Incidental Mutation 'IGL01396:Cog5'
| ID |
79433 |
| 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: 0.901)
|
| Stock # |
IGL01396
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
31704868-31987629 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31944095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 660
(D660G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036862]
|
| AlphaFold |
Q8C0L8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036862
AA Change: D660G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933
AA Change: D660G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219672
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,649 (GRCm39) |
Y469N |
probably benign |
Het |
| Actl11 |
T |
C |
9: 107,805,964 (GRCm39) |
S96P |
possibly damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,363,198 (GRCm39) |
|
probably null |
Het |
| Apobec4 |
T |
A |
1: 152,632,017 (GRCm39) |
I15K |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,090,401 (GRCm39) |
D1039E |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,498,769 (GRCm39) |
G175R |
probably damaging |
Het |
| AU040320 |
T |
A |
4: 126,763,171 (GRCm39) |
|
probably benign |
Het |
| Bcl9l |
G |
A |
9: 44,418,121 (GRCm39) |
R653H |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,958,669 (GRCm39) |
I144L |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 104,875,154 (GRCm39) |
T312I |
possibly damaging |
Het |
| Cdh23 |
C |
T |
10: 60,220,848 (GRCm39) |
V1297I |
possibly damaging |
Het |
| Cfap57 |
T |
C |
4: 118,467,792 (GRCm39) |
Y315C |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,442,044 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,196,945 (GRCm39) |
I332T |
probably damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,103,288 (GRCm39) |
T225A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,490 (GRCm39) |
L310P |
probably damaging |
Het |
| Dgki |
T |
C |
6: 36,977,025 (GRCm39) |
N695S |
probably damaging |
Het |
| Gas7 |
T |
A |
11: 67,543,740 (GRCm39) |
|
probably null |
Het |
| Gm21286 |
T |
C |
4: 60,794,323 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4799 |
C |
T |
10: 82,790,518 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac4 |
T |
C |
1: 91,887,196 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
T |
A |
12: 73,987,307 (GRCm39) |
S467T |
probably benign |
Het |
| Ier5 |
A |
G |
1: 154,974,296 (GRCm39) |
V294A |
probably damaging |
Het |
| Ifna11 |
T |
C |
4: 88,738,314 (GRCm39) |
V40A |
probably benign |
Het |
| Itga9 |
T |
C |
9: 118,436,191 (GRCm39) |
|
probably benign |
Het |
| Lbx1 |
G |
T |
19: 45,222,670 (GRCm39) |
Q118K |
probably benign |
Het |
| Lta |
A |
T |
17: 35,423,061 (GRCm39) |
|
probably null |
Het |
| Matr3 |
A |
G |
18: 35,721,442 (GRCm39) |
Y471C |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,178,905 (GRCm39) |
|
probably benign |
Het |
| Or4c103 |
C |
T |
2: 88,513,575 (GRCm39) |
C167Y |
probably damaging |
Het |
| Or4k51 |
T |
C |
2: 111,584,848 (GRCm39) |
F85L |
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,584,948 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5l13 |
G |
T |
2: 87,780,207 (GRCm39) |
F123L |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,901,247 (GRCm39) |
K299R |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,205,736 (GRCm39) |
E574G |
probably damaging |
Het |
| Phf3 |
G |
A |
1: 30,843,386 (GRCm39) |
Q1858* |
probably null |
Het |
| Prkca |
T |
C |
11: 107,905,148 (GRCm39) |
K197E |
possibly damaging |
Het |
| Psmc6 |
C |
A |
14: 45,581,124 (GRCm39) |
Q307K |
probably benign |
Het |
| Rasa1 |
T |
C |
13: 85,406,561 (GRCm39) |
I181V |
probably benign |
Het |
| Scel |
A |
G |
14: 103,845,530 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
T |
9: 119,363,770 (GRCm39) |
S457T |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,232,374 (GRCm39) |
T216A |
probably benign |
Het |
| Slc25a21 |
A |
G |
12: 57,205,974 (GRCm39) |
V19A |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 55,550,546 (GRCm39) |
T81A |
probably damaging |
Het |
| Slc35a5 |
A |
G |
16: 44,971,866 (GRCm39) |
Y117H |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,114,196 (GRCm39) |
V569A |
probably benign |
Het |
| Sqle |
A |
G |
15: 59,195,723 (GRCm39) |
Y333C |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,068,552 (GRCm39) |
E3078G |
possibly damaging |
Het |
| Tacc2 |
T |
A |
7: 130,360,919 (GRCm39) |
I2737N |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,346,620 (GRCm39) |
Y1272* |
probably null |
Het |
| Tnr |
G |
T |
1: 159,724,594 (GRCm39) |
R1095L |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,862 (GRCm39) |
S203P |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,477,301 (GRCm39) |
L370P |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,393,404 (GRCm39) |
H559R |
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 |
|
|
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 |
2013-11-05 |
Incidental Mutation