Incidental Mutation 'IGL02563:Cog8'
| ID |
298761 |
| 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 # |
IGL02563
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
107775341-107783369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 107783055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 78
(R78Q)
|
| 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: R78Q
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916
AA Change: R78Q
| 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: R78Q
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916
AA Change: R78Q
| 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: R25Q
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
A |
T |
2: 35,270,410 (GRCm39) |
V97E |
probably damaging |
Het |
| Abhd16a |
C |
T |
17: 35,320,221 (GRCm39) |
T362M |
probably damaging |
Het |
| Adam23 |
T |
G |
1: 63,607,136 (GRCm39) |
|
probably benign |
Het |
| Apeh |
C |
A |
9: 107,970,908 (GRCm39) |
R87L |
possibly damaging |
Het |
| Arid3a |
T |
A |
10: 79,786,717 (GRCm39) |
M490K |
probably damaging |
Het |
| Atp6v1b1 |
T |
A |
6: 83,732,433 (GRCm39) |
V251D |
probably benign |
Het |
| Cyld |
T |
C |
8: 89,462,522 (GRCm39) |
I701T |
probably damaging |
Het |
| Dmgdh |
A |
G |
13: 93,811,047 (GRCm39) |
|
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,205,931 (GRCm39) |
|
probably null |
Het |
| Dop1b |
T |
A |
16: 93,574,293 (GRCm39) |
V2D |
probably damaging |
Het |
| Dusp22 |
A |
T |
13: 30,889,628 (GRCm39) |
S70C |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,035,700 (GRCm39) |
Q3415R |
possibly damaging |
Het |
| Dysf |
T |
C |
6: 84,163,498 (GRCm39) |
|
probably benign |
Het |
| Fam114a1 |
G |
A |
5: 65,163,491 (GRCm39) |
|
probably null |
Het |
| Fam20a |
T |
A |
11: 109,568,620 (GRCm39) |
Q302L |
possibly damaging |
Het |
| Fancm |
T |
A |
12: 65,139,236 (GRCm39) |
L374H |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,857,317 (GRCm39) |
E2222K |
probably benign |
Het |
| Fgf17 |
G |
A |
14: 70,874,178 (GRCm39) |
Q204* |
probably null |
Het |
| Gap43 |
T |
C |
16: 42,112,495 (GRCm39) |
T89A |
probably benign |
Het |
| Gm5069 |
A |
G |
1: 180,155,464 (GRCm39) |
|
probably benign |
Het |
| Gm9913 |
C |
T |
2: 125,348,254 (GRCm39) |
|
probably benign |
Het |
| Gpr174 |
T |
C |
X: 106,336,854 (GRCm39) |
L222P |
probably benign |
Het |
| Grid2 |
A |
T |
6: 64,322,857 (GRCm39) |
Q619L |
possibly damaging |
Het |
| Hoxc13 |
A |
G |
15: 102,830,233 (GRCm39) |
D204G |
possibly damaging |
Het |
| Itgav |
T |
C |
2: 83,601,580 (GRCm39) |
V317A |
probably benign |
Het |
| Keg1 |
A |
T |
19: 12,696,521 (GRCm39) |
N288I |
probably damaging |
Het |
| Ksr1 |
C |
T |
11: 78,935,684 (GRCm39) |
V234I |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,387,555 (GRCm39) |
D3365V |
probably damaging |
Het |
| Luc7l3 |
A |
T |
11: 94,190,894 (GRCm39) |
|
probably null |
Het |
| Mta2 |
T |
C |
19: 8,925,415 (GRCm39) |
I348T |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,640,677 (GRCm39) |
I1015V |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,867,872 (GRCm39) |
S113F |
probably damaging |
Het |
| Or4f7 |
T |
C |
2: 111,644,162 (GRCm39) |
K303R |
probably benign |
Het |
| Pabpn1l |
T |
A |
8: 123,347,122 (GRCm39) |
T228S |
probably damaging |
Het |
| Paxx |
T |
C |
2: 25,349,674 (GRCm39) |
*206W |
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,126 (GRCm39) |
T401A |
probably benign |
Het |
| Ppp1r3a |
A |
C |
6: 14,719,761 (GRCm39) |
D384E |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,967,077 (GRCm39) |
V122A |
probably damaging |
Het |
| Scn4b |
T |
C |
9: 45,057,980 (GRCm39) |
L24P |
probably damaging |
Het |
| Sec22c |
T |
C |
9: 121,513,716 (GRCm39) |
|
probably benign |
Het |
| Sh3rf2 |
A |
G |
18: 42,289,207 (GRCm39) |
D676G |
probably damaging |
Het |
| Slc20a1 |
A |
G |
2: 129,049,604 (GRCm39) |
T289A |
probably benign |
Het |
| Tekt2 |
T |
C |
4: 126,218,418 (GRCm39) |
D84G |
possibly damaging |
Het |
| Tgfbr2 |
T |
A |
9: 115,959,066 (GRCm39) |
N116I |
probably benign |
Het |
| Tmem196 |
A |
G |
12: 119,910,209 (GRCm39) |
M1V |
probably null |
Het |
| Tnn |
A |
G |
1: 159,942,123 (GRCm39) |
V1125A |
probably damaging |
Het |
| Vmn2r51 |
A |
T |
7: 9,834,243 (GRCm39) |
M265K |
probably benign |
Het |
| Zfp319 |
T |
C |
8: 96,050,362 (GRCm39) |
|
probably benign |
Het |
| Zfp65 |
A |
T |
13: 67,856,184 (GRCm39) |
V365E |
possibly damaging |
Het |
| Zp3 |
T |
A |
5: 136,016,464 (GRCm39) |
|
probably null |
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 |
|
IGL02961:Cog8
|
APN |
8 |
107,782,885 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation