Incidental Mutation 'R5986:Cog5'
| ID |
481665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cog5
|
| Ensembl Gene |
ENSMUSG00000035933 |
| Gene Name |
component of oligomeric golgi complex 5 |
| Synonyms |
GTC90, GOLTC1, 5430405C01Rik |
| MMRRC Submission |
044166-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
R5986 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
31704868-31987629 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31710716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 32
(D32V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036862]
|
| AlphaFold |
Q8C0L8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036862
AA Change: D32V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933
AA Change: D32V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,566,145 (GRCm39) |
F992I |
probably damaging |
Het |
| Ampd1 |
T |
C |
3: 102,992,713 (GRCm39) |
F152L |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,806,335 (GRCm39) |
H602R |
possibly damaging |
Het |
| Ankib1 |
T |
C |
5: 3,797,071 (GRCm39) |
D247G |
probably damaging |
Het |
| Bccip |
T |
A |
7: 133,322,594 (GRCm39) |
H313Q |
probably benign |
Het |
| Ccdc198 |
A |
T |
14: 49,470,403 (GRCm39) |
L172H |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,821,197 (GRCm39) |
E929G |
probably damaging |
Het |
| Chl1 |
C |
A |
6: 103,686,152 (GRCm39) |
L954I |
probably benign |
Het |
| Cyp4f16 |
C |
A |
17: 32,763,116 (GRCm39) |
A187E |
probably benign |
Het |
| Dffb |
A |
T |
4: 154,050,050 (GRCm39) |
V271E |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,070,604 (GRCm39) |
Y4430C |
possibly damaging |
Het |
| Dpp3 |
T |
C |
19: 4,968,385 (GRCm39) |
E229G |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,909,613 (GRCm39) |
N2130Y |
probably benign |
Het |
| Kcnk3 |
T |
C |
5: 30,745,722 (GRCm39) |
V21A |
possibly damaging |
Het |
| Kif9 |
G |
A |
9: 110,319,094 (GRCm39) |
S186N |
probably benign |
Het |
| Lhfpl3 |
C |
A |
5: 22,951,424 (GRCm39) |
N78K |
probably benign |
Het |
| Ly6c1 |
A |
G |
15: 74,917,457 (GRCm39) |
S64P |
probably damaging |
Het |
| Mapk10 |
T |
C |
5: 103,186,446 (GRCm39) |
T59A |
probably benign |
Het |
| Mars1 |
A |
T |
10: 127,140,171 (GRCm39) |
C394* |
probably null |
Het |
| Mettl16 |
T |
A |
11: 74,683,063 (GRCm39) |
D168E |
possibly damaging |
Het |
| Mgat2 |
A |
T |
12: 69,232,158 (GRCm39) |
Q244L |
probably benign |
Het |
| Mrps30 |
A |
G |
13: 118,521,101 (GRCm39) |
|
probably null |
Het |
| Myrip |
C |
A |
9: 120,290,487 (GRCm39) |
A702E |
probably damaging |
Het |
| Nepn |
T |
C |
10: 52,280,168 (GRCm39) |
L420P |
probably damaging |
Het |
| Nrn1 |
A |
T |
13: 36,918,238 (GRCm39) |
Y9* |
probably null |
Het |
| Nup107 |
T |
C |
10: 117,595,081 (GRCm39) |
Y752C |
probably damaging |
Het |
| Nutm2 |
A |
T |
13: 50,628,496 (GRCm39) |
D520V |
probably damaging |
Het |
| Olfm2 |
C |
T |
9: 20,586,946 (GRCm39) |
C48Y |
probably damaging |
Het |
| Or52j3 |
T |
C |
7: 102,836,735 (GRCm39) |
F309S |
possibly damaging |
Het |
| Or8g19 |
A |
G |
9: 39,056,278 (GRCm39) |
N294S |
probably null |
Het |
| Osbpl1a |
T |
A |
18: 13,038,138 (GRCm39) |
D271V |
probably damaging |
Het |
| Osmr |
G |
T |
15: 6,873,934 (GRCm39) |
D154E |
probably benign |
Het |
| Pcdh9 |
A |
G |
14: 94,124,484 (GRCm39) |
V562A |
probably damaging |
Het |
| Peak1 |
A |
C |
9: 56,166,726 (GRCm39) |
S401A |
probably benign |
Het |
| Pigk |
A |
T |
3: 152,446,486 (GRCm39) |
H195L |
probably benign |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Ppp2r1a |
C |
T |
17: 21,171,608 (GRCm39) |
R28C |
probably damaging |
Het |
| Pramel30 |
G |
T |
4: 144,059,323 (GRCm39) |
V345F |
probably damaging |
Het |
| Ptbp3 |
T |
C |
4: 59,493,311 (GRCm39) |
D123G |
probably benign |
Het |
| Ptgr2 |
G |
A |
12: 84,355,120 (GRCm39) |
E285K |
possibly damaging |
Het |
| Rassf1 |
G |
T |
9: 107,429,021 (GRCm39) |
V76L |
possibly damaging |
Het |
| Sec22a |
A |
G |
16: 35,134,461 (GRCm39) |
V307A |
probably damaging |
Het |
| Skint5 |
C |
T |
4: 113,852,845 (GRCm39) |
V18I |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,516,151 (GRCm39) |
V109A |
probably benign |
Het |
| St8sia5 |
T |
A |
18: 77,342,478 (GRCm39) |
M396K |
possibly damaging |
Het |
| Tiam1 |
T |
C |
16: 89,586,074 (GRCm39) |
E602G |
probably benign |
Het |
| Tll1 |
T |
C |
8: 64,527,297 (GRCm39) |
E408G |
probably damaging |
Het |
| Tpsb2 |
G |
A |
17: 25,586,108 (GRCm39) |
V109M |
probably benign |
Het |
| Trib1 |
T |
A |
15: 59,526,451 (GRCm39) |
|
probably null |
Het |
| Trio |
G |
T |
15: 27,852,019 (GRCm39) |
A765E |
possibly damaging |
Het |
| Uggt2 |
A |
T |
14: 119,286,838 (GRCm39) |
V193E |
probably damaging |
Het |
| Vmn1r115 |
G |
A |
7: 20,578,447 (GRCm39) |
P155L |
probably benign |
Het |
| Wdr31 |
A |
G |
4: 62,374,113 (GRCm39) |
L292S |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,525,462 (GRCm39) |
I127T |
probably benign |
Het |
| Yju2 |
G |
A |
17: 56,269,030 (GRCm39) |
C46Y |
probably damaging |
Het |
| Zfp442 |
G |
A |
2: 150,249,944 (GRCm39) |
Q596* |
probably null |
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 |
|
R0356:Cog5
|
UTSW |
12 |
31,887,180 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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'- AGTATTATCACTTGTGTCCTGCGC -3'
(R):5'- AGATGCTGGTAAGTTATGCATTTGC -3'
Sequencing Primer
(F):5'- GCAGCCTGCTCCAGTTC -3'
(R):5'- AAATAAGCTGTCACTTTCGGCTGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation