Incidental Mutation 'R8237:Cog8'
| ID |
637421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cog8
|
| Ensembl Gene |
ENSMUSG00000031916 |
| Gene Name |
component of oligomeric golgi complex 8 |
| Synonyms |
C87832 |
| MMRRC Submission |
067669-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R8237 (G1)
|
| Quality Score |
194.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
107775341-107783369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107782923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 122
(D122G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034391]
[ENSMUST00000034392]
[ENSMUST00000095517]
[ENSMUST00000170962]
|
| AlphaFold |
Q9JJA2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034391
AA Change: D122G
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916
AA Change: D122G
| 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: D122G
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916
AA Change: D122G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Pfam:Dor1
|
56 |
394 |
7.6e-151 |
PFAM |
|
| Predicted Effect |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.2%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,771,373 (GRCm39) |
L285P |
probably damaging |
Het |
| Abca4 |
T |
C |
3: 121,955,952 (GRCm39) |
I1905T |
probably benign |
Het |
| Abca5 |
A |
T |
11: 110,200,981 (GRCm39) |
I473K |
probably benign |
Het |
| Adgrl3 |
CAA |
CA |
5: 81,935,408 (GRCm39) |
|
probably null |
Het |
| Ap2a1 |
C |
A |
7: 44,550,220 (GRCm39) |
R959L |
probably damaging |
Het |
| Birc6 |
G |
C |
17: 74,918,126 (GRCm39) |
L1845F |
probably damaging |
Het |
| Cbs |
T |
C |
17: 31,834,454 (GRCm39) |
I512V |
probably benign |
Het |
| Ccn4 |
C |
A |
15: 66,791,083 (GRCm39) |
T295N |
probably benign |
Het |
| Ceacam3 |
T |
C |
7: 16,897,082 (GRCm39) |
Y683H |
|
Het |
| Chd8 |
C |
T |
14: 52,450,809 (GRCm39) |
S1426N |
probably damaging |
Het |
| Crybg1 |
G |
A |
10: 43,842,376 (GRCm39) |
Q1772* |
probably null |
Het |
| Cspg4 |
T |
C |
9: 56,799,964 (GRCm39) |
F1576S |
probably damaging |
Het |
| Ctse |
T |
A |
1: 131,590,467 (GRCm39) |
V63E |
probably benign |
Het |
| Dnah3 |
G |
T |
7: 119,525,636 (GRCm39) |
T3917N |
probably benign |
Het |
| Dst |
C |
T |
1: 34,208,874 (GRCm39) |
T1124M |
possibly damaging |
Het |
| Fkbp10 |
A |
G |
11: 100,306,785 (GRCm39) |
Q59R |
probably damaging |
Het |
| Fsip1 |
A |
G |
2: 118,063,483 (GRCm39) |
S329P |
probably damaging |
Het |
| Ginm1 |
G |
T |
10: 7,668,419 (GRCm39) |
S56R |
unknown |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gm6401 |
T |
A |
14: 41,787,452 (GRCm39) |
I125F |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,871,124 (GRCm39) |
D2815G |
possibly damaging |
Het |
| Hes1 |
T |
C |
16: 29,886,047 (GRCm39) |
V217A |
probably damaging |
Het |
| Hsd3b1 |
C |
T |
3: 98,760,426 (GRCm39) |
M188I |
possibly damaging |
Het |
| Ighv1-75 |
T |
C |
12: 115,797,876 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
T |
C |
2: 79,487,614 (GRCm39) |
S566P |
probably benign |
Het |
| Kif1b |
T |
A |
4: 149,275,642 (GRCm39) |
N1423I |
probably benign |
Het |
| Lmntd1 |
G |
A |
6: 145,373,146 (GRCm39) |
T129M |
probably damaging |
Het |
| Lonrf2 |
T |
A |
1: 38,839,854 (GRCm39) |
T414S |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,741,786 (GRCm39) |
D3161G |
|
Het |
| Lyst |
T |
C |
13: 13,826,317 (GRCm39) |
I1608T |
probably benign |
Het |
| Map9 |
C |
T |
3: 82,284,467 (GRCm39) |
P347L |
probably damaging |
Het |
| Mixl1 |
G |
A |
1: 180,524,322 (GRCm39) |
Q86* |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,411,697 (GRCm39) |
S1548P |
unknown |
Het |
| Myo15b |
A |
G |
11: 115,767,827 (GRCm39) |
K1376E |
|
Het |
| Nlrc5 |
A |
G |
8: 95,252,753 (GRCm39) |
T105A |
unknown |
Het |
| Npepps |
A |
G |
11: 97,139,026 (GRCm39) |
|
probably null |
Het |
| Nup205 |
T |
A |
6: 35,204,438 (GRCm39) |
F1441L |
possibly damaging |
Het |
| Or5p69 |
A |
C |
7: 107,967,234 (GRCm39) |
H179P |
probably damaging |
Het |
| Pbx4 |
A |
G |
8: 70,317,093 (GRCm39) |
T117A |
probably benign |
Het |
| Phf2 |
T |
A |
13: 48,976,514 (GRCm39) |
T234S |
unknown |
Het |
| Pik3r2 |
G |
A |
8: 71,224,794 (GRCm39) |
A194V |
probably benign |
Het |
| Plaat1 |
C |
A |
16: 29,039,106 (GRCm39) |
T62K |
probably benign |
Het |
| Plbd2 |
T |
C |
5: 120,637,114 (GRCm39) |
D116G |
probably damaging |
Het |
| Plpp2 |
G |
A |
10: 79,363,294 (GRCm39) |
A235V |
possibly damaging |
Het |
| Prkce |
G |
T |
17: 86,866,646 (GRCm39) |
R502L |
probably damaging |
Het |
| Psrc1 |
C |
T |
3: 108,293,930 (GRCm39) |
A249V |
probably damaging |
Het |
| Ptdss1 |
T |
C |
13: 67,124,841 (GRCm39) |
C347R |
probably damaging |
Het |
| Serpina1b |
C |
A |
12: 103,785,063 (GRCm39) |
|
probably null |
Het |
| Spcs1 |
C |
G |
14: 30,722,658 (GRCm39) |
A113P |
noncoding transcript |
Het |
| Stxbp2 |
C |
T |
8: 3,685,695 (GRCm39) |
T247M |
|
Het |
| Tex15 |
A |
G |
8: 34,067,427 (GRCm39) |
T2286A |
possibly damaging |
Het |
| Usp45 |
T |
G |
4: 21,834,274 (GRCm39) |
V736G |
probably damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,060,340 (GRCm39) |
S415P |
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,578,269 (GRCm39) |
E948G |
possibly damaging |
Het |
| Zfp942 |
A |
T |
17: 22,147,226 (GRCm39) |
C468S |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,016,544 (GRCm39) |
E775G |
probably damaging |
Het |
| Zranb2 |
A |
G |
3: 157,250,677 (GRCm39) |
R283G |
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 |
|
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 |
|
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'- ACTGGGATCACAAGTGTCAATAAG -3'
(R):5'- GTACCGTGCTTGAGAGATGG -3'
Sequencing Primer
(F):5'- CTAGCTGTGTTCTTGGACAAGTCAC -3'
(R):5'- TGGAAGATGAGGGCCTCCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation