Incidental Mutation 'IGL01288:Cog5'
ID |
72803 |
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 # |
IGL01288
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
31704868-31987629 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 31936205 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 584
(T584I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036862]
|
AlphaFold |
Q8C0L8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036862
AA Change: T584I
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000044797 Gene: ENSMUSG00000035933 AA Change: T584I
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
G |
T |
8: 123,507,381 (GRCm39) |
|
probably benign |
Het |
Acsl3 |
G |
T |
1: 78,677,476 (GRCm39) |
W490L |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,979,858 (GRCm39) |
I381V |
possibly damaging |
Het |
Aox1 |
A |
G |
1: 58,333,566 (GRCm39) |
Y261C |
probably damaging |
Het |
Ap3m2 |
T |
C |
8: 23,293,931 (GRCm39) |
T40A |
probably benign |
Het |
Arfgef1 |
C |
T |
1: 10,283,436 (GRCm39) |
A158T |
possibly damaging |
Het |
Atp1a4 |
T |
C |
1: 172,085,474 (GRCm39) |
E43G |
possibly damaging |
Het |
Cpa1 |
G |
A |
6: 30,640,582 (GRCm39) |
V75M |
probably damaging |
Het |
Cul7 |
A |
G |
17: 46,968,733 (GRCm39) |
|
probably benign |
Het |
Dennd2b |
A |
G |
7: 109,139,029 (GRCm39) |
I668T |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,536,181 (GRCm39) |
I93T |
possibly damaging |
Het |
Dyrk2 |
T |
C |
10: 118,696,604 (GRCm39) |
Y218C |
probably damaging |
Het |
Efr3b |
T |
C |
12: 4,032,865 (GRCm39) |
Y164C |
probably damaging |
Het |
Etos1 |
C |
A |
7: 130,373,935 (GRCm39) |
|
probably benign |
Het |
Fam13a |
A |
G |
6: 58,933,712 (GRCm39) |
Y293H |
probably damaging |
Het |
Gde1 |
A |
T |
7: 118,290,863 (GRCm39) |
V154D |
possibly damaging |
Het |
Glyat |
A |
G |
19: 12,627,719 (GRCm39) |
T105A |
possibly damaging |
Het |
Il36b |
A |
T |
2: 24,049,925 (GRCm39) |
I179L |
probably benign |
Het |
Kif21b |
C |
T |
1: 136,099,922 (GRCm39) |
T1492M |
probably benign |
Het |
Kmt2d |
G |
T |
15: 98,762,925 (GRCm39) |
P282T |
probably damaging |
Het |
Lgi4 |
A |
G |
7: 30,768,468 (GRCm39) |
E489G |
probably benign |
Het |
Lipn |
A |
C |
19: 34,056,435 (GRCm39) |
E260D |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,730,864 (GRCm39) |
D2911G |
probably benign |
Het |
Nab2 |
C |
T |
10: 127,500,978 (GRCm39) |
R38Q |
probably damaging |
Het |
Or1e35 |
A |
T |
11: 73,798,139 (GRCm39) |
Y60N |
probably damaging |
Het |
Or4c1 |
A |
T |
2: 89,133,816 (GRCm39) |
V40E |
possibly damaging |
Het |
Or4p22 |
T |
A |
2: 88,317,592 (GRCm39) |
I172K |
probably damaging |
Het |
Or52i2 |
A |
G |
7: 102,319,858 (GRCm39) |
T244A |
probably damaging |
Het |
Or5t16 |
C |
A |
2: 86,818,598 (GRCm39) |
M307I |
probably benign |
Het |
Or6f2 |
T |
C |
7: 139,756,528 (GRCm39) |
L165P |
probably damaging |
Het |
Osbpl6 |
T |
C |
2: 76,395,167 (GRCm39) |
S337P |
probably damaging |
Het |
Phf8 |
T |
C |
X: 150,330,921 (GRCm39) |
|
probably null |
Het |
Pik3c2b |
C |
T |
1: 133,022,543 (GRCm39) |
H1162Y |
probably damaging |
Het |
Plek2 |
T |
C |
12: 78,941,727 (GRCm39) |
D134G |
possibly damaging |
Het |
Rnf139 |
G |
A |
15: 58,771,028 (GRCm39) |
R351H |
probably damaging |
Het |
Shld2 |
A |
T |
14: 33,981,600 (GRCm39) |
Y513N |
probably benign |
Het |
Skint5 |
T |
C |
4: 113,381,332 (GRCm39) |
|
probably benign |
Het |
Slc12a9 |
C |
T |
5: 137,329,200 (GRCm39) |
|
probably null |
Het |
Stradb |
C |
A |
1: 59,031,460 (GRCm39) |
H216N |
possibly damaging |
Het |
Tex15 |
C |
T |
8: 34,061,412 (GRCm39) |
H281Y |
probably benign |
Het |
Tg |
G |
T |
15: 66,608,125 (GRCm39) |
V237L |
possibly damaging |
Het |
Tns1 |
T |
A |
1: 73,992,969 (GRCm39) |
T570S |
probably damaging |
Het |
Tpm1 |
C |
T |
9: 66,943,337 (GRCm39) |
R105H |
probably damaging |
Het |
Wdfy3 |
G |
T |
5: 102,049,857 (GRCm39) |
|
probably null |
Het |
Zc3h12c |
A |
G |
9: 52,028,951 (GRCm39) |
|
probably benign |
Het |
Zmynd8 |
T |
A |
2: 165,654,734 (GRCm39) |
S584C |
probably damaging |
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 |
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 |
|
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 |
2013-10-07 |