Incidental Mutation 'IGL03258:Cog1'
| ID |
414730 |
| 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 # |
IGL03258
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
113539995-113557880 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 113545919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 398
(W398*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018805]
[ENSMUST00000063776]
[ENSMUST00000148736]
[ENSMUST00000152653]
|
| AlphaFold |
Q9Z160 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000018805
AA Change: W398*
|
| SMART Domains |
Protein: ENSMUSP00000018805
Gene: ENSMUSG00000018661
AA Change: W398*
| 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 |
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: ENSMUST00000148736
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152653
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,931,210 (GRCm39) |
|
probably benign |
Het |
| Adam1b |
A |
G |
5: 121,639,447 (GRCm39) |
S533P |
possibly damaging |
Het |
| Akr1c6 |
G |
T |
13: 4,486,408 (GRCm39) |
G72C |
probably damaging |
Het |
| Carf |
C |
T |
1: 60,148,388 (GRCm39) |
T28I |
possibly damaging |
Het |
| Dmpk |
A |
G |
7: 18,826,131 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
C |
18: 50,053,960 (GRCm39) |
V2534A |
probably damaging |
Het |
| Fam78b |
A |
T |
1: 166,906,323 (GRCm39) |
T161S |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,969,215 (GRCm39) |
T1161S |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,599,095 (GRCm39) |
I122V |
probably benign |
Het |
| Ifi211 |
A |
T |
1: 173,733,098 (GRCm39) |
C188S |
probably benign |
Het |
| Lamc3 |
A |
C |
2: 31,777,695 (GRCm39) |
S114R |
probably damaging |
Het |
| Lrrc57 |
C |
T |
2: 120,435,703 (GRCm39) |
A239T |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,058,887 (GRCm39) |
Y707H |
probably damaging |
Het |
| Ms4a6b |
T |
G |
19: 11,499,072 (GRCm39) |
L62R |
probably damaging |
Het |
| Mtmr4 |
A |
T |
11: 87,502,829 (GRCm39) |
H961L |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,270,418 (GRCm39) |
N556S |
probably benign |
Het |
| Osgep |
T |
C |
14: 51,155,346 (GRCm39) |
T71A |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,371 (GRCm39) |
T887A |
probably benign |
Het |
| Pwwp2a |
T |
A |
11: 43,595,392 (GRCm39) |
F186I |
probably benign |
Het |
| Serpina1b |
G |
T |
12: 103,696,655 (GRCm39) |
S251R |
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,467,936 (GRCm39) |
|
probably null |
Het |
| Slc24a5 |
G |
T |
2: 124,922,625 (GRCm39) |
|
probably null |
Het |
| Slc25a17 |
A |
G |
15: 81,213,243 (GRCm39) |
|
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 75,986,386 (GRCm39) |
V98A |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,379,655 (GRCm39) |
I324N |
possibly damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,566,773 (GRCm39) |
L772P |
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 |
|
IGL02631:Cog1
|
APN |
11 |
113,547,304 (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 |
2016-08-02 |
Incidental Mutation