Incidental Mutation 'IGL02850:Cog4'
| ID |
361821 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cog4
|
| Ensembl Gene |
ENSMUSG00000031753 |
| Gene Name |
component of oligomeric golgi complex 4 |
| Synonyms |
D8Ertd515e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
IGL02850
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
111573232-111608859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111593221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 444
(G444D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034203]
[ENSMUST00000165867]
[ENSMUST00000172542]
[ENSMUST00000174398]
[ENSMUST00000174679]
|
| AlphaFold |
Q8R1U1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034203
AA Change: G444D
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034203
Gene: ENSMUSG00000031753
AA Change: G444D
| 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: ENSMUST00000165867
AA Change: G371D
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128518
Gene: ENSMUSG00000031753
AA Change: G371D
| 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
AA Change: G106D
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000133283
Gene: ENSMUSG00000031753
AA Change: G106D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COG4
|
1 |
156 |
6.3e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173794
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174398
AA Change: G443D
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000133297
Gene: ENSMUSG00000031753
AA Change: G443D
| 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 |
noncoding transcript
Transcript: ENSMUST00000180679
|
| Coding Region Coverage |
|
| 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 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
G |
3: 59,843,993 (GRCm39) |
Y229C |
probably damaging |
Het |
| Adgrd1 |
A |
G |
5: 129,192,119 (GRCm39) |
D63G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,960 (GRCm39) |
T415A |
probably benign |
Het |
| Antxr2 |
A |
G |
5: 98,151,937 (GRCm39) |
V178A |
probably damaging |
Het |
| Ap1s1 |
A |
G |
5: 137,070,634 (GRCm39) |
Y127H |
possibly damaging |
Het |
| Bbs2 |
A |
T |
8: 94,803,710 (GRCm39) |
M510K |
probably benign |
Het |
| Cbfa2t2 |
A |
G |
2: 154,377,090 (GRCm39) |
N591S |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,861,536 (GRCm39) |
R504* |
probably null |
Het |
| Cnpy3 |
A |
G |
17: 47,054,217 (GRCm39) |
|
probably benign |
Het |
| Cntn2 |
T |
G |
1: 132,446,114 (GRCm39) |
K824T |
probably benign |
Het |
| Cntnap3 |
T |
C |
13: 64,905,223 (GRCm39) |
T853A |
probably damaging |
Het |
| Col18a1 |
A |
T |
10: 76,932,300 (GRCm39) |
I510N |
probably damaging |
Het |
| Cxcr5 |
G |
A |
9: 44,425,403 (GRCm39) |
R85W |
probably damaging |
Het |
| Cyth3 |
C |
A |
5: 143,672,259 (GRCm39) |
T58K |
probably damaging |
Het |
| Dio3 |
T |
C |
12: 110,245,970 (GRCm39) |
V102A |
probably damaging |
Het |
| Dmbx1 |
G |
A |
4: 115,775,204 (GRCm39) |
R359C |
probably damaging |
Het |
| Fam3d |
C |
T |
14: 8,361,475 (GRCm38) |
|
probably null |
Het |
| Fras1 |
C |
A |
5: 96,926,034 (GRCm39) |
P3746Q |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,721,409 (GRCm39) |
M32K |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,229,460 (GRCm39) |
N31S |
probably damaging |
Het |
| Ints11 |
T |
C |
4: 155,959,761 (GRCm39) |
S123P |
probably benign |
Het |
| Izumo2 |
T |
C |
7: 44,358,339 (GRCm39) |
L58S |
probably damaging |
Het |
| Izumo4 |
A |
G |
10: 80,540,032 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,618,029 (GRCm39) |
K487* |
probably null |
Het |
| Lrp12 |
T |
C |
15: 39,741,971 (GRCm39) |
Y248C |
probably damaging |
Het |
| Maco1 |
T |
C |
4: 134,555,697 (GRCm39) |
K259E |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,490,801 (GRCm39) |
D210G |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,890,740 (GRCm39) |
D1038G |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,442,338 (GRCm39) |
T651A |
probably benign |
Het |
| Nop2 |
A |
C |
6: 125,121,048 (GRCm39) |
K610T |
possibly damaging |
Het |
| Nop2 |
G |
T |
6: 125,121,033 (GRCm39) |
G605V |
probably benign |
Het |
| Npvf |
G |
A |
6: 50,629,670 (GRCm39) |
R107W |
probably benign |
Het |
| Or10ad1b |
A |
G |
15: 98,125,232 (GRCm39) |
V98A |
probably benign |
Het |
| Or2h2c |
T |
C |
17: 37,422,865 (GRCm39) |
N3S |
probably benign |
Het |
| Oxr1 |
A |
G |
15: 41,718,329 (GRCm39) |
T775A |
probably damaging |
Het |
| P2ry13 |
C |
T |
3: 59,117,029 (GRCm39) |
A250T |
probably damaging |
Het |
| Pcsk9 |
A |
T |
4: 106,316,062 (GRCm39) |
V127E |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,153,704 (GRCm39) |
S2547F |
probably benign |
Het |
| Pinx1 |
A |
G |
14: 64,156,609 (GRCm39) |
T179A |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,488,795 (GRCm39) |
V322A |
possibly damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,332,413 (GRCm39) |
R476S |
probably benign |
Het |
| Polb |
A |
G |
8: 23,138,277 (GRCm39) |
|
probably benign |
Het |
| Polg2 |
C |
T |
11: 106,659,293 (GRCm39) |
D407N |
probably damaging |
Het |
| Pou5f2 |
G |
A |
13: 78,173,178 (GRCm39) |
R40Q |
probably benign |
Het |
| Sctr |
T |
C |
1: 119,972,393 (GRCm39) |
M193T |
possibly damaging |
Het |
| Sctr |
T |
A |
1: 119,949,909 (GRCm39) |
C33S |
probably damaging |
Het |
| Sema5b |
T |
C |
16: 35,480,885 (GRCm39) |
S819P |
probably benign |
Het |
| Setd1b |
C |
T |
5: 123,286,652 (GRCm39) |
T566I |
unknown |
Het |
| Sptbn4 |
G |
A |
7: 27,126,258 (GRCm39) |
R222C |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,730,197 (GRCm39) |
V129A |
possibly damaging |
Het |
| Tmem163 |
C |
T |
1: 127,427,984 (GRCm39) |
V201I |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,544,310 (GRCm39) |
L569P |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,372,515 (GRCm39) |
E301G |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,914,823 (GRCm39) |
I1660V |
probably benign |
Het |
| Zbtb22 |
T |
A |
17: 34,135,987 (GRCm39) |
L44Q |
probably damaging |
Het |
| Zfp691 |
T |
C |
4: 119,027,389 (GRCm39) |
D281G |
probably damaging |
Het |
| Zfy2 |
C |
T |
Y: 2,106,894 (GRCm39) |
G580D |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,117,188 (GRCm39) |
H213L |
probably benign |
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 |
|
|
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 |
|
|
R8834:Cog4
|
UTSW |
8 |
111,608,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation