Incidental Mutation 'R4560:Cog8'
| ID |
343046 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4560 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
107775341-107783369 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 107778843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034391]
[ENSMUST00000034392]
[ENSMUST00000055316]
[ENSMUST00000095517]
[ENSMUST00000170962]
|
| AlphaFold |
Q9JJA2 |
| Predicted Effect |
probably null
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: ENSMUST00000055316
|
| SMART Domains |
Protein: ENSMUSP00000138676
Gene: ENSMUSG00000078931
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_deformylase
|
52 |
222 |
2.3e-43 |
PFAM |
|
| Predicted Effect |
probably null
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 |
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
C |
14: 56,016,407 (GRCm39) |
|
probably null |
Het |
| Atp8b1 |
A |
T |
18: 64,689,950 (GRCm39) |
L594* |
probably null |
Het |
| Atp8b1 |
C |
T |
18: 64,701,318 (GRCm39) |
V347I |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,392,745 (GRCm39) |
D342G |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,867,084 (GRCm39) |
Y105H |
probably damaging |
Het |
| Ccdc89 |
T |
G |
7: 90,076,336 (GRCm39) |
L182R |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,233,568 (GRCm39) |
F537S |
probably benign |
Het |
| Cidec |
A |
T |
6: 113,405,399 (GRCm39) |
M118K |
probably damaging |
Het |
| Ctif |
A |
T |
18: 75,652,952 (GRCm39) |
L435Q |
probably damaging |
Het |
| Dhx9 |
A |
G |
1: 153,342,903 (GRCm39) |
V533A |
probably damaging |
Het |
| Drc1 |
T |
A |
5: 30,520,441 (GRCm39) |
M594K |
probably benign |
Het |
| Dthd1 |
C |
T |
5: 62,984,435 (GRCm39) |
T380I |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,156,777 (GRCm39) |
S3475P |
possibly damaging |
Het |
| G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
| Hcrtr2 |
A |
G |
9: 76,161,970 (GRCm39) |
V140A |
probably damaging |
Het |
| Ikbke |
C |
T |
1: 131,199,857 (GRCm39) |
C243Y |
probably damaging |
Het |
| Il21 |
C |
A |
3: 37,279,633 (GRCm39) |
E128* |
probably null |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Me3 |
G |
T |
7: 89,498,938 (GRCm39) |
R506L |
probably benign |
Het |
| Mtf2 |
T |
A |
5: 108,234,855 (GRCm39) |
|
probably null |
Het |
| Nbas |
A |
G |
12: 13,633,528 (GRCm39) |
N2311S |
probably benign |
Het |
| Nomo1 |
G |
T |
7: 45,690,904 (GRCm39) |
V97L |
probably damaging |
Het |
| Pcdhb11 |
G |
A |
18: 37,556,787 (GRCm39) |
V706I |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,282,082 (GRCm39) |
R2920C |
probably damaging |
Het |
| Prox2 |
T |
C |
12: 85,141,817 (GRCm39) |
T129A |
probably benign |
Het |
| Rgs18 |
T |
G |
1: 144,631,720 (GRCm39) |
I131L |
probably benign |
Het |
| Rnf19b |
G |
T |
4: 128,965,616 (GRCm39) |
C57F |
probably damaging |
Het |
| Rpl11 |
T |
C |
4: 135,778,522 (GRCm39) |
Y122C |
probably damaging |
Het |
| Sarnp |
A |
G |
10: 128,682,412 (GRCm39) |
K5R |
probably damaging |
Het |
| Scg2 |
A |
T |
1: 79,412,898 (GRCm39) |
H568Q |
probably damaging |
Het |
| Septin10 |
T |
C |
10: 59,019,417 (GRCm39) |
Y150C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Smco2 |
T |
A |
6: 146,772,674 (GRCm39) |
V292D |
possibly damaging |
Het |
| Smok3c |
A |
G |
5: 138,062,746 (GRCm39) |
M78V |
probably benign |
Het |
| Spag16 |
C |
A |
1: 69,883,455 (GRCm39) |
F61L |
probably benign |
Het |
| Spata22 |
G |
A |
11: 73,236,585 (GRCm39) |
R297H |
probably damaging |
Het |
| Spata31d1e |
A |
G |
13: 59,889,571 (GRCm39) |
S750P |
probably damaging |
Het |
| Syt3 |
C |
A |
7: 44,045,368 (GRCm39) |
P536Q |
probably benign |
Het |
| Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
| Trim9 |
A |
C |
12: 70,393,892 (GRCm39) |
Y17* |
probably null |
Het |
| Tsga10 |
A |
G |
1: 37,846,163 (GRCm39) |
M321T |
probably benign |
Het |
| Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
| Ubxn1 |
C |
T |
19: 8,851,588 (GRCm39) |
T207I |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,678,851 (GRCm39) |
V791D |
probably damaging |
Het |
| Vps54 |
C |
G |
11: 21,262,260 (GRCm39) |
C785W |
possibly damaging |
Het |
| Zfp616 |
A |
G |
11: 73,973,860 (GRCm39) |
D43G |
probably benign |
Het |
| Zfp952 |
A |
G |
17: 33,222,928 (GRCm39) |
H469R |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTACTCTATCATAGCTTCTTCCAGG -3'
(R):5'- ATCCTGGGCAGCAGTAACAC -3'
Sequencing Primer
(F):5'- ATCATAGCTTCTTCCAGGATCCC -3'
(R):5'- GCAGCAGTAACACGCCTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation