Incidental Mutation 'IGL02961:Cog8'
| ID |
365374 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cog8
|
| Ensembl Gene |
ENSMUSG00000031916 |
| Gene Name |
component of oligomeric golgi complex 8 |
| Synonyms |
C87832 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
IGL02961
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
107775341-107783369 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 107782885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034391]
[ENSMUST00000034392]
[ENSMUST00000095517]
[ENSMUST00000170962]
|
| AlphaFold |
Q9JJA2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034391
|
| SMART Domains |
Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Pfam:Dor1
|
56 |
394 |
7.6e-151 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034392
|
| SMART Domains |
Protein: ENSMUSP00000034392
Gene: ENSMUSG00000031917
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
95 |
170 |
4.36e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095517
|
| SMART Domains |
Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Pfam:Dor1
|
56 |
394 |
7.6e-151 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122903
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134772
AA Change: W82R
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170962
|
| SMART Domains |
Protein: ENSMUSP00000126153
Gene: ENSMUSG00000031917
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1T5Y|A
|
1 |
133 |
7e-87 |
PDB |
|
Blast:PUA
|
95 |
123 |
5e-13 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212281
|
| 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 protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(22) : Targeted, other(2) Gene trapped(20) |
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,671,731 (GRCm39) |
V2288A |
probably damaging |
Het |
| Agbl4 |
T |
A |
4: 110,437,318 (GRCm39) |
N76K |
probably damaging |
Het |
| AI182371 |
A |
T |
2: 34,976,124 (GRCm39) |
V258E |
possibly damaging |
Het |
| Alg1 |
T |
A |
16: 5,052,861 (GRCm39) |
N80K |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,741,793 (GRCm39) |
M963V |
possibly damaging |
Het |
| Avil |
C |
A |
10: 126,844,175 (GRCm39) |
Q245K |
probably benign |
Het |
| Caml |
A |
G |
13: 55,779,695 (GRCm39) |
N256S |
probably benign |
Het |
| Ccdc102a |
A |
C |
8: 95,629,978 (GRCm39) |
I521S |
possibly damaging |
Het |
| Ccm2l |
A |
G |
2: 152,920,521 (GRCm39) |
T393A |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,341,837 (GRCm39) |
V91A |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,751,542 (GRCm39) |
D13G |
probably damaging |
Het |
| Chsy1 |
T |
A |
7: 65,821,530 (GRCm39) |
D588E |
probably benign |
Het |
| Cilp |
T |
A |
9: 65,185,891 (GRCm39) |
V662E |
possibly damaging |
Het |
| Cpb2 |
T |
C |
14: 75,502,823 (GRCm39) |
V134A |
probably benign |
Het |
| Ctcfl |
T |
A |
2: 172,943,712 (GRCm39) |
H546L |
possibly damaging |
Het |
| Dclre1c |
A |
G |
2: 3,438,070 (GRCm39) |
D136G |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,409,240 (GRCm39) |
E379D |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,294,408 (GRCm39) |
Y808H |
possibly damaging |
Het |
| Gm7247 |
T |
A |
14: 51,602,812 (GRCm39) |
N49K |
probably damaging |
Het |
| Insr |
T |
C |
8: 3,308,785 (GRCm39) |
I84V |
probably benign |
Het |
| Ipo7 |
C |
T |
7: 109,646,223 (GRCm39) |
P541S |
probably benign |
Het |
| Kcnc3 |
T |
C |
7: 44,240,916 (GRCm39) |
S203P |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,122,402 (GRCm39) |
D1732G |
probably benign |
Het |
| Or10q3 |
T |
A |
19: 11,847,695 (GRCm39) |
N295I |
probably damaging |
Het |
| Or52d1 |
C |
A |
7: 103,756,357 (GRCm39) |
Y290* |
probably null |
Het |
| Or5p68 |
T |
C |
7: 107,945,334 (GRCm39) |
I285V |
probably benign |
Het |
| Or5w22 |
A |
G |
2: 87,363,028 (GRCm39) |
Y217C |
probably damaging |
Het |
| Or6x1 |
T |
C |
9: 40,098,897 (GRCm39) |
V162A |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,405,426 (GRCm39) |
L426* |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,797,089 (GRCm39) |
D8E |
possibly damaging |
Het |
| Polr3a |
A |
T |
14: 24,517,108 (GRCm39) |
Y714* |
probably null |
Het |
| Pramel16 |
T |
C |
4: 143,675,717 (GRCm39) |
T370A |
probably damaging |
Het |
| Prb1c |
A |
T |
6: 132,338,371 (GRCm39) |
F282L |
unknown |
Het |
| Rasgrf1 |
T |
C |
9: 89,863,702 (GRCm39) |
V556A |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,703,941 (GRCm39) |
Y1996H |
possibly damaging |
Het |
| Rttn |
T |
C |
18: 89,071,697 (GRCm39) |
L1248P |
probably damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,416,332 (GRCm39) |
L53P |
probably damaging |
Het |
| Slc22a27 |
T |
C |
19: 7,903,886 (GRCm39) |
R84G |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,097,392 (GRCm39) |
L1302P |
probably damaging |
Het |
| Srm |
T |
C |
4: 148,678,586 (GRCm39) |
V271A |
possibly damaging |
Het |
| Sycp2 |
A |
G |
2: 178,022,655 (GRCm39) |
I492T |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,256,301 (GRCm39) |
T472A |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,013,484 (GRCm39) |
D245G |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,967,075 (GRCm39) |
I274L |
probably benign |
Het |
| Vmn1r21 |
T |
C |
6: 57,820,974 (GRCm39) |
M157V |
probably benign |
Het |
| Wdr90 |
C |
A |
17: 26,067,649 (GRCm39) |
E1420* |
probably null |
Het |
| Zfp518a |
A |
T |
19: 40,903,462 (GRCm39) |
R1130S |
probably benign |
Het |
|
| Other mutations in Cog8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01721:Cog8
|
APN |
8 |
107,780,697 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01959:Cog8
|
APN |
8 |
107,783,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02563:Cog8
|
APN |
8 |
107,783,055 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0076:Cog8
|
UTSW |
8 |
107,780,765 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0255:Cog8
|
UTSW |
8 |
107,775,777 (GRCm39) |
unclassified |
probably benign |
|
|
R0433:Cog8
|
UTSW |
8 |
107,783,110 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0990:Cog8
|
UTSW |
8 |
107,779,119 (GRCm39) |
splice site |
probably null |
|
|
R1457:Cog8
|
UTSW |
8 |
107,779,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1567:Cog8
|
UTSW |
8 |
107,780,740 (GRCm39) |
nonsense |
probably null |
|
|
R2239:Cog8
|
UTSW |
8 |
107,782,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2380:Cog8
|
UTSW |
8 |
107,782,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2910:Cog8
|
UTSW |
8 |
107,780,853 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3978:Cog8
|
UTSW |
8 |
107,779,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4560:Cog8
|
UTSW |
8 |
107,778,843 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4863:Cog8
|
UTSW |
8 |
107,776,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4879:Cog8
|
UTSW |
8 |
107,782,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5026:Cog8
|
UTSW |
8 |
107,775,757 (GRCm39) |
missense |
probably benign |
|
|
R5721:Cog8
|
UTSW |
8 |
107,776,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6489:Cog8
|
UTSW |
8 |
107,776,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7146:Cog8
|
UTSW |
8 |
107,779,005 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7157:Cog8
|
UTSW |
8 |
107,779,131 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7229:Cog8
|
UTSW |
8 |
107,782,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7592:Cog8
|
UTSW |
8 |
107,776,861 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8237:Cog8
|
UTSW |
8 |
107,782,923 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8835:Cog8
|
UTSW |
8 |
107,773,920 (GRCm39) |
unclassified |
probably benign |
|
|
R8941:Cog8
|
UTSW |
8 |
107,783,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9075:Cog8
|
UTSW |
8 |
107,779,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Cog8
|
UTSW |
8 |
107,779,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9077:Cog8
|
UTSW |
8 |
107,779,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Cog8
|
UTSW |
8 |
107,779,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9672:Cog8
|
UTSW |
8 |
107,780,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0722:Cog8
|
UTSW |
8 |
107,775,625 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation