Incidental Mutation 'R4287:Cog1'
| ID |
322070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cog1
|
| Ensembl Gene |
ENSMUSG00000018661 |
| Gene Name |
component of oligomeric golgi complex 1 |
| Synonyms |
|
| MMRRC Submission |
041652-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.853)
|
| Stock # |
R4287 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
113539995-113557880 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113544853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 345
(Y345C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018805]
[ENSMUST00000063776]
[ENSMUST00000125890]
[ENSMUST00000136392]
[ENSMUST00000146031]
[ENSMUST00000148736]
[ENSMUST00000152653]
|
| AlphaFold |
Q9Z160 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018805
AA Change: Y345C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000018805
Gene: ENSMUSG00000018661
AA Change: Y345C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps51
|
12 |
93 |
1.5e-17 |
PFAM |
|
low complexity region
|
95 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
530 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063776
|
| SMART Domains |
Protein: ENSMUSP00000068394
Gene: ENSMUSG00000018661
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps51
|
12 |
93 |
4.7e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125890
|
| SMART Domains |
Protein: ENSMUSP00000115472
Gene: ENSMUSG00000041654
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zip
|
7 |
200 |
3.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134418
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136392
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146031
|
| SMART Domains |
Protein: ENSMUSP00000121286
Gene: ENSMUSG00000041654
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142069
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148736
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152653
|
| Meta Mutation Damage Score |
0.1213 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc5 |
A |
G |
5: 122,938,664 (GRCm39) |
V362A |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,973,722 (GRCm39) |
C2594S |
probably damaging |
Het |
| Ccdc82 |
C |
A |
9: 13,253,043 (GRCm39) |
Q303K |
probably benign |
Het |
| Fpgt |
T |
C |
3: 154,796,997 (GRCm39) |
|
probably benign |
Het |
| Glrb |
A |
T |
3: 80,752,539 (GRCm39) |
V408D |
possibly damaging |
Het |
| Gm7135 |
A |
G |
1: 97,328,123 (GRCm39) |
|
noncoding transcript |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Itgav |
G |
T |
2: 83,555,184 (GRCm39) |
E36* |
probably null |
Het |
| Kidins220 |
G |
A |
12: 25,106,845 (GRCm39) |
E1433K |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klra3 |
A |
G |
6: 130,311,265 (GRCm39) |
C39R |
probably benign |
Het |
| Lce1i |
A |
G |
3: 92,684,742 (GRCm39) |
S145P |
unknown |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
G |
A |
11: 101,914,289 (GRCm39) |
A102V |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,541,130 (GRCm39) |
I107V |
probably benign |
Het |
| Or5h18 |
A |
T |
16: 58,847,976 (GRCm39) |
M98K |
probably benign |
Het |
| Pnn |
C |
T |
12: 59,118,956 (GRCm39) |
T513I |
possibly damaging |
Het |
| Ric8a |
A |
G |
7: 140,441,335 (GRCm39) |
Y210C |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,908,992 (GRCm39) |
V1037M |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 38,115,907 (GRCm39) |
T1089S |
probably benign |
Het |
| Rrs1 |
C |
T |
1: 9,616,440 (GRCm39) |
S231L |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,616,448 (GRCm39) |
R234C |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,379,057 (GRCm39) |
D838G |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,902,276 (GRCm39) |
I464V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Slc41a3 |
A |
T |
6: 90,617,904 (GRCm39) |
H310L |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,828,268 (GRCm39) |
S363P |
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,543,509 (GRCm39) |
R1269Q |
probably benign |
Het |
| Tmed3 |
A |
G |
9: 89,586,951 (GRCm39) |
S10P |
probably benign |
Het |
| Tomm70a |
T |
G |
16: 56,960,985 (GRCm39) |
Y313D |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,207,039 (GRCm39) |
E810G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 29,209,824 (GRCm39) |
Y432F |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,337 (GRCm39) |
|
probably benign |
Het |
| Zfp629 |
T |
C |
7: 127,211,110 (GRCm39) |
Y233C |
probably damaging |
Het |
| Zfp986 |
T |
C |
4: 145,619,088 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cog1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02407:Cog1
|
APN |
11 |
113,544,852 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02631:Cog1
|
APN |
11 |
113,547,304 (GRCm39) |
nonsense |
probably null |
|
|
IGL03258:Cog1
|
APN |
11 |
113,545,919 (GRCm39) |
nonsense |
probably null |
|
|
R0243:Cog1
|
UTSW |
11 |
113,547,821 (GRCm39) |
unclassified |
probably benign |
|
|
R0336:Cog1
|
UTSW |
11 |
113,553,076 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1061:Cog1
|
UTSW |
11 |
113,542,863 (GRCm39) |
missense |
probably benign |
|
|
R1539:Cog1
|
UTSW |
11 |
113,543,058 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1757:Cog1
|
UTSW |
11 |
113,543,130 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1782:Cog1
|
UTSW |
11 |
113,544,792 (GRCm39) |
missense |
probably benign |
|
|
R1924:Cog1
|
UTSW |
11 |
113,547,038 (GRCm39) |
missense |
probably benign |
|
|
R2120:Cog1
|
UTSW |
11 |
113,540,424 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2121:Cog1
|
UTSW |
11 |
113,540,424 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2137:Cog1
|
UTSW |
11 |
113,550,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3809:Cog1
|
UTSW |
11 |
113,545,836 (GRCm39) |
missense |
probably benign |
|
|
R4042:Cog1
|
UTSW |
11 |
113,551,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4679:Cog1
|
UTSW |
11 |
113,543,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Cog1
|
UTSW |
11 |
113,547,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Cog1
|
UTSW |
11 |
113,548,253 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6575:Cog1
|
UTSW |
11 |
113,546,887 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7026:Cog1
|
UTSW |
11 |
113,540,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7233:Cog1
|
UTSW |
11 |
113,540,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8013:Cog1
|
UTSW |
11 |
113,546,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8014:Cog1
|
UTSW |
11 |
113,546,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8027:Cog1
|
UTSW |
11 |
113,543,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Cog1
|
UTSW |
11 |
113,549,324 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9071:Cog1
|
UTSW |
11 |
113,546,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9110:Cog1
|
UTSW |
11 |
113,544,807 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9255:Cog1
|
UTSW |
11 |
113,547,019 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Cog1
|
UTSW |
11 |
113,542,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTGACCCACCTTCCCAAG -3'
(R):5'- TAAGGGTCCACAGGTAGCAGTG -3'
Sequencing Primer
(F):5'- ATTCTCAGAATGCTGTTCAAAGCCC -3'
(R):5'- AGGTAGCAGTGTGCCCTGAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation