Incidental Mutation 'R0105:Cog3'
| ID |
17418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cog3
|
| Ensembl Gene |
ENSMUSG00000034893 |
| Gene Name |
component of oligomeric golgi complex 3 |
| Synonyms |
|
| MMRRC Submission |
038391-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0105 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75939790-75991998 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75959580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 591
(S591P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049168]
[ENSMUST00000227473]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049168
AA Change: S591P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045016
Gene: ENSMUSG00000034893
AA Change: S591P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:Sec34
|
130 |
277 |
9.5e-57 |
PFAM |
|
Blast:HisKA
|
745 |
810 |
1e-5 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226686
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227473
AA Change: S581P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.9105 |
| Coding Region Coverage |
- 1x: 85.3%
- 3x: 77.7%
- 10x: 47.9%
- 20x: 15.1%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530053G22Rik |
T |
C |
6: 60,379,137 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy9 |
A |
G |
16: 4,106,252 (GRCm39) |
V954A |
probably damaging |
Het |
| Aldh8a1 |
T |
A |
10: 21,271,438 (GRCm39) |
M388K |
probably damaging |
Het |
| Cdsn |
A |
C |
17: 35,867,035 (GRCm39) |
R521S |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,216,876 (GRCm39) |
V698D |
probably benign |
Het |
| Crmp1 |
T |
A |
5: 37,441,479 (GRCm39) |
D520E |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,848,147 (GRCm39) |
D507G |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,132,262 (GRCm39) |
A1147T |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,111 (GRCm39) |
S1030P |
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,518,140 (GRCm39) |
E218G |
probably damaging |
Het |
| Gab2 |
T |
C |
7: 96,948,279 (GRCm39) |
Y290H |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,621,633 (GRCm39) |
Q591R |
probably null |
Het |
| Gsdmc2 |
T |
C |
15: 63,700,026 (GRCm39) |
T249A |
probably benign |
Het |
| Il15ra |
T |
A |
2: 11,735,459 (GRCm39) |
|
probably null |
Het |
| Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
| Krt76 |
T |
C |
15: 101,793,347 (GRCm39) |
T564A |
unknown |
Het |
| Lrrk1 |
G |
T |
7: 65,942,089 (GRCm39) |
D716E |
probably damaging |
Het |
| Mogat1 |
A |
G |
1: 78,500,307 (GRCm39) |
T124A |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,568,467 (GRCm39) |
T48A |
possibly damaging |
Het |
| Or4a71 |
T |
C |
2: 89,358,707 (GRCm39) |
T16A |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,593,956 (GRCm39) |
Q1386* |
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,345,325 (GRCm39) |
R344G |
possibly damaging |
Het |
| Plekhg4 |
G |
A |
8: 106,108,644 (GRCm39) |
V1202M |
possibly damaging |
Het |
| Ppil4 |
A |
G |
10: 7,674,210 (GRCm39) |
Y118C |
probably damaging |
Het |
| Ptpn4 |
C |
T |
1: 119,615,335 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
A |
5: 22,253,813 (GRCm39) |
R600W |
probably damaging |
Het |
| Sumf2 |
T |
A |
5: 129,878,735 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
C |
A |
4: 48,468,957 (GRCm39) |
V73F |
probably damaging |
Het |
| Tgm5 |
C |
A |
2: 120,907,493 (GRCm39) |
G77W |
probably damaging |
Het |
| Tnfrsf21 |
T |
A |
17: 43,351,082 (GRCm39) |
|
probably null |
Het |
| Treml2 |
C |
T |
17: 48,609,856 (GRCm39) |
T96I |
probably damaging |
Het |
| Zcchc17 |
T |
A |
4: 130,243,099 (GRCm39) |
D28V |
probably benign |
Het |
| Zkscan6 |
T |
A |
11: 65,712,811 (GRCm39) |
L248Q |
probably damaging |
Het |
|
| Other mutations in Cog3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02019:Cog3
|
APN |
14 |
75,968,044 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02637:Cog3
|
APN |
14 |
75,959,636 (GRCm39) |
splice site |
probably benign |
|
|
IGL02934:Cog3
|
APN |
14 |
75,979,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0105:Cog3
|
UTSW |
14 |
75,959,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0403:Cog3
|
UTSW |
14 |
75,979,767 (GRCm39) |
splice site |
probably benign |
|
|
R0972:Cog3
|
UTSW |
14 |
75,954,610 (GRCm39) |
missense |
probably benign |
|
|
R1735:Cog3
|
UTSW |
14 |
75,966,761 (GRCm39) |
nonsense |
probably null |
|
|
R1813:Cog3
|
UTSW |
14 |
75,979,784 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1896:Cog3
|
UTSW |
14 |
75,979,784 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2517:Cog3
|
UTSW |
14 |
75,979,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2567:Cog3
|
UTSW |
14 |
75,991,730 (GRCm39) |
missense |
probably benign |
|
|
R2962:Cog3
|
UTSW |
14 |
75,977,974 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3103:Cog3
|
UTSW |
14 |
75,984,641 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3689:Cog3
|
UTSW |
14 |
75,991,878 (GRCm39) |
start codon destroyed |
probably null |
|
|
R3691:Cog3
|
UTSW |
14 |
75,991,878 (GRCm39) |
start codon destroyed |
probably null |
|
|
R3927:Cog3
|
UTSW |
14 |
75,980,998 (GRCm39) |
splice site |
probably benign |
|
|
R4581:Cog3
|
UTSW |
14 |
75,970,391 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4932:Cog3
|
UTSW |
14 |
75,970,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5560:Cog3
|
UTSW |
14 |
75,966,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Cog3
|
UTSW |
14 |
75,962,239 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6253:Cog3
|
UTSW |
14 |
75,957,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Cog3
|
UTSW |
14 |
75,962,178 (GRCm39) |
nonsense |
probably null |
|
|
R6791:Cog3
|
UTSW |
14 |
75,968,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6803:Cog3
|
UTSW |
14 |
75,941,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7015:Cog3
|
UTSW |
14 |
75,950,716 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7998:Cog3
|
UTSW |
14 |
75,984,533 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7999:Cog3
|
UTSW |
14 |
75,984,533 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8075:Cog3
|
UTSW |
14 |
75,968,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8294:Cog3
|
UTSW |
14 |
75,954,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8329:Cog3
|
UTSW |
14 |
75,978,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8434:Cog3
|
UTSW |
14 |
75,979,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9170:Cog3
|
UTSW |
14 |
75,966,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0017:Cog3
|
UTSW |
14 |
75,979,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0021:Cog3
|
UTSW |
14 |
75,981,033 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0066:Cog3
|
UTSW |
14 |
75,979,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-01-31 |
Incidental Mutation