Incidental Mutation 'IGL02631:Cog1'
| ID |
301311 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cog1
|
| Ensembl Gene |
ENSMUSG00000018661 |
| Gene Name |
component of oligomeric golgi complex 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.853)
|
| Stock # |
IGL02631
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
113539995-113557880 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 113547304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 633
(Q633*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018805]
[ENSMUST00000063776]
[ENSMUST00000120194]
[ENSMUST00000152653]
[ENSMUST00000148736]
|
| AlphaFold |
Q9Z160 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000018805
AA Change: Q633*
|
| SMART Domains |
Protein: ENSMUSP00000018805
Gene: ENSMUSG00000018661
AA Change: Q633*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps51
|
12 |
93 |
1.5e-17 |
PFAM |
|
low complexity region
|
95 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
530 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063776
|
| SMART Domains |
Protein: ENSMUSP00000068394
Gene: ENSMUSG00000018661
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps51
|
12 |
93 |
4.7e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120194
|
| SMART Domains |
Protein: ENSMUSP00000113652
Gene: ENSMUSG00000041629
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
71 |
N/A |
INTRINSIC |
|
Pfam:FAM104
|
75 |
185 |
3.1e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123085
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134418
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137878
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142069
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152653
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148736
|
| 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. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b2 |
A |
G |
6: 113,725,506 (GRCm39) |
S1242P |
probably damaging |
Het |
| Bglap |
A |
T |
3: 88,290,987 (GRCm39) |
Y81* |
probably null |
Het |
| Ccdc83 |
T |
C |
7: 89,893,277 (GRCm39) |
D160G |
possibly damaging |
Het |
| Cep97 |
A |
T |
16: 55,742,541 (GRCm39) |
C135* |
probably null |
Het |
| Cyp4f40 |
A |
T |
17: 32,894,609 (GRCm39) |
|
probably benign |
Het |
| Dennd2c |
T |
A |
3: 103,063,387 (GRCm39) |
M608K |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,517,859 (GRCm39) |
S855P |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,160,095 (GRCm39) |
I1457T |
probably damaging |
Het |
| Fam149b |
G |
A |
14: 20,425,614 (GRCm39) |
V300M |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,784,723 (GRCm39) |
L261Q |
probably damaging |
Het |
| Flt1 |
G |
T |
5: 147,610,384 (GRCm39) |
S413* |
probably null |
Het |
| Flt3 |
T |
G |
5: 147,281,362 (GRCm39) |
D790A |
probably damaging |
Het |
| Gpat2 |
A |
G |
2: 127,276,152 (GRCm39) |
|
probably benign |
Het |
| Gpr151 |
T |
C |
18: 42,711,835 (GRCm39) |
K281R |
probably benign |
Het |
| Hoxa5 |
G |
A |
6: 52,180,790 (GRCm39) |
R181C |
probably damaging |
Het |
| Irx4 |
C |
T |
13: 73,416,596 (GRCm39) |
R331W |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,432 (GRCm39) |
I155T |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,459,276 (GRCm39) |
R1944C |
probably damaging |
Het |
| Obp2b |
A |
G |
2: 25,629,255 (GRCm39) |
N141S |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,599 (GRCm39) |
V143E |
possibly damaging |
Het |
| Or4c3d |
T |
A |
2: 89,881,786 (GRCm39) |
N294I |
probably damaging |
Het |
| Papss2 |
T |
A |
19: 32,611,404 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,990,533 (GRCm39) |
M915K |
possibly damaging |
Het |
| Raver2 |
A |
C |
4: 100,953,499 (GRCm39) |
D89A |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Setd2 |
A |
G |
9: 110,379,644 (GRCm39) |
D1153G |
possibly damaging |
Het |
| Slc25a12 |
C |
T |
2: 71,127,086 (GRCm39) |
G365E |
possibly damaging |
Het |
| Slc35e4 |
A |
C |
11: 3,857,729 (GRCm39) |
V292G |
probably damaging |
Het |
| Slc36a4 |
T |
C |
9: 15,638,237 (GRCm39) |
V221A |
probably damaging |
Het |
| Slc7a14 |
C |
A |
3: 31,292,827 (GRCm39) |
A153S |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 84,991,204 (GRCm39) |
D658G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tab3 |
A |
G |
X: 84,658,139 (GRCm39) |
N222S |
probably benign |
Het |
| Tdrd6 |
T |
A |
17: 43,937,110 (GRCm39) |
T1313S |
probably damaging |
Het |
| Tnfrsf1b |
A |
T |
4: 144,951,398 (GRCm39) |
C181S |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,239,972 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
T |
1: 84,743,729 (GRCm39) |
V526E |
possibly damaging |
Het |
| Trps1 |
T |
C |
15: 50,709,417 (GRCm39) |
D311G |
probably damaging |
Het |
| Ttf1 |
A |
G |
2: 28,959,912 (GRCm39) |
I507V |
probably damaging |
Het |
| Unc80 |
A |
C |
1: 66,569,222 (GRCm39) |
D959A |
probably damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,992,026 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
G |
10: 12,585,807 (GRCm39) |
F990S |
probably benign |
Het |
| V1rd19 |
T |
C |
7: 23,702,825 (GRCm39) |
L97P |
probably damaging |
Het |
|
| Other mutations in Cog1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02407:Cog1
|
APN |
11 |
113,544,852 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03258:Cog1
|
APN |
11 |
113,545,919 (GRCm39) |
nonsense |
probably null |
|
|
R0243:Cog1
|
UTSW |
11 |
113,547,821 (GRCm39) |
unclassified |
probably benign |
|
|
R0336:Cog1
|
UTSW |
11 |
113,553,076 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1061:Cog1
|
UTSW |
11 |
113,542,863 (GRCm39) |
missense |
probably benign |
|
|
R1539:Cog1
|
UTSW |
11 |
113,543,058 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1757:Cog1
|
UTSW |
11 |
113,543,130 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1782:Cog1
|
UTSW |
11 |
113,544,792 (GRCm39) |
missense |
probably benign |
|
|
R1924:Cog1
|
UTSW |
11 |
113,547,038 (GRCm39) |
missense |
probably benign |
|
|
R2120:Cog1
|
UTSW |
11 |
113,540,424 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2121:Cog1
|
UTSW |
11 |
113,540,424 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2137:Cog1
|
UTSW |
11 |
113,550,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3809:Cog1
|
UTSW |
11 |
113,545,836 (GRCm39) |
missense |
probably benign |
|
|
R4042:Cog1
|
UTSW |
11 |
113,551,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4287:Cog1
|
UTSW |
11 |
113,544,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4679:Cog1
|
UTSW |
11 |
113,543,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Cog1
|
UTSW |
11 |
113,547,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Cog1
|
UTSW |
11 |
113,548,253 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6575:Cog1
|
UTSW |
11 |
113,546,887 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7026:Cog1
|
UTSW |
11 |
113,540,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7233:Cog1
|
UTSW |
11 |
113,540,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8013:Cog1
|
UTSW |
11 |
113,546,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8014:Cog1
|
UTSW |
11 |
113,546,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8027:Cog1
|
UTSW |
11 |
113,543,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Cog1
|
UTSW |
11 |
113,549,324 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9071:Cog1
|
UTSW |
11 |
113,546,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9110:Cog1
|
UTSW |
11 |
113,544,807 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9255:Cog1
|
UTSW |
11 |
113,547,019 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Cog1
|
UTSW |
11 |
113,542,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation