Incidental Mutation 'IGL01946:Cog6'
| ID |
180973 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cog6
|
| Ensembl Gene |
ENSMUSG00000027742 |
| Gene Name |
component of oligomeric golgi complex 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01946
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
52889544-52924644 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 52909825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036665]
[ENSMUST00000193432]
[ENSMUST00000195183]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036665
|
| SMART Domains |
Protein: ENSMUSP00000048603
Gene: ENSMUSG00000027742
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
|
COG6
|
55 |
656 |
N/A |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192788
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193432
|
| SMART Domains |
Protein: ENSMUSP00000141339
Gene: ENSMUSG00000027742
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
|
COG6
|
55 |
625 |
5e-289 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195183
|
| SMART Domains |
Protein: ENSMUSP00000141733
Gene: ENSMUSG00000027742
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
|
Pfam:COG6
|
39 |
174 |
5.5e-32 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,547,442 (GRCm39) |
E343K |
possibly damaging |
Het |
| Abcc9 |
T |
C |
6: 142,571,763 (GRCm39) |
I1087V |
probably benign |
Het |
| Bcam |
A |
C |
7: 19,494,042 (GRCm39) |
Y416* |
probably null |
Het |
| Bhlhe22 |
T |
A |
3: 18,109,960 (GRCm39) |
C337S |
probably damaging |
Het |
| Cerkl |
T |
C |
2: 79,223,364 (GRCm39) |
D119G |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,408,312 (GRCm39) |
D1840G |
probably damaging |
Het |
| Dhx16 |
G |
T |
17: 36,196,396 (GRCm39) |
M521I |
probably benign |
Het |
| Dnaja2 |
A |
G |
8: 86,273,329 (GRCm39) |
I196T |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,811,369 (GRCm39) |
Y165H |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm3371 |
A |
G |
14: 44,646,178 (GRCm39) |
Y96H |
probably damaging |
Het |
| H2-T10 |
G |
A |
17: 36,431,608 (GRCm39) |
A82V |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,217,350 (GRCm39) |
T1413A |
possibly damaging |
Het |
| Krt23 |
T |
A |
11: 99,383,665 (GRCm39) |
M76L |
possibly damaging |
Het |
| Lipe |
A |
T |
7: 25,082,701 (GRCm39) |
M504K |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,503,759 (GRCm39) |
R560S |
probably benign |
Het |
| Lta4h |
T |
A |
10: 93,307,232 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,877,522 (GRCm39) |
T348A |
probably damaging |
Het |
| Mybpc2 |
C |
A |
7: 44,159,322 (GRCm39) |
|
probably benign |
Het |
| Or51r1 |
T |
C |
7: 102,227,734 (GRCm39) |
|
probably null |
Het |
| Or52r1b |
T |
A |
7: 102,691,357 (GRCm39) |
S219T |
probably damaging |
Het |
| Pdp2 |
G |
A |
8: 105,320,824 (GRCm39) |
M224I |
probably benign |
Het |
| Pimreg |
C |
T |
11: 71,935,804 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
A |
T |
3: 28,178,766 (GRCm39) |
S887C |
probably damaging |
Het |
| Ppp1r3g |
G |
A |
13: 36,152,978 (GRCm39) |
A133T |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,390,818 (GRCm39) |
G1323D |
probably damaging |
Het |
| Rab3ip |
A |
G |
10: 116,773,300 (GRCm39) |
|
probably null |
Het |
| Rpain |
A |
G |
11: 70,861,358 (GRCm39) |
H9R |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,110,490 (GRCm39) |
|
probably benign |
Het |
| Serpinb6d |
A |
G |
13: 33,855,369 (GRCm39) |
T348A |
probably benign |
Het |
| Smad3 |
A |
G |
9: 63,664,835 (GRCm39) |
L42P |
probably damaging |
Het |
| Smr3a |
C |
T |
5: 88,156,014 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r13 |
G |
A |
5: 109,322,085 (GRCm39) |
T204I |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,660,561 (GRCm39) |
N1272D |
probably damaging |
Het |
|
| Other mutations in Cog6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01922:Cog6
|
APN |
3 |
52,893,846 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02122:Cog6
|
APN |
3 |
52,905,763 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02589:Cog6
|
APN |
3 |
52,914,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02819:Cog6
|
APN |
3 |
52,916,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0045:Cog6
|
UTSW |
3 |
52,900,171 (GRCm39) |
splice site |
probably null |
|
|
R0045:Cog6
|
UTSW |
3 |
52,900,171 (GRCm39) |
splice site |
probably null |
|
|
R0086:Cog6
|
UTSW |
3 |
52,900,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0545:Cog6
|
UTSW |
3 |
52,903,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0707:Cog6
|
UTSW |
3 |
52,921,283 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0718:Cog6
|
UTSW |
3 |
52,918,050 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1169:Cog6
|
UTSW |
3 |
52,921,265 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1451:Cog6
|
UTSW |
3 |
52,916,534 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1891:Cog6
|
UTSW |
3 |
52,890,601 (GRCm39) |
missense |
probably benign |
|
|
R2249:Cog6
|
UTSW |
3 |
52,907,900 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2264:Cog6
|
UTSW |
3 |
52,900,332 (GRCm39) |
nonsense |
probably null |
|
|
R3745:Cog6
|
UTSW |
3 |
52,900,240 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4027:Cog6
|
UTSW |
3 |
52,909,950 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4230:Cog6
|
UTSW |
3 |
52,900,229 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4400:Cog6
|
UTSW |
3 |
52,920,362 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4551:Cog6
|
UTSW |
3 |
52,905,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Cog6
|
UTSW |
3 |
52,918,019 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5326:Cog6
|
UTSW |
3 |
52,921,237 (GRCm39) |
missense |
probably null |
0.12 |
|
R6169:Cog6
|
UTSW |
3 |
52,914,722 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6273:Cog6
|
UTSW |
3 |
52,903,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7169:Cog6
|
UTSW |
3 |
52,897,387 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7199:Cog6
|
UTSW |
3 |
52,890,610 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7243:Cog6
|
UTSW |
3 |
52,909,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7299:Cog6
|
UTSW |
3 |
52,909,928 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8254:Cog6
|
UTSW |
3 |
52,900,938 (GRCm39) |
missense |
probably benign |
|
|
R8687:Cog6
|
UTSW |
3 |
52,892,338 (GRCm39) |
missense |
probably benign |
|
|
R8759:Cog6
|
UTSW |
3 |
52,897,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Cog6
|
UTSW |
3 |
52,890,535 (GRCm39) |
missense |
probably benign |
|
|
R9539:Cog6
|
UTSW |
3 |
52,914,722 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9688:Cog6
|
UTSW |
3 |
52,916,528 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9729:Cog6
|
UTSW |
3 |
52,900,907 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Cog6
|
UTSW |
3 |
52,921,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation