Incidental Mutation 'IGL02468:Cog5'
ID |
294644 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cog5
|
Ensembl Gene |
ENSMUSG00000035933 |
Gene Name |
component of oligomeric golgi complex 5 |
Synonyms |
GTC90, GOLTC1, 5430405C01Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.890)
|
Stock # |
IGL02468
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
31704868-31987629 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 31887357 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 null
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 |
|
Coding Region Coverage |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl2 |
A |
T |
3: 148,596,116 (GRCm39) |
D73E |
probably damaging |
Het |
Aspm |
A |
G |
1: 139,408,688 (GRCm39) |
Y2525C |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cep89 |
T |
G |
7: 35,102,577 (GRCm39) |
S97A |
probably benign |
Het |
Clec16a |
T |
A |
16: 10,559,742 (GRCm39) |
I1005N |
probably benign |
Het |
Crybg2 |
T |
C |
4: 133,809,898 (GRCm39) |
S1217P |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cytip |
A |
T |
2: 58,024,025 (GRCm39) |
M265K |
probably benign |
Het |
Ddx60 |
T |
G |
8: 62,411,676 (GRCm39) |
S509R |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,037,195 (GRCm39) |
S3616P |
probably benign |
Het |
Galnt9 |
T |
C |
5: 110,762,089 (GRCm39) |
F409S |
possibly damaging |
Het |
Hrh2 |
T |
C |
13: 54,368,828 (GRCm39) |
V268A |
probably benign |
Het |
Ifi47 |
T |
A |
11: 48,986,810 (GRCm39) |
S192R |
probably damaging |
Het |
Igdcc4 |
T |
C |
9: 65,034,114 (GRCm39) |
Y596H |
probably damaging |
Het |
Lamb2 |
T |
C |
9: 108,364,348 (GRCm39) |
C1096R |
probably damaging |
Het |
Marchf1 |
A |
G |
8: 66,871,563 (GRCm39) |
Q109R |
probably damaging |
Het |
Or2y1d |
A |
T |
11: 49,321,941 (GRCm39) |
I213F |
probably damaging |
Het |
Or7d9 |
T |
C |
9: 20,197,574 (GRCm39) |
L201P |
probably damaging |
Het |
Or7g32 |
G |
T |
9: 19,408,473 (GRCm39) |
C143F |
probably benign |
Het |
Patl1 |
T |
A |
19: 11,909,574 (GRCm39) |
V500D |
probably damaging |
Het |
Pbx3 |
A |
T |
2: 34,114,589 (GRCm39) |
L57H |
probably damaging |
Het |
Pcdhb1 |
T |
C |
18: 37,399,231 (GRCm39) |
V394A |
probably benign |
Het |
Pogz |
A |
G |
3: 94,786,394 (GRCm39) |
N994S |
probably damaging |
Het |
Prom1 |
T |
A |
5: 44,187,040 (GRCm39) |
M406L |
probably benign |
Het |
Psg26 |
T |
C |
7: 18,212,387 (GRCm39) |
S323G |
probably damaging |
Het |
Ptprm |
T |
C |
17: 67,121,504 (GRCm39) |
T854A |
probably benign |
Het |
Puf60 |
A |
C |
15: 75,947,685 (GRCm39) |
|
probably benign |
Het |
Six2 |
C |
T |
17: 85,992,931 (GRCm39) |
E191K |
possibly damaging |
Het |
Tbc1d17 |
A |
G |
7: 44,497,753 (GRCm39) |
F40L |
probably benign |
Het |
Tektip1 |
G |
T |
10: 81,201,563 (GRCm39) |
L20I |
possibly damaging |
Het |
Thsd7a |
A |
G |
6: 12,318,170 (GRCm39) |
V1600A |
probably damaging |
Het |
Tm4sf19 |
C |
A |
16: 32,226,533 (GRCm39) |
|
probably benign |
Het |
Tnfrsf1a |
A |
G |
6: 125,334,824 (GRCm39) |
T33A |
probably benign |
Het |
Troap |
A |
T |
15: 98,973,242 (GRCm39) |
T3S |
possibly damaging |
Het |
Wdfy4 |
T |
A |
14: 32,688,389 (GRCm39) |
I3074L |
probably benign |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |