Incidental Mutation 'R5670:Copg1'
| ID |
442574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copg1
|
| Ensembl Gene |
ENSMUSG00000030058 |
| Gene Name |
coatomer protein complex, subunit gamma 1 |
| Synonyms |
D6Ertd71e, Copg, D6Wsu16e |
| MMRRC Submission |
043313-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R5670 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
87864801-87890577 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87889217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 853
(T853M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032141]
[ENSMUST00000113606]
[ENSMUST00000113607]
[ENSMUST00000204232]
|
| AlphaFold |
Q9QZE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032141
|
| SMART Domains |
Protein: ENSMUSP00000032141
Gene: ENSMUSG00000030060
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRAP
|
1 |
262 |
4.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113606
|
| SMART Domains |
Protein: ENSMUSP00000109236
Gene: ENSMUSG00000030060
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF159
|
1 |
263 |
9.4e-57 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113607
AA Change: T853M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109237
Gene: ENSMUSG00000030058
AA Change: T853M
| 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: ENSMUST00000132651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149907
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181696
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204614
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(58) : Targeted, other(2) Gene trapped(56) |
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930524J08Rik |
T |
C |
5: 100,127,068 (GRCm39) |
|
probably benign |
Het |
| Ahsg |
T |
A |
16: 22,716,913 (GRCm39) |
N158K |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,004,774 (GRCm39) |
M430T |
probably benign |
Het |
| Becn2 |
C |
T |
1: 175,749,179 (GRCm39) |
T415M |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,384,759 (GRCm39) |
M588K |
probably damaging |
Het |
| Btla |
A |
T |
16: 45,070,782 (GRCm39) |
D247V |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,684,559 (GRCm39) |
|
probably null |
Het |
| Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,463,300 (GRCm39) |
|
probably null |
Het |
| Ddb2 |
C |
T |
2: 91,042,926 (GRCm39) |
V353M |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,087,985 (GRCm39) |
D973G |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,519,364 (GRCm39) |
T791I |
probably benign |
Het |
| Dtd2 |
T |
A |
12: 52,046,643 (GRCm39) |
L65F |
probably damaging |
Het |
| Fer1l6 |
C |
T |
15: 58,494,331 (GRCm39) |
P1175S |
probably benign |
Het |
| Fzd6 |
A |
T |
15: 38,894,510 (GRCm39) |
R225S |
probably benign |
Het |
| Glce |
A |
G |
9: 61,967,793 (GRCm39) |
S453P |
probably damaging |
Het |
| Gm4787 |
G |
A |
12: 81,424,805 (GRCm39) |
T451I |
probably benign |
Het |
| Igkv8-18 |
C |
T |
6: 70,333,133 (GRCm39) |
T25I |
probably benign |
Het |
| Ikzf2 |
A |
G |
1: 69,617,059 (GRCm39) |
V96A |
probably benign |
Het |
| Ilkap |
T |
C |
1: 91,318,863 (GRCm39) |
T38A |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,739,250 (GRCm39) |
T353A |
probably benign |
Het |
| Mfsd8 |
A |
T |
3: 40,776,484 (GRCm39) |
N389K |
probably benign |
Het |
| Mttp |
A |
T |
3: 137,830,874 (GRCm39) |
V65D |
probably damaging |
Het |
| Ndufaf4 |
A |
T |
4: 24,898,636 (GRCm39) |
D64V |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,507,462 (GRCm39) |
T213A |
probably benign |
Het |
| Nkain4 |
A |
G |
2: 180,584,995 (GRCm39) |
L73P |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 73,419,745 (GRCm39) |
S977T |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,006 (GRCm39) |
V251D |
probably benign |
Het |
| Or2y1d |
T |
G |
11: 49,322,035 (GRCm39) |
L244R |
probably damaging |
Het |
| Or4b12 |
T |
C |
2: 90,096,308 (GRCm39) |
I155M |
probably benign |
Het |
| Or5k1 |
G |
A |
16: 58,617,424 (GRCm39) |
P262S |
possibly damaging |
Het |
| Pdgfra |
T |
C |
5: 75,334,156 (GRCm39) |
S410P |
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,627,078 (GRCm39) |
M456V |
probably damaging |
Het |
| Pi16 |
C |
T |
17: 29,545,870 (GRCm39) |
T216I |
probably damaging |
Het |
| Plekha2 |
C |
A |
8: 25,549,254 (GRCm39) |
A177S |
probably benign |
Het |
| Pramel29 |
A |
G |
4: 143,936,192 (GRCm39) |
S23P |
probably benign |
Het |
| Prss16 |
C |
T |
13: 22,187,221 (GRCm39) |
V450I |
possibly damaging |
Het |
| Rab3gap2 |
T |
A |
1: 185,009,402 (GRCm39) |
L1086H |
probably damaging |
Het |
| Rab3gap2 |
C |
T |
1: 184,954,096 (GRCm39) |
P56L |
probably benign |
Het |
| Rgs21 |
A |
G |
1: 144,412,680 (GRCm39) |
V48A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,325,512 (GRCm39) |
|
probably null |
Het |
| Slc4a2 |
G |
T |
5: 24,639,836 (GRCm39) |
V506L |
probably damaging |
Het |
| Sptbn5 |
C |
G |
2: 119,916,048 (GRCm39) |
|
probably benign |
Het |
| Steap2 |
C |
T |
5: 5,723,681 (GRCm39) |
V400I |
probably benign |
Het |
| Syne2 |
G |
A |
12: 75,997,733 (GRCm39) |
G2236D |
probably benign |
Het |
| Tespa1 |
T |
C |
10: 130,190,624 (GRCm39) |
S84P |
probably damaging |
Het |
| Tlx2 |
G |
A |
6: 83,046,807 (GRCm39) |
A85V |
possibly damaging |
Het |
| Tm4sf1 |
A |
T |
3: 57,200,508 (GRCm39) |
F65I |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,256,253 (GRCm39) |
I456V |
probably damaging |
Het |
| Tpte |
C |
T |
8: 22,817,764 (GRCm39) |
S250F |
probably damaging |
Het |
| Trim24 |
T |
C |
6: 37,942,536 (GRCm39) |
F946S |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,146,910 (GRCm39) |
Y459* |
probably null |
Het |
| Vps54 |
T |
A |
11: 21,214,864 (GRCm39) |
I112N |
probably damaging |
Het |
| Vwa1 |
A |
G |
4: 155,858,922 (GRCm39) |
L13P |
probably damaging |
Het |
| Zfp648 |
C |
A |
1: 154,079,963 (GRCm39) |
Q41K |
probably benign |
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 |
|
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'- CCTTAAGGGTTCCAGAGCTC -3'
(R):5'- GTTTCTTAACACAGTGGTCTGG -3'
Sequencing Primer
(F):5'- AGTGAGAGTTGTCCAGGCCTC -3'
(R):5'- CACAGTGGTCTGGGGAAGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation