Incidental Mutation 'R8834:Cog4'
ID |
674033 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cog4
|
Ensembl Gene |
ENSMUSG00000031753 |
Gene Name |
component of oligomeric golgi complex 4 |
Synonyms |
D8Ertd515e |
MMRRC Submission |
068662-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.955)
|
Stock # |
R8834 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
111573232-111608859 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111608049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 714
(Y714C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034203
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034203]
[ENSMUST00000041382]
[ENSMUST00000165867]
[ENSMUST00000172542]
[ENSMUST00000174398]
[ENSMUST00000174679]
[ENSMUST00000212971]
|
AlphaFold |
Q8R1U1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034203
AA Change: Y714C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034203 Gene: ENSMUSG00000031753 AA Change: Y714C
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
coiled coil region
|
34 |
77 |
N/A |
INTRINSIC |
Blast:Cog4
|
81 |
178 |
1e-53 |
BLAST |
Cog4
|
188 |
498 |
1.81e-140 |
SMART |
Pfam:RINT1_TIP1
|
536 |
773 |
3.1e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041382
|
SMART Domains |
Protein: ENSMUSP00000039271 Gene: ENSMUSG00000033703
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
37 |
N/A |
INTRINSIC |
Pfam:Fucokinase
|
94 |
496 |
1.7e-101 |
PFAM |
low complexity region
|
807 |
821 |
N/A |
INTRINSIC |
Pfam:GHMP_kinases_N
|
827 |
894 |
3.6e-9 |
PFAM |
Pfam:GHMP_kinases_C
|
970 |
1052 |
1e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165867
AA Change: Y641C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128518 Gene: ENSMUSG00000031753 AA Change: Y641C
Domain | Start | End | E-Value | Type |
Blast:Cog4
|
8 |
105 |
6e-54 |
BLAST |
Cog4
|
115 |
425 |
1.81e-140 |
SMART |
PDB:3HR0|B
|
452 |
712 |
1e-174 |
PDB |
Blast:DIL
|
621 |
702 |
6e-38 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172542
|
SMART Domains |
Protein: ENSMUSP00000133283 Gene: ENSMUSG00000031753
Domain | Start | End | E-Value | Type |
Pfam:COG4
|
1 |
156 |
6.3e-43 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174398
AA Change: Y692C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133297 Gene: ENSMUSG00000031753 AA Change: Y692C
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
coiled coil region
|
33 |
76 |
N/A |
INTRINSIC |
Blast:Cog4
|
80 |
177 |
9e-54 |
BLAST |
Cog4
|
187 |
497 |
1.81e-140 |
SMART |
PDB:3HR0|B
|
524 |
763 |
1e-153 |
PDB |
Blast:DIL
|
672 |
753 |
7e-38 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174679
|
SMART Domains |
Protein: ENSMUSP00000133458 Gene: ENSMUSG00000031753
Domain | Start | End | E-Value | Type |
Blast:Cog4
|
27 |
174 |
5e-60 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212971
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (44/44) |
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 a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]
|
Allele List at MGI |
All alleles(13) : Gene trapped(13) |
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,877,372 (GRCm39) |
T1007A |
probably benign |
Het |
Adcy6 |
A |
G |
15: 98,498,922 (GRCm39) |
L293P |
possibly damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,471,735 (GRCm39) |
V260E |
possibly damaging |
Het |
Capn3 |
T |
A |
2: 120,294,534 (GRCm39) |
F61I |
probably damaging |
Het |
Cdh9 |
A |
G |
15: 16,850,964 (GRCm39) |
S578G |
probably damaging |
Het |
Dnah14 |
T |
G |
1: 181,444,315 (GRCm39) |
F542V |
possibly damaging |
Het |
Dock8 |
T |
C |
19: 25,140,834 (GRCm39) |
V1350A |
probably benign |
Het |
Eps8 |
A |
G |
6: 137,504,306 (GRCm39) |
|
probably benign |
Het |
Fat3 |
C |
T |
9: 15,942,493 (GRCm39) |
G1293E |
probably damaging |
Het |
Fnip1 |
T |
C |
11: 54,395,581 (GRCm39) |
V985A |
possibly damaging |
Het |
Frem1 |
T |
C |
4: 82,922,610 (GRCm39) |
D397G |
probably damaging |
Het |
Gan |
C |
G |
8: 117,885,031 (GRCm39) |
P53R |
|
Het |
Gcc2 |
T |
C |
10: 58,121,867 (GRCm39) |
|
probably null |
Het |
Glb1l2 |
C |
T |
9: 26,689,314 (GRCm39) |
|
probably null |
Het |
Gm973 |
T |
C |
1: 59,563,820 (GRCm39) |
F2L |
|
Het |
Heatr5a |
A |
G |
12: 51,956,739 (GRCm39) |
|
probably null |
Het |
Kifc2 |
T |
A |
15: 76,551,250 (GRCm39) |
H681Q |
probably damaging |
Het |
Krt16 |
T |
A |
11: 100,139,236 (GRCm39) |
S161C |
probably damaging |
Het |
Lrrc3b |
A |
G |
14: 15,358,562 (GRCm38) |
C15R |
possibly damaging |
Het |
Lrrc66 |
C |
G |
5: 73,765,928 (GRCm39) |
A372P |
possibly damaging |
Het |
Ly75 |
C |
T |
2: 60,161,433 (GRCm39) |
R884H |
probably benign |
Het |
Map2k6 |
T |
A |
11: 110,383,419 (GRCm39) |
C109* |
probably null |
Het |
Mapk9 |
C |
T |
11: 49,774,010 (GRCm39) |
S389L |
probably damaging |
Het |
Mier2 |
C |
T |
10: 79,386,293 (GRCm39) |
G57D |
unknown |
Het |
Mis18bp1 |
A |
T |
12: 65,208,419 (GRCm39) |
M98K |
probably benign |
Het |
Mrtfa |
A |
G |
15: 80,904,511 (GRCm39) |
L196P |
probably benign |
Het |
Or1e17 |
T |
C |
11: 73,831,164 (GRCm39) |
F31L |
possibly damaging |
Het |
Pcsk7 |
A |
G |
9: 45,830,589 (GRCm39) |
S456G |
possibly damaging |
Het |
Phf12 |
T |
A |
11: 77,897,608 (GRCm39) |
C102S |
probably damaging |
Het |
Ppm1k |
A |
G |
6: 57,502,023 (GRCm39) |
C47R |
probably benign |
Het |
Rgs10 |
A |
G |
7: 127,990,809 (GRCm39) |
I93T |
probably damaging |
Het |
Ror2 |
CCCTCCTCCTCCTCCTC |
CCCTCCTCCTCCTC |
13: 53,264,338 (GRCm39) |
|
probably benign |
Het |
Rusc2 |
T |
A |
4: 43,416,431 (GRCm39) |
F579Y |
possibly damaging |
Het |
Selplg |
G |
A |
5: 113,957,691 (GRCm39) |
S205L |
possibly damaging |
Het |
Sh3gl3 |
T |
C |
7: 81,955,999 (GRCm39) |
V109A |
possibly damaging |
Het |
Tanc2 |
T |
C |
11: 105,807,845 (GRCm39) |
S336P |
|
Het |
Tlr2 |
C |
A |
3: 83,746,020 (GRCm39) |
R21L |
probably benign |
Het |
Trpa1 |
C |
T |
1: 14,963,528 (GRCm39) |
V565I |
possibly damaging |
Het |
Ubqln1 |
A |
T |
13: 58,331,058 (GRCm39) |
S390T |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,833,785 (GRCm39) |
V1514A |
probably benign |
Het |
Uchl5 |
A |
T |
1: 143,661,968 (GRCm39) |
K81* |
probably null |
Het |
Unc13b |
T |
C |
4: 43,175,954 (GRCm39) |
F2261L |
unknown |
Het |
Usp12 |
T |
A |
5: 146,691,327 (GRCm39) |
E142D |
probably benign |
Het |
V1ra8 |
A |
T |
6: 90,180,622 (GRCm39) |
D275V |
unknown |
Het |
Zfp804a |
A |
G |
2: 82,089,441 (GRCm39) |
H1090R |
possibly damaging |
Het |
|
Other mutations in Cog4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01462:Cog4
|
APN |
8 |
111,592,717 (GRCm39) |
missense |
probably benign |
0.44 |
IGL01631:Cog4
|
APN |
8 |
111,608,472 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01756:Cog4
|
APN |
8 |
111,580,391 (GRCm39) |
nonsense |
probably null |
|
IGL02850:Cog4
|
APN |
8 |
111,593,221 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02932:Cog4
|
APN |
8 |
111,579,065 (GRCm39) |
missense |
probably benign |
0.16 |
IGL03232:Cog4
|
APN |
8 |
111,607,314 (GRCm39) |
splice site |
probably null |
|
Deminimis
|
UTSW |
8 |
111,608,112 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4362001:Cog4
|
UTSW |
8 |
111,593,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R0350:Cog4
|
UTSW |
8 |
111,580,328 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1368:Cog4
|
UTSW |
8 |
111,585,157 (GRCm39) |
unclassified |
probably benign |
|
R1531:Cog4
|
UTSW |
8 |
111,606,353 (GRCm39) |
missense |
probably benign |
0.30 |
R2110:Cog4
|
UTSW |
8 |
111,585,214 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2112:Cog4
|
UTSW |
8 |
111,585,214 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2867:Cog4
|
UTSW |
8 |
111,593,291 (GRCm39) |
intron |
probably benign |
|
R4239:Cog4
|
UTSW |
8 |
111,585,244 (GRCm39) |
missense |
probably damaging |
0.98 |
R4867:Cog4
|
UTSW |
8 |
111,593,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R4967:Cog4
|
UTSW |
8 |
111,578,915 (GRCm39) |
splice site |
probably null |
|
R5124:Cog4
|
UTSW |
8 |
111,573,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R5655:Cog4
|
UTSW |
8 |
111,589,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R6024:Cog4
|
UTSW |
8 |
111,608,112 (GRCm39) |
missense |
probably damaging |
0.98 |
R6347:Cog4
|
UTSW |
8 |
111,607,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R6475:Cog4
|
UTSW |
8 |
111,607,526 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6526:Cog4
|
UTSW |
8 |
111,608,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R6542:Cog4
|
UTSW |
8 |
111,577,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R6545:Cog4
|
UTSW |
8 |
111,607,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R7248:Cog4
|
UTSW |
8 |
111,608,834 (GRCm39) |
missense |
unknown |
|
R7292:Cog4
|
UTSW |
8 |
111,608,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R7356:Cog4
|
UTSW |
8 |
111,576,498 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7440:Cog4
|
UTSW |
8 |
111,606,338 (GRCm39) |
missense |
probably benign |
0.06 |
R7751:Cog4
|
UTSW |
8 |
111,607,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R8170:Cog4
|
UTSW |
8 |
111,592,663 (GRCm39) |
missense |
probably damaging |
0.98 |
R8181:Cog4
|
UTSW |
8 |
111,578,717 (GRCm39) |
splice site |
probably null |
|
R8837:Cog4
|
UTSW |
8 |
111,579,004 (GRCm39) |
missense |
probably benign |
0.45 |
R9155:Cog4
|
UTSW |
8 |
111,608,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R9469:Cog4
|
UTSW |
8 |
111,608,804 (GRCm39) |
missense |
unknown |
|
Z1177:Cog4
|
UTSW |
8 |
111,605,647 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AATCTAGACCCTGCTCTGGCTG -3'
(R):5'- TTGTAGAACTGTGCTGCTAGC -3'
Sequencing Primer
(F):5'- TCAGACTCAGACCATCGGGATTG -3'
(R):5'- CTGCTAGCAAGTAAGGGCGC -3'
|
Posted On |
2021-07-15 |