Incidental Mutation 'IGL01756:Cog4'
ID |
153454 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cog4
|
Ensembl Gene |
ENSMUSG00000031753 |
Gene Name |
component of oligomeric golgi complex 4 |
Synonyms |
D8Ertd515e |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.955)
|
Stock # |
IGL01756
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
111573232-111608859 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 111580391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 154
(K154*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034203]
[ENSMUST00000165867]
[ENSMUST00000172668]
[ENSMUST00000172897]
[ENSMUST00000174165]
[ENSMUST00000174398]
[ENSMUST00000174679]
[ENSMUST00000174723]
|
AlphaFold |
Q8R1U1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034203
AA Change: K208*
|
SMART Domains |
Protein: ENSMUSP00000034203 Gene: ENSMUSG00000031753 AA Change: K208*
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
coiled coil region
|
34 |
77 |
N/A |
INTRINSIC |
Blast:Cog4
|
81 |
178 |
1e-53 |
BLAST |
Cog4
|
188 |
498 |
1.81e-140 |
SMART |
Pfam:RINT1_TIP1
|
536 |
773 |
3.1e-11 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000165867
AA Change: K135*
|
SMART Domains |
Protein: ENSMUSP00000128518 Gene: ENSMUSG00000031753 AA Change: K135*
Domain | Start | End | E-Value | Type |
Blast:Cog4
|
8 |
105 |
6e-54 |
BLAST |
Cog4
|
115 |
425 |
1.81e-140 |
SMART |
PDB:3HR0|B
|
452 |
712 |
1e-174 |
PDB |
Blast:DIL
|
621 |
702 |
6e-38 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172668
|
SMART Domains |
Protein: ENSMUSP00000134252 Gene: ENSMUSG00000031753
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
coiled coil region
|
34 |
77 |
N/A |
INTRINSIC |
Blast:Cog4
|
81 |
117 |
1e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172897
|
SMART Domains |
Protein: ENSMUSP00000133583 Gene: ENSMUSG00000031753
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174165
|
SMART Domains |
Protein: ENSMUSP00000134306 Gene: ENSMUSG00000031753
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
coiled coil region
|
34 |
69 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174398
AA Change: K207*
|
SMART Domains |
Protein: ENSMUSP00000133297 Gene: ENSMUSG00000031753 AA Change: K207*
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
coiled coil region
|
33 |
76 |
N/A |
INTRINSIC |
Blast:Cog4
|
80 |
177 |
9e-54 |
BLAST |
Cog4
|
187 |
497 |
1.81e-140 |
SMART |
PDB:3HR0|B
|
524 |
763 |
1e-153 |
PDB |
Blast:DIL
|
672 |
753 |
7e-38 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174679
AA Change: K154*
|
SMART Domains |
Protein: ENSMUSP00000133458 Gene: ENSMUSG00000031753 AA Change: K154*
Domain | Start | End | E-Value | Type |
Blast:Cog4
|
27 |
174 |
5e-60 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174702
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174800
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174723
|
SMART Domains |
Protein: ENSMUSP00000133471 Gene: ENSMUSG00000031753
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
coiled coil region
|
34 |
77 |
N/A |
INTRINSIC |
|
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 a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]
|
Allele List at MGI |
All alleles(13) : Gene trapped(13) |
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atrnl1 |
A |
G |
19: 57,641,380 (GRCm39) |
N343D |
probably benign |
Het |
Birc6 |
T |
C |
17: 74,947,203 (GRCm39) |
V2974A |
probably benign |
Het |
Cngb3 |
A |
C |
4: 19,367,850 (GRCm39) |
D253A |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,706,884 (GRCm39) |
E2076D |
unknown |
Het |
Cox7a2 |
T |
G |
9: 79,665,837 (GRCm39) |
T15P |
probably benign |
Het |
Cyp4f39 |
T |
A |
17: 32,702,415 (GRCm39) |
L304* |
probably null |
Het |
Gucy2e |
A |
T |
11: 69,123,678 (GRCm39) |
L407Q |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,482,887 (GRCm39) |
I3146T |
probably benign |
Het |
Hipk4 |
T |
A |
7: 27,227,968 (GRCm39) |
L238* |
probably null |
Het |
Igf2r |
C |
T |
17: 12,902,709 (GRCm39) |
R2447Q |
probably benign |
Het |
Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
Klkb1 |
T |
A |
8: 45,725,361 (GRCm39) |
K526M |
probably damaging |
Het |
Ninl |
T |
C |
2: 150,821,436 (GRCm39) |
E66G |
probably damaging |
Het |
Pde8b |
A |
G |
13: 95,182,895 (GRCm39) |
S288P |
probably damaging |
Het |
Rigi |
A |
T |
4: 40,209,934 (GRCm39) |
N666K |
probably damaging |
Het |
Sar1a |
T |
A |
10: 61,522,235 (GRCm39) |
M109K |
probably benign |
Het |
Snx18 |
T |
A |
13: 113,754,052 (GRCm39) |
T294S |
probably benign |
Het |
Srek1 |
C |
T |
13: 103,897,090 (GRCm39) |
D84N |
probably damaging |
Het |
Trem1 |
G |
A |
17: 48,544,141 (GRCm39) |
W55* |
probably null |
Het |
Tsnaxip1 |
A |
T |
8: 106,569,420 (GRCm39) |
|
probably benign |
Het |
Vmn2r43 |
A |
G |
7: 8,258,583 (GRCm39) |
L210S |
probably benign |
Het |
|
Other mutations in Cog4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01462:Cog4
|
APN |
8 |
111,592,717 (GRCm39) |
missense |
probably benign |
0.44 |
IGL01631:Cog4
|
APN |
8 |
111,608,472 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02850:Cog4
|
APN |
8 |
111,593,221 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02932:Cog4
|
APN |
8 |
111,579,065 (GRCm39) |
missense |
probably benign |
0.16 |
IGL03232:Cog4
|
APN |
8 |
111,607,314 (GRCm39) |
splice site |
probably null |
|
Deminimis
|
UTSW |
8 |
111,608,112 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4362001:Cog4
|
UTSW |
8 |
111,593,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R0350:Cog4
|
UTSW |
8 |
111,580,328 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1368:Cog4
|
UTSW |
8 |
111,585,157 (GRCm39) |
unclassified |
probably benign |
|
R1531:Cog4
|
UTSW |
8 |
111,606,353 (GRCm39) |
missense |
probably benign |
0.30 |
R2110:Cog4
|
UTSW |
8 |
111,585,214 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2112:Cog4
|
UTSW |
8 |
111,585,214 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2867:Cog4
|
UTSW |
8 |
111,593,291 (GRCm39) |
intron |
probably benign |
|
R4239:Cog4
|
UTSW |
8 |
111,585,244 (GRCm39) |
missense |
probably damaging |
0.98 |
R4867:Cog4
|
UTSW |
8 |
111,593,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R4967:Cog4
|
UTSW |
8 |
111,578,915 (GRCm39) |
splice site |
probably null |
|
R5124:Cog4
|
UTSW |
8 |
111,573,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R5655:Cog4
|
UTSW |
8 |
111,589,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R6024:Cog4
|
UTSW |
8 |
111,608,112 (GRCm39) |
missense |
probably damaging |
0.98 |
R6347:Cog4
|
UTSW |
8 |
111,607,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R6475:Cog4
|
UTSW |
8 |
111,607,526 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6526:Cog4
|
UTSW |
8 |
111,608,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R6542:Cog4
|
UTSW |
8 |
111,577,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R6545:Cog4
|
UTSW |
8 |
111,607,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R7248:Cog4
|
UTSW |
8 |
111,608,834 (GRCm39) |
missense |
unknown |
|
R7292:Cog4
|
UTSW |
8 |
111,608,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R7356:Cog4
|
UTSW |
8 |
111,576,498 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7440:Cog4
|
UTSW |
8 |
111,606,338 (GRCm39) |
missense |
probably benign |
0.06 |
R7751:Cog4
|
UTSW |
8 |
111,607,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R8170:Cog4
|
UTSW |
8 |
111,592,663 (GRCm39) |
missense |
probably damaging |
0.98 |
R8181:Cog4
|
UTSW |
8 |
111,578,717 (GRCm39) |
splice site |
probably null |
|
R8834:Cog4
|
UTSW |
8 |
111,608,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R8837:Cog4
|
UTSW |
8 |
111,579,004 (GRCm39) |
missense |
probably benign |
0.45 |
R9155:Cog4
|
UTSW |
8 |
111,608,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R9469:Cog4
|
UTSW |
8 |
111,608,804 (GRCm39) |
missense |
unknown |
|
Z1177:Cog4
|
UTSW |
8 |
111,605,647 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2014-02-04 |