Incidental Mutation 'R2249:Cog6'
| ID |
240768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cog6
|
| Ensembl Gene |
ENSMUSG00000027742 |
| Gene Name |
component of oligomeric golgi complex 6 |
| Synonyms |
|
| MMRRC Submission |
040249-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2249 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
52889544-52924644 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 52907900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036665]
[ENSMUST00000193432]
[ENSMUST00000195183]
[ENSMUST00000195183]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 null
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 null
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 |
|
| Predicted Effect |
probably null
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
G |
A |
15: 101,100,975 (GRCm39) |
R379Q |
probably null |
Het |
| Adam23 |
C |
T |
1: 63,574,335 (GRCm39) |
Q276* |
probably null |
Het |
| Apob |
A |
T |
12: 8,057,499 (GRCm39) |
S1961C |
probably damaging |
Het |
| Atxn7l1 |
C |
T |
12: 33,408,839 (GRCm39) |
P334S |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,917,827 (GRCm39) |
M258V |
possibly damaging |
Het |
| Cd34 |
A |
C |
1: 194,630,260 (GRCm39) |
T65P |
possibly damaging |
Het |
| Cp |
T |
C |
3: 20,041,734 (GRCm39) |
M953T |
probably damaging |
Het |
| Cwc27 |
C |
T |
13: 104,768,130 (GRCm39) |
R455Q |
unknown |
Het |
| Dhx57 |
A |
T |
17: 80,588,663 (GRCm39) |
D63E |
probably damaging |
Het |
| Elapor1 |
A |
T |
3: 108,378,726 (GRCm39) |
Y409* |
probably null |
Het |
| Flt4 |
T |
A |
11: 49,536,786 (GRCm39) |
M1252K |
possibly damaging |
Het |
| Gfral |
C |
T |
9: 76,100,631 (GRCm39) |
C269Y |
probably damaging |
Het |
| Itih4 |
C |
T |
14: 30,621,351 (GRCm39) |
Q788* |
probably null |
Het |
| Kif18b |
A |
G |
11: 102,803,214 (GRCm39) |
S499P |
probably benign |
Het |
| Map1a |
G |
C |
2: 121,130,768 (GRCm39) |
R528P |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 20,003,443 (GRCm39) |
F1152L |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,748,599 (GRCm39) |
D160G |
probably benign |
Het |
| Mtcl2 |
A |
T |
2: 156,882,013 (GRCm39) |
C680S |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,847,469 (GRCm39) |
M616L |
probably benign |
Het |
| Ndst4 |
A |
T |
3: 125,231,823 (GRCm39) |
I131F |
probably benign |
Het |
| Neto1 |
G |
T |
18: 86,479,399 (GRCm39) |
A196S |
probably benign |
Het |
| Notum |
A |
G |
11: 120,545,237 (GRCm39) |
F441L |
probably benign |
Het |
| Nsmce4a |
A |
G |
7: 130,140,769 (GRCm39) |
I239T |
probably benign |
Het |
| Or51g1 |
A |
T |
7: 102,633,647 (GRCm39) |
N241K |
possibly damaging |
Het |
| Or52z14 |
T |
A |
7: 103,252,943 (GRCm39) |
D27E |
probably benign |
Het |
| Or5d35 |
A |
T |
2: 87,855,707 (GRCm39) |
I214F |
probably damaging |
Het |
| Or6s1 |
T |
A |
14: 51,307,870 (GRCm39) |
K327* |
probably null |
Het |
| Or6x1 |
A |
T |
9: 40,098,980 (GRCm39) |
T190S |
possibly damaging |
Het |
| Or8k40 |
A |
G |
2: 86,584,398 (GRCm39) |
M228T |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,700,841 (GRCm39) |
V221D |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,808,545 (GRCm39) |
Y474C |
probably damaging |
Het |
| Ptk6 |
A |
C |
2: 180,838,173 (GRCm39) |
H363Q |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,342,948 (GRCm39) |
W187R |
probably damaging |
Het |
| Rbfox3 |
A |
T |
11: 118,394,564 (GRCm39) |
F132L |
probably damaging |
Het |
| Rcl1 |
A |
T |
19: 29,099,268 (GRCm39) |
I188F |
possibly damaging |
Het |
| Scfd1 |
T |
A |
12: 51,462,299 (GRCm39) |
S385T |
possibly damaging |
Het |
| Sema6d |
A |
G |
2: 124,501,508 (GRCm39) |
E483G |
possibly damaging |
Het |
| Semp2l2b |
T |
C |
10: 21,943,015 (GRCm39) |
I322V |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,388,890 (GRCm39) |
V372A |
probably benign |
Het |
| Slc17a6 |
G |
A |
7: 51,317,654 (GRCm39) |
G429D |
probably damaging |
Het |
| Slc22a5 |
A |
G |
11: 53,774,532 (GRCm39) |
V151A |
possibly damaging |
Het |
| Spidr |
T |
C |
16: 15,936,787 (GRCm39) |
D106G |
probably damaging |
Het |
| Tekt3 |
A |
T |
11: 62,974,778 (GRCm39) |
T366S |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,710,398 (GRCm39) |
M281T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,782,485 (GRCm39) |
V917A |
probably damaging |
Het |
| Tubgcp4 |
A |
T |
2: 121,014,110 (GRCm39) |
D221V |
possibly damaging |
Het |
| Ubr4 |
C |
T |
4: 139,176,232 (GRCm39) |
R3153W |
probably damaging |
Het |
| Vmn1r89 |
A |
C |
7: 12,954,187 (GRCm39) |
T308P |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,326 (GRCm39) |
I27T |
probably benign |
Het |
| Vps13c |
T |
G |
9: 67,895,335 (GRCm39) |
|
probably null |
Het |
| Zfp142 |
A |
G |
1: 74,606,191 (GRCm39) |
V1793A |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,109 (GRCm39) |
C395S |
possibly 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 |
|
IGL01946:Cog6
|
APN |
3 |
52,909,825 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATGGCAAGTAGTTTAGCAG -3'
(R):5'- TGTAGACATGCCAGTCACCAAC -3'
Sequencing Primer
(F):5'- GTAGTTTAGCAGCAACAGCAAC -3'
(R):5'- GACATGGATCAAAAACTACAACTTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation