Incidental Mutation 'IGL03385:G3bp2'
| ID |
420841 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
G3bp2
|
| Ensembl Gene |
ENSMUSG00000029405 |
| Gene Name |
G3BP stress granule assembly factor 2 |
| Synonyms |
G3BP, E430034L04Rik, G3BP2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03385
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92200005-92231578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92216254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 94
(V94A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113127]
[ENSMUST00000164378]
[ENSMUST00000167918]
[ENSMUST00000169094]
[ENSMUST00000201820]
[ENSMUST00000202123]
[ENSMUST00000202258]
|
| AlphaFold |
P97379 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113127
AA Change: V94A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108752
Gene: ENSMUSG00000029405
AA Change: V94A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
133 |
8.4e-34 |
PFAM |
|
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
279 |
N/A |
INTRINSIC |
|
RRM
|
299 |
372 |
6.07e-14 |
SMART |
|
low complexity region
|
376 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164378
AA Change: V94A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128353
Gene: ENSMUSG00000029405
AA Change: V94A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
133 |
5.5e-36 |
PFAM |
|
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
312 |
N/A |
INTRINSIC |
|
RRM
|
332 |
405 |
6.07e-14 |
SMART |
|
low complexity region
|
409 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167918
AA Change: V94A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132469
Gene: ENSMUSG00000029405
AA Change: V94A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
133 |
8.4e-34 |
PFAM |
|
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
279 |
N/A |
INTRINSIC |
|
RRM
|
299 |
372 |
6.07e-14 |
SMART |
|
low complexity region
|
376 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169094
AA Change: V94A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128244
Gene: ENSMUSG00000029405
AA Change: V94A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
133 |
1.1e-34 |
PFAM |
|
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
312 |
N/A |
INTRINSIC |
|
RRM
|
332 |
405 |
6.07e-14 |
SMART |
|
low complexity region
|
409 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201820
AA Change: V94A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144404
Gene: ENSMUSG00000029405
AA Change: V94A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
117 |
9.5e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201824
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202123
AA Change: V94A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143804
Gene: ENSMUSG00000029405
AA Change: V94A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
133 |
5.2e-34 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202258
AA Change: V94A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144456
Gene: ENSMUSG00000029405
AA Change: V94A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
133 |
5.5e-36 |
PFAM |
|
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
312 |
N/A |
INTRINSIC |
|
RRM
|
332 |
405 |
6.07e-14 |
SMART |
|
low complexity region
|
409 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202352
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs9 |
A |
G |
9: 22,555,044 (GRCm39) |
T444A |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 109,993,516 (GRCm39) |
T324A |
possibly damaging |
Het |
| Col14a1 |
C |
A |
15: 55,273,600 (GRCm39) |
T723K |
unknown |
Het |
| Col14a1 |
G |
A |
15: 55,335,104 (GRCm39) |
G1513S |
unknown |
Het |
| Col1a2 |
C |
A |
6: 4,539,612 (GRCm39) |
N1293K |
unknown |
Het |
| Ctdp1 |
T |
C |
18: 80,493,133 (GRCm39) |
D454G |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gm973 |
A |
G |
1: 59,621,629 (GRCm39) |
S590G |
probably benign |
Het |
| Gon4l |
A |
T |
3: 88,814,850 (GRCm39) |
T1940S |
probably benign |
Het |
| Itk |
G |
A |
11: 46,222,688 (GRCm39) |
Q594* |
probably null |
Het |
| Kcnc2 |
G |
A |
10: 112,291,691 (GRCm39) |
C293Y |
probably damaging |
Het |
| Krit1 |
A |
G |
5: 3,857,452 (GRCm39) |
I86V |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,831,565 (GRCm39) |
L1663* |
probably null |
Het |
| Moxd2 |
T |
C |
6: 40,855,952 (GRCm39) |
T546A |
probably damaging |
Het |
| Myo7b |
G |
T |
18: 32,122,630 (GRCm39) |
Q717K |
probably benign |
Het |
| Or2a51 |
T |
C |
6: 43,178,914 (GRCm39) |
V112A |
probably benign |
Het |
| Or2ad1 |
A |
G |
13: 21,326,657 (GRCm39) |
V190A |
probably benign |
Het |
| Ostm1 |
A |
C |
10: 42,574,140 (GRCm39) |
N123H |
probably damaging |
Het |
| Pcdh10 |
A |
C |
3: 45,335,947 (GRCm39) |
S754R |
possibly damaging |
Het |
| Pomt2 |
A |
T |
12: 87,163,330 (GRCm39) |
L613Q |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,208 (GRCm39) |
N351I |
probably damaging |
Het |
| Serpinb9 |
T |
C |
13: 33,191,979 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
T |
A |
8: 106,677,496 (GRCm39) |
|
probably benign |
Het |
| Smgc |
T |
A |
15: 91,726,181 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Tor1a |
A |
G |
2: 30,853,739 (GRCm39) |
V197A |
possibly damaging |
Het |
| Ttc4 |
A |
G |
4: 106,525,397 (GRCm39) |
S246P |
probably benign |
Het |
| Tti1 |
G |
A |
2: 157,834,945 (GRCm39) |
A1005V |
possibly damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,338,824 (GRCm39) |
I63F |
probably damaging |
Het |
|
| Other mutations in G3bp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00687:G3bp2
|
APN |
5 |
92,213,707 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02124:G3bp2
|
APN |
5 |
92,221,106 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02519:G3bp2
|
APN |
5 |
92,214,383 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03146:G3bp2
|
APN |
5 |
92,214,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03183:G3bp2
|
APN |
5 |
92,202,905 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03195:G3bp2
|
APN |
5 |
92,216,367 (GRCm39) |
splice site |
probably benign |
|
|
R0558:G3bp2
|
UTSW |
5 |
92,221,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1067:G3bp2
|
UTSW |
5 |
92,211,187 (GRCm39) |
splice site |
probably benign |
|
|
R1621:G3bp2
|
UTSW |
5 |
92,204,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2294:G3bp2
|
UTSW |
5 |
92,205,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3698:G3bp2
|
UTSW |
5 |
92,204,139 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4159:G3bp2
|
UTSW |
5 |
92,212,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4195:G3bp2
|
UTSW |
5 |
92,203,275 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4754:G3bp2
|
UTSW |
5 |
92,202,768 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5518:G3bp2
|
UTSW |
5 |
92,216,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5680:G3bp2
|
UTSW |
5 |
92,216,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5937:G3bp2
|
UTSW |
5 |
92,203,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8769:G3bp2
|
UTSW |
5 |
92,231,356 (GRCm39) |
intron |
probably benign |
|
|
R8945:G3bp2
|
UTSW |
5 |
92,216,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:G3bp2
|
UTSW |
5 |
92,214,388 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Posted On |
2016-08-02 |
Incidental Mutation