Incidental Mutation 'IGL01721:Cog8'
ID |
105121 |
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 # |
IGL01721
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
107775341-107783369 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107780697 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 187
(V187A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093173
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034391]
[ENSMUST00000034392]
[ENSMUST00000095517]
[ENSMUST00000170962]
|
AlphaFold |
Q9JJA2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034391
AA Change: V187A
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000034391 Gene: ENSMUSG00000031916 AA Change: V187A
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
AA Change: V187A
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000093173 Gene: ENSMUSG00000031916 AA Change: V187A
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
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
C |
15: 79,023,453 (GRCm39) |
M51V |
possibly damaging |
Het |
Acad8 |
A |
G |
9: 26,903,563 (GRCm39) |
|
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,638,855 (GRCm39) |
V53A |
possibly damaging |
Het |
Bicra |
T |
C |
7: 15,722,624 (GRCm39) |
T298A |
probably benign |
Het |
Ccdc185 |
C |
T |
1: 182,576,543 (GRCm39) |
E49K |
possibly damaging |
Het |
Cfhr2 |
A |
G |
1: 139,741,352 (GRCm39) |
S208P |
probably benign |
Het |
Chd1 |
T |
C |
17: 15,990,430 (GRCm39) |
Y1661H |
probably damaging |
Het |
Cntnap5a |
A |
G |
1: 116,085,367 (GRCm39) |
H435R |
probably benign |
Het |
Col24a1 |
A |
G |
3: 145,244,322 (GRCm39) |
H1532R |
probably benign |
Het |
Dpp6 |
A |
G |
5: 27,836,518 (GRCm39) |
Y336C |
probably damaging |
Het |
Drosha |
T |
A |
15: 12,846,198 (GRCm39) |
Y444* |
probably null |
Het |
Egf |
A |
T |
3: 129,491,371 (GRCm39) |
C374* |
probably null |
Het |
Eif2b3 |
C |
T |
4: 116,916,001 (GRCm39) |
H203Y |
probably damaging |
Het |
Erbb4 |
A |
G |
1: 68,293,722 (GRCm39) |
V723A |
possibly damaging |
Het |
Fbxo21 |
T |
C |
5: 118,126,855 (GRCm39) |
I202T |
probably benign |
Het |
Gbp6 |
T |
C |
5: 105,422,073 (GRCm39) |
M544V |
probably benign |
Het |
Gm10750 |
T |
C |
2: 148,857,964 (GRCm39) |
T96A |
unknown |
Het |
Gm8232 |
A |
T |
14: 44,674,640 (GRCm39) |
|
probably null |
Het |
Gpi-ps |
A |
T |
8: 5,689,896 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma3 |
T |
C |
11: 98,528,782 (GRCm39) |
V412A |
possibly damaging |
Het |
Hs6st1 |
A |
T |
1: 36,108,016 (GRCm39) |
H93L |
probably damaging |
Het |
Hsf2 |
G |
A |
10: 57,372,277 (GRCm39) |
E77K |
probably benign |
Het |
Ing3 |
T |
A |
6: 21,968,879 (GRCm39) |
|
probably benign |
Het |
Ints6 |
T |
C |
14: 62,951,188 (GRCm39) |
I280M |
probably damaging |
Het |
Kazn |
C |
A |
4: 141,886,354 (GRCm39) |
|
probably null |
Het |
Klhl20 |
T |
C |
1: 160,923,157 (GRCm39) |
Y13C |
probably damaging |
Het |
Krtap26-1 |
G |
A |
16: 88,444,060 (GRCm39) |
P187L |
probably damaging |
Het |
Mga |
T |
A |
2: 119,765,720 (GRCm39) |
I1329K |
probably damaging |
Het |
Mindy4 |
A |
G |
6: 55,200,984 (GRCm39) |
D223G |
probably damaging |
Het |
Ncor2 |
T |
C |
5: 125,128,001 (GRCm39) |
E124G |
probably damaging |
Het |
Nfat5 |
G |
A |
8: 108,071,611 (GRCm39) |
|
probably null |
Het |
Nkain1 |
A |
G |
4: 130,532,134 (GRCm38) |
F184L |
probably benign |
Het |
Or8k25 |
T |
C |
2: 86,243,677 (GRCm39) |
T240A |
probably damaging |
Het |
Rars1 |
A |
T |
11: 35,719,491 (GRCm39) |
F110L |
probably damaging |
Het |
Rfx6 |
A |
C |
10: 51,599,173 (GRCm39) |
K509N |
probably damaging |
Het |
Serpinb2 |
T |
C |
1: 107,443,333 (GRCm39) |
L44P |
probably damaging |
Het |
Sin3a |
G |
A |
9: 57,002,609 (GRCm39) |
R167Q |
probably damaging |
Het |
Sos2 |
T |
A |
12: 69,650,641 (GRCm39) |
T809S |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,533,811 (GRCm39) |
E3356G |
probably damaging |
Het |
Vmn1r52 |
A |
G |
6: 90,155,905 (GRCm39) |
T70A |
probably benign |
Het |
|
Other mutations in Cog8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2014-01-21 |