Incidental Mutation 'R0076:Cog8'
| ID |
16943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cog8
|
| Ensembl Gene |
ENSMUSG00000031916 |
| Gene Name |
component of oligomeric golgi complex 8 |
| Synonyms |
C87832 |
| MMRRC Submission |
038363-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R0076 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
107775341-107783369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107780765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 164
(I164M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034391]
[ENSMUST00000034392]
[ENSMUST00000095517]
[ENSMUST00000170962]
|
| AlphaFold |
Q9JJA2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034391
AA Change: I164M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916
AA Change: I164M
| 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 |
possibly damaging
Transcript: ENSMUST00000095517
AA Change: I164M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916
AA Change: I164M
| 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 |
probably benign
Transcript: ENSMUST00000134772
|
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 89.9%
- 3x: 87.5%
- 10x: 81.6%
- 20x: 72.8%
|
| Validation Efficiency |
92% (83/90) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
G |
7: 119,972,908 (GRCm39) |
|
probably benign |
Het |
| Acp3 |
A |
G |
9: 104,201,417 (GRCm39) |
|
probably benign |
Het |
| Ada |
T |
A |
2: 163,569,523 (GRCm39) |
|
probably benign |
Het |
| Ankrd17 |
T |
A |
5: 90,392,265 (GRCm39) |
K1693* |
probably null |
Het |
| Arhgef38 |
T |
A |
3: 132,866,507 (GRCm39) |
H210L |
possibly damaging |
Het |
| Car10 |
G |
A |
11: 93,381,423 (GRCm39) |
E129K |
possibly damaging |
Het |
| Cask |
A |
G |
X: 13,544,513 (GRCm39) |
|
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,010,034 (GRCm39) |
D406G |
probably damaging |
Het |
| Cd93 |
T |
C |
2: 148,284,056 (GRCm39) |
D430G |
probably benign |
Het |
| Cds1 |
T |
C |
5: 101,965,706 (GRCm39) |
|
probably benign |
Het |
| Cerkl |
A |
T |
2: 79,173,633 (GRCm39) |
S259T |
possibly damaging |
Het |
| Cfap91 |
G |
A |
16: 38,123,046 (GRCm39) |
Q661* |
probably null |
Het |
| Col4a1 |
G |
A |
8: 11,268,713 (GRCm39) |
P1009L |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,276,578 (GRCm39) |
|
probably null |
Het |
| Dcc |
G |
A |
18: 71,454,117 (GRCm39) |
Q1241* |
probably null |
Het |
| Dock3 |
A |
C |
9: 106,788,685 (GRCm39) |
|
probably benign |
Het |
| Dus1l |
A |
T |
11: 120,683,634 (GRCm39) |
|
probably benign |
Het |
| Dvl2 |
G |
A |
11: 69,898,926 (GRCm39) |
E438K |
probably damaging |
Het |
| Eif3g |
A |
G |
9: 20,809,049 (GRCm39) |
F85S |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,204,224 (GRCm39) |
M456V |
probably benign |
Het |
| Fbxo47 |
G |
A |
11: 97,748,481 (GRCm39) |
|
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,802,661 (GRCm39) |
T188A |
possibly damaging |
Het |
| Gm11437 |
T |
C |
11: 84,039,462 (GRCm39) |
T288A |
possibly damaging |
Het |
| Gm5546 |
T |
A |
3: 104,260,448 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfb |
C |
A |
14: 47,054,912 (GRCm39) |
A11S |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,680,721 (GRCm39) |
|
probably benign |
Het |
| Ifitm6 |
T |
A |
7: 140,595,920 (GRCm39) |
R124S |
possibly damaging |
Het |
| Il17rd |
T |
A |
14: 26,816,811 (GRCm39) |
L172Q |
probably damaging |
Het |
| Il4 |
A |
T |
11: 53,504,741 (GRCm39) |
L13Q |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,466,735 (GRCm39) |
M516T |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,741,356 (GRCm39) |
|
probably benign |
Het |
| Mark1-ps1 |
T |
A |
17: 54,254,905 (GRCm39) |
|
noncoding transcript |
Het |
| Mndal |
G |
T |
1: 173,702,013 (GRCm39) |
C96* |
probably null |
Het |
| Mroh1 |
T |
C |
15: 76,335,340 (GRCm39) |
S1365P |
probably benign |
Het |
| Mrpl12 |
A |
G |
11: 120,376,268 (GRCm39) |
|
probably benign |
Het |
| Mthfsd |
C |
A |
8: 121,825,478 (GRCm39) |
V270F |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,374,337 (GRCm39) |
V555D |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,611,412 (GRCm39) |
V124A |
probably damaging |
Het |
| Pla2g10 |
T |
A |
16: 13,533,382 (GRCm39) |
Y131F |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,075,614 (GRCm39) |
|
probably benign |
Het |
| Polr2b |
T |
A |
5: 77,474,408 (GRCm39) |
V415E |
possibly damaging |
Het |
| Pou6f1 |
G |
A |
15: 100,485,717 (GRCm39) |
Q106* |
probably null |
Het |
| Ptprd |
T |
C |
4: 75,865,276 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
G |
A |
4: 11,609,480 (GRCm39) |
|
probably benign |
Het |
| Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
| Scn7a |
A |
G |
2: 66,544,381 (GRCm39) |
V370A |
probably benign |
Het |
| Sec1 |
A |
G |
7: 45,328,315 (GRCm39) |
V244A |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,115,212 (GRCm39) |
|
probably benign |
Het |
| Slco2b1 |
A |
T |
7: 99,334,708 (GRCm39) |
Y254* |
probably null |
Het |
| Steap3 |
G |
A |
1: 120,155,460 (GRCm39) |
R500C |
probably damaging |
Het |
| Stk10 |
A |
G |
11: 32,553,722 (GRCm39) |
T580A |
probably benign |
Het |
| Tpo |
C |
T |
12: 30,154,022 (GRCm39) |
G228R |
probably damaging |
Het |
| Tpx2 |
T |
C |
2: 152,735,603 (GRCm39) |
F744L |
probably damaging |
Het |
| Ube3b |
G |
T |
5: 114,546,278 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
A |
G |
10: 130,230,062 (GRCm39) |
S17P |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,891,264 (GRCm39) |
|
probably benign |
Het |
| Zfp532 |
T |
A |
18: 65,818,698 (GRCm39) |
S851R |
probably benign |
Het |
| Zfp623 |
G |
A |
15: 75,819,058 (GRCm39) |
E5K |
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 |
|
IGL02961:Cog8
|
APN |
8 |
107,782,885 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2013-01-20 |
Incidental Mutation