Incidental Mutation 'R4042:Cog1'
| ID |
315779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cog1
|
| Ensembl Gene |
ENSMUSG00000018661 |
| Gene Name |
component of oligomeric golgi complex 1 |
| Synonyms |
|
| MMRRC Submission |
040851-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.830)
|
| Stock # |
R4042 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
113539995-113557880 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 113551836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 156
(Q156L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018805]
[ENSMUST00000063776]
[ENSMUST00000120194]
[ENSMUST00000152653]
[ENSMUST00000148736]
|
| AlphaFold |
Q9Z160 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018805
AA Change: Q894L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018805
Gene: ENSMUSG00000018661
AA Change: Q894L
| 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 damaging
Transcript: ENSMUST00000063776
AA Change: Q310L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068394
Gene: ENSMUSG00000018661
AA Change: Q310L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps51
|
12 |
93 |
4.7e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120194
|
| SMART Domains |
Protein: ENSMUSP00000113652
Gene: ENSMUSG00000041629
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
71 |
N/A |
INTRINSIC |
|
Pfam:FAM104
|
75 |
185 |
3.1e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123085
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134418
AA Change: R97W
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137878
AA Change: Q54L
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000142069
AA Change: Q110L
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152653
AA Change: R62W
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148736
AA Change: Q156L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
A |
G |
17: 33,768,514 (GRCm39) |
H864R |
possibly damaging |
Het |
| Akap6 |
A |
T |
12: 53,186,162 (GRCm39) |
|
probably null |
Het |
| Alox5 |
A |
G |
6: 116,437,979 (GRCm39) |
S3P |
possibly damaging |
Het |
| Bcl2l2 |
G |
A |
14: 55,122,091 (GRCm39) |
E85K |
possibly damaging |
Het |
| Chd6 |
A |
T |
2: 160,830,253 (GRCm39) |
I1014N |
probably damaging |
Het |
| Col28a1 |
G |
A |
6: 8,014,678 (GRCm39) |
S909F |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,477,480 (GRCm39) |
G3339D |
probably damaging |
Het |
| Cst11 |
A |
G |
2: 148,613,200 (GRCm39) |
S42P |
probably benign |
Het |
| Cyp2d10 |
C |
T |
15: 82,290,269 (GRCm39) |
R67H |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,813,896 (GRCm39) |
R3405L |
probably benign |
Het |
| H2-Ab1 |
T |
C |
17: 34,483,834 (GRCm39) |
V65A |
probably benign |
Het |
| Hdac6 |
T |
C |
X: 7,797,731 (GRCm39) |
T993A |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,721,134 (GRCm39) |
M1095K |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,616,995 (GRCm39) |
N517I |
probably damaging |
Het |
| Krt10 |
C |
T |
11: 99,277,819 (GRCm39) |
|
probably null |
Het |
| Mettl16 |
T |
A |
11: 74,683,118 (GRCm39) |
F187I |
probably damaging |
Het |
| Miga2 |
T |
C |
2: 30,257,738 (GRCm39) |
I12T |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,418,624 (GRCm39) |
Y3857H |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,317,871 (GRCm39) |
S165P |
probably damaging |
Het |
| Or5bb10 |
A |
T |
19: 12,206,676 (GRCm39) |
I83N |
probably benign |
Het |
| Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,934,241 (GRCm39) |
D823G |
probably benign |
Het |
| Ppme1 |
A |
G |
7: 99,990,272 (GRCm39) |
S226P |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,975,909 (GRCm39) |
F96S |
probably damaging |
Het |
| Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
| Prune2 |
T |
C |
19: 16,981,190 (GRCm39) |
|
probably null |
Het |
| Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Homo |
| Rgl2 |
C |
T |
17: 34,156,236 (GRCm39) |
R775W |
probably damaging |
Het |
| Rpp40 |
A |
G |
13: 36,082,549 (GRCm39) |
C275R |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,761,450 (GRCm39) |
Y162H |
probably benign |
Het |
| Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,991,584 (GRCm39) |
M8377V |
probably benign |
Het |
| Uchl4 |
A |
C |
9: 64,142,839 (GRCm39) |
I107L |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,870,952 (GRCm39) |
E276G |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
| Ythdc1 |
T |
C |
5: 86,964,383 (GRCm39) |
I76T |
probably benign |
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 |
|
|
R4287:Cog1
|
UTSW |
11 |
113,544,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GTACATTTTCCCAAACAAAGGTTAAA -3'
(R):5'- TTGGGTTTCAACGCTTCTACTGG -3'
Sequencing Primer
(F):5'- CAGCCTGGTCTATAAAGTGAGTTCC -3'
(R):5'- AACGCTTCTACTGGTTGCC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation