Incidental Mutation 'R0356:Cog5'
| ID |
29838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cog5
|
| Ensembl Gene |
ENSMUSG00000035933 |
| Gene Name |
component of oligomeric golgi complex 5 |
| Synonyms |
GTC90, GOLTC1, 5430405C01Rik |
| MMRRC Submission |
038562-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.890)
|
| Stock # |
R0356 (G1)
|
| Quality Score |
166 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
31704868-31987629 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 31887180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036862]
|
| AlphaFold |
Q8C0L8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036862
|
| SMART Domains |
Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
Pfam:COG5
|
35 |
158 |
3.8e-37 |
PFAM |
|
Pfam:Vps51
|
37 |
120 |
1.8e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.6%
- 10x: 94.4%
- 20x: 86.1%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]
|
| Allele List at MGI |
All alleles(99) : Gene trapped(99) |
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
T |
C |
2: 32,464,418 (GRCm39) |
|
probably benign |
Het |
| Adgrg6 |
C |
T |
10: 14,302,642 (GRCm39) |
V924M |
possibly damaging |
Het |
| Anxa9 |
A |
G |
3: 95,215,387 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
G |
T |
10: 80,563,812 (GRCm39) |
S122R |
probably damaging |
Het |
| Arhgap5 |
T |
C |
12: 52,563,091 (GRCm39) |
S21P |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,167,573 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,731,155 (GRCm39) |
D618V |
probably damaging |
Het |
| Cbfa2t2 |
T |
A |
2: 154,373,269 (GRCm39) |
D475E |
probably benign |
Het |
| Ccdc202 |
T |
A |
14: 96,119,801 (GRCm39) |
V186E |
possibly damaging |
Het |
| Ccdc62 |
G |
A |
5: 124,092,811 (GRCm39) |
V599I |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,786,953 (GRCm39) |
E917G |
probably damaging |
Het |
| Col9a1 |
T |
A |
1: 24,224,328 (GRCm39) |
L170* |
probably null |
Het |
| Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 66,021,388 (GRCm39) |
|
probably null |
Het |
| Drg2 |
T |
A |
11: 60,352,407 (GRCm39) |
V203E |
probably damaging |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,865,930 (GRCm39) |
Y1586C |
probably damaging |
Het |
| Gp6 |
A |
T |
7: 4,373,141 (GRCm39) |
|
probably benign |
Het |
| Hhip |
T |
C |
8: 80,724,121 (GRCm39) |
I374V |
probably benign |
Het |
| Hspa12b |
G |
T |
2: 130,986,719 (GRCm39) |
V547L |
possibly damaging |
Het |
| Iars1 |
G |
A |
13: 49,856,709 (GRCm39) |
V321I |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,187,532 (GRCm39) |
M716V |
possibly damaging |
Het |
| Lcn5 |
T |
C |
2: 25,550,705 (GRCm39) |
I131T |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,306,135 (GRCm39) |
T614M |
probably benign |
Het |
| Mmp3 |
G |
A |
9: 7,451,768 (GRCm39) |
E369K |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,861,500 (GRCm39) |
D94G |
unknown |
Het |
| Neil1 |
T |
C |
9: 57,054,180 (GRCm39) |
I47V |
possibly damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,773,430 (GRCm39) |
N424S |
possibly damaging |
Het |
| Or1e21 |
A |
T |
11: 73,344,906 (GRCm39) |
I44N |
possibly damaging |
Het |
| Or51f5 |
A |
T |
7: 102,424,286 (GRCm39) |
D185V |
probably damaging |
Het |
| Or5b120 |
A |
G |
19: 13,480,441 (GRCm39) |
T245A |
possibly damaging |
Het |
| Or7e166 |
G |
T |
9: 19,624,743 (GRCm39) |
G207C |
probably damaging |
Het |
| Pakap |
C |
A |
4: 57,855,628 (GRCm39) |
T360K |
possibly damaging |
Het |
| Pde8b |
G |
T |
13: 95,182,962 (GRCm39) |
N265K |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,203,080 (GRCm39) |
|
probably null |
Het |
| Samd9l |
T |
C |
6: 3,375,107 (GRCm39) |
D718G |
possibly damaging |
Het |
| Sirpb1c |
T |
C |
3: 15,887,309 (GRCm39) |
N175D |
possibly damaging |
Het |
| Srgap1 |
A |
T |
10: 121,691,441 (GRCm39) |
|
probably null |
Het |
| Tgm5 |
T |
A |
2: 120,884,055 (GRCm39) |
T313S |
probably damaging |
Het |
| Tigar |
A |
G |
6: 127,068,145 (GRCm39) |
|
probably null |
Het |
| Tmprss11b |
A |
G |
5: 86,808,326 (GRCm39) |
*417Q |
probably null |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Ttll11 |
T |
C |
2: 35,792,688 (GRCm39) |
D385G |
possibly damaging |
Het |
| Zfp426 |
T |
C |
9: 20,382,541 (GRCm39) |
T135A |
probably benign |
Het |
|
| Other mutations in Cog5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Cog5
|
APN |
12 |
31,735,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00495:Cog5
|
APN |
12 |
31,887,308 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00763:Cog5
|
APN |
12 |
31,715,531 (GRCm39) |
splice site |
probably benign |
|
|
IGL00789:Cog5
|
APN |
12 |
31,810,951 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01288:Cog5
|
APN |
12 |
31,936,205 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01315:Cog5
|
APN |
12 |
31,810,985 (GRCm39) |
splice site |
probably benign |
|
|
IGL01396:Cog5
|
APN |
12 |
31,944,095 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02468:Cog5
|
APN |
12 |
31,887,357 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03030:Cog5
|
APN |
12 |
31,840,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03346:Cog5
|
APN |
12 |
31,944,037 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0201:Cog5
|
UTSW |
12 |
31,889,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0492:Cog5
|
UTSW |
12 |
31,919,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Cog5
|
UTSW |
12 |
31,887,358 (GRCm39) |
splice site |
probably benign |
|
|
R0971:Cog5
|
UTSW |
12 |
31,969,677 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1158:Cog5
|
UTSW |
12 |
31,920,056 (GRCm39) |
splice site |
probably benign |
|
|
R1997:Cog5
|
UTSW |
12 |
31,710,848 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2167:Cog5
|
UTSW |
12 |
31,887,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4414:Cog5
|
UTSW |
12 |
31,710,853 (GRCm39) |
nonsense |
probably null |
|
|
R4755:Cog5
|
UTSW |
12 |
31,919,405 (GRCm39) |
splice site |
probably null |
|
|
R4836:Cog5
|
UTSW |
12 |
31,969,732 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5017:Cog5
|
UTSW |
12 |
31,970,604 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5256:Cog5
|
UTSW |
12 |
31,936,204 (GRCm39) |
missense |
probably benign |
|
|
R5986:Cog5
|
UTSW |
12 |
31,710,716 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6131:Cog5
|
UTSW |
12 |
31,936,220 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6885:Cog5
|
UTSW |
12 |
31,944,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7056:Cog5
|
UTSW |
12 |
31,715,468 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7177:Cog5
|
UTSW |
12 |
31,810,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Cog5
|
UTSW |
12 |
31,735,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7418:Cog5
|
UTSW |
12 |
31,883,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7445:Cog5
|
UTSW |
12 |
31,969,671 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7585:Cog5
|
UTSW |
12 |
31,810,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8332:Cog5
|
UTSW |
12 |
31,883,222 (GRCm39) |
nonsense |
probably null |
|
|
R8722:Cog5
|
UTSW |
12 |
31,969,703 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8781:Cog5
|
UTSW |
12 |
31,883,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Cog5
|
UTSW |
12 |
31,883,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Cog5
|
UTSW |
12 |
31,840,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9153:Cog5
|
UTSW |
12 |
31,710,810 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0062:Cog5
|
UTSW |
12 |
31,735,691 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Cog5
|
UTSW |
12 |
31,851,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGAGATGGTTAGCATCAGCG -3'
(R):5'- CTAGGAGGCCATTCCATCAGCAAG -3'
Sequencing Primer
(F):5'- TTTCAGGGGACTGCCAATAC -3'
(R):5'- GCAAGGCGTACCTTGTTATAGTC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation