
|
|
R4715:Copg1
|
UTSW |
6 |
87,912,286 (GRCm38) |
nonsense |
probably null |
|
|
R4797:Copg1
|
UTSW |
6 |
87,903,468 (GRCm38) |
intron |
probably benign |
|
|
R4864:Copg1
|
UTSW |
6 |
87,889,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4947:Copg1
|
UTSW |
6 |
87,903,473 (GRCm38) |
splice site |
probably benign |
|
|
R5265:Copg1
|
UTSW |
6 |
87,892,270 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5288:Copg1
|
UTSW |
6 |
87,890,207 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5386:Copg1
|
UTSW |
6 |
87,890,207 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5511:Copg1
|
UTSW |
6 |
87,912,294 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5670:Copg1
|
UTSW |
6 |
87,912,235 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5887:Copg1
|
UTSW |
6 |
87,902,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7014:Copg1
|
UTSW |
6 |
87,902,340 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7021:Copg1
|
UTSW |
6 |
87,894,105 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7380:Copg1
|
UTSW |
6 |
87,893,842 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7392:Copg1
|
UTSW |
6 |
87,890,275 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7629:Copg1
|
UTSW |
6 |
87,894,169 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7704:Copg1
|
UTSW |
6 |
87,907,958 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8060:Copg1
|
UTSW |
6 |
87,909,721 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8184:Copg1
|
UTSW |
6 |
87,890,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8683:Copg1
|
UTSW |
6 |
87,892,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9320:Copg1
|
UTSW |
6 |
87,910,090 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R9433:Copg1
|
UTSW |
6 |
87,903,496 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9564:Copg1
|
UTSW |
6 |
87,892,701 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9660:Copg1
|
UTSW |
6 |
87,902,243 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9709:Copg1
|
UTSW |
6 |
87,891,975 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9728:Copg1
|
UTSW |
6 |
87,902,243 (GRCm38) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAGCTCTGTGATTGGAACCAAC -3'
(R):5'- ATGACATCCTCAGCGATGCAGGAC -3'
Sequencing Primer
(F):5'- GGCTCTCATTTGTTGCCTGT -3'
(R):5'- CCTTGATGGTCAAATAGCACATGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation