Incidental Mutation 'R8185:Cog7'
| ID |
634822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cog7
|
| Ensembl Gene |
ENSMUSG00000034951 |
| Gene Name |
component of oligomeric golgi complex 7 |
| Synonyms |
5630400E24Rik |
| MMRRC Submission |
067608-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8185 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
121522059-121580940 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121576969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 63
(L63P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057576]
[ENSMUST00000205438]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057576
AA Change: L63P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058990
Gene: ENSMUSG00000034951
AA Change: L63P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COG7
|
2 |
767 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205438
AA Change: L63P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| 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 resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
C |
5: 88,120,011 (GRCm39) |
V256A |
possibly damaging |
Het |
| Ackr3 |
G |
A |
1: 90,141,666 (GRCm39) |
V42M |
probably benign |
Het |
| C9 |
T |
A |
15: 6,520,878 (GRCm39) |
I441N |
probably damaging |
Het |
| Cd44 |
G |
A |
2: 102,654,665 (GRCm39) |
A667V |
possibly damaging |
Het |
| Cdc23 |
T |
C |
18: 34,774,197 (GRCm39) |
N322D |
probably benign |
Het |
| Chrm2 |
A |
G |
6: 36,500,824 (GRCm39) |
N227S |
probably benign |
Het |
| Cnot1 |
C |
T |
8: 96,487,979 (GRCm39) |
R559Q |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,391,897 (GRCm39) |
N121D |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,854,168 (GRCm39) |
A285V |
probably benign |
Het |
| Cpsf7 |
C |
T |
19: 10,514,224 (GRCm39) |
R343* |
probably null |
Het |
| Cubn |
T |
G |
2: 13,299,129 (GRCm39) |
K3181N |
probably benign |
Het |
| Dsg1a |
C |
T |
18: 20,473,669 (GRCm39) |
T914I |
probably damaging |
Het |
| Ebf3 |
A |
T |
7: 136,827,607 (GRCm39) |
C255S |
possibly damaging |
Het |
| Eif1ad5 |
T |
A |
12: 87,940,433 (GRCm39) |
W46R |
noncoding transcript |
Het |
| Fasn |
A |
T |
11: 120,702,969 (GRCm39) |
I1658N |
probably benign |
Het |
| Fcgr2b |
A |
G |
1: 170,794,020 (GRCm39) |
V210A |
probably damaging |
Het |
| Flvcr1 |
G |
A |
1: 190,747,681 (GRCm39) |
P305S |
probably damaging |
Het |
| Frem3 |
G |
T |
8: 81,338,933 (GRCm39) |
E409* |
probably null |
Het |
| Gabrr2 |
T |
A |
4: 33,082,330 (GRCm39) |
D213E |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,040 (GRCm39) |
D418E |
possibly damaging |
Het |
| Immt |
C |
T |
6: 71,849,835 (GRCm39) |
Q530* |
probably null |
Het |
| Ints10 |
T |
C |
8: 69,249,370 (GRCm39) |
F67L |
possibly damaging |
Het |
| Kdm4c |
C |
T |
4: 74,291,821 (GRCm39) |
H813Y |
probably benign |
Het |
| Klhl5 |
T |
A |
5: 65,313,471 (GRCm39) |
M395K |
probably damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,426,332 (GRCm39) |
I49T |
probably damaging |
Het |
| Lmln |
A |
T |
16: 32,909,690 (GRCm39) |
N357I |
probably damaging |
Het |
| Lpar1 |
A |
T |
4: 58,486,509 (GRCm39) |
M254K |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,894 (GRCm39) |
V554A |
probably damaging |
Het |
| Melk |
G |
A |
4: 44,360,965 (GRCm39) |
V582I |
probably benign |
Het |
| Mmp27 |
A |
G |
9: 7,573,492 (GRCm39) |
T195A |
unknown |
Het |
| Nedd4l |
T |
C |
18: 65,342,769 (GRCm39) |
F781L |
probably damaging |
Het |
| Nvl |
G |
A |
1: 180,971,739 (GRCm39) |
|
probably benign |
Het |
| Nxpe4 |
G |
A |
9: 48,304,509 (GRCm39) |
D199N |
possibly damaging |
Het |
| Or2k2 |
T |
C |
4: 58,785,542 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or8b8 |
A |
C |
9: 37,809,531 (GRCm39) |
Y277S |
probably damaging |
Het |
| Ovol1 |
T |
C |
19: 5,601,542 (GRCm39) |
D160G |
probably damaging |
Het |
| Ppp1r13l |
C |
T |
7: 19,106,863 (GRCm39) |
P453S |
probably benign |
Het |
| Ppp1r37 |
C |
T |
7: 19,266,873 (GRCm39) |
G373S |
probably damaging |
Het |
| Slc7a9 |
T |
C |
7: 35,151,842 (GRCm39) |
S46P |
probably damaging |
Het |
| Sntn |
A |
G |
14: 13,679,014 (GRCm38) |
I63V |
probably benign |
Het |
| Syde2 |
T |
C |
3: 145,694,667 (GRCm39) |
V305A |
probably benign |
Het |
| Tpp1 |
A |
T |
7: 105,398,430 (GRCm39) |
|
probably null |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,163 (GRCm39) |
N118I |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
|
| Other mutations in Cog7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02023:Cog7
|
APN |
7 |
121,543,000 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02094:Cog7
|
APN |
7 |
121,562,470 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02113:Cog7
|
APN |
7 |
121,524,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02151:Cog7
|
APN |
7 |
121,543,031 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02365:Cog7
|
APN |
7 |
121,576,959 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02398:Cog7
|
APN |
7 |
121,563,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02732:Cog7
|
APN |
7 |
121,522,590 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02887:Cog7
|
APN |
7 |
121,543,067 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0143:Cog7
|
UTSW |
7 |
121,550,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0446:Cog7
|
UTSW |
7 |
121,536,295 (GRCm39) |
missense |
probably benign |
|
|
R0521:Cog7
|
UTSW |
7 |
121,540,392 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0526:Cog7
|
UTSW |
7 |
121,562,494 (GRCm39) |
splice site |
probably null |
|
|
R0658:Cog7
|
UTSW |
7 |
121,555,363 (GRCm39) |
splice site |
probably benign |
|
|
R0782:Cog7
|
UTSW |
7 |
121,543,020 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1029:Cog7
|
UTSW |
7 |
121,529,752 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1419:Cog7
|
UTSW |
7 |
121,555,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1521:Cog7
|
UTSW |
7 |
121,529,797 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1639:Cog7
|
UTSW |
7 |
121,580,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2023:Cog7
|
UTSW |
7 |
121,536,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3896:Cog7
|
UTSW |
7 |
121,540,392 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4240:Cog7
|
UTSW |
7 |
121,524,707 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4731:Cog7
|
UTSW |
7 |
121,563,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4732:Cog7
|
UTSW |
7 |
121,563,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4733:Cog7
|
UTSW |
7 |
121,563,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4838:Cog7
|
UTSW |
7 |
121,570,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Cog7
|
UTSW |
7 |
121,549,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5237:Cog7
|
UTSW |
7 |
121,550,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5353:Cog7
|
UTSW |
7 |
121,540,470 (GRCm39) |
splice site |
probably null |
|
|
R5609:Cog7
|
UTSW |
7 |
121,524,683 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5964:Cog7
|
UTSW |
7 |
121,555,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6544:Cog7
|
UTSW |
7 |
121,534,966 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6784:Cog7
|
UTSW |
7 |
121,563,516 (GRCm39) |
splice site |
probably null |
|
|
R7110:Cog7
|
UTSW |
7 |
121,534,999 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7212:Cog7
|
UTSW |
7 |
121,576,537 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7304:Cog7
|
UTSW |
7 |
121,536,362 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8207:Cog7
|
UTSW |
7 |
121,576,515 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8838:Cog7
|
UTSW |
7 |
121,549,106 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9116:Cog7
|
UTSW |
7 |
121,570,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9582:Cog7
|
UTSW |
7 |
121,536,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9752:Cog7
|
UTSW |
7 |
121,580,639 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0066:Cog7
|
UTSW |
7 |
121,576,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAATCCCCGTGAGCCAGATC -3'
(R):5'- CATGGTCTGGTTGAGGTCAC -3'
Sequencing Primer
(F):5'- TGAGCCAGATCACCTGCAG -3'
(R):5'- AGGTCACCTCGCTGACC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation