Incidental Mutation 'IGL03183:G3bp2'
ID |
412334 |
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 # |
IGL03183
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
92200005-92231578 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 92202905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 362
(M362R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113127]
[ENSMUST00000164378]
[ENSMUST00000167918]
[ENSMUST00000169094]
[ENSMUST00000202258]
|
AlphaFold |
P97379 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113127
AA Change: M362R
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108752 Gene: ENSMUSG00000029405 AA Change: M362R
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 |
noncoding transcript
Transcript: ENSMUST00000158087
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164378
AA Change: M395R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000128353 Gene: ENSMUSG00000029405 AA Change: M395R
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 |
possibly damaging
Transcript: ENSMUST00000167918
AA Change: M362R
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132469 Gene: ENSMUSG00000029405 AA Change: M362R
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 |
possibly damaging
Transcript: ENSMUST00000169094
AA Change: M395R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000128244 Gene: ENSMUSG00000029405 AA Change: M395R
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 |
noncoding transcript
Transcript: ENSMUST00000181481
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201824
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202258
AA Change: M395R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000144456 Gene: ENSMUSG00000029405 AA Change: M395R
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: ENSMUST00000202352
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh6a1 |
A |
G |
12: 84,483,214 (GRCm39) |
|
probably null |
Het |
Ano2 |
A |
T |
6: 125,687,592 (GRCm39) |
K32N |
probably benign |
Het |
Asic1 |
A |
G |
15: 99,569,898 (GRCm39) |
H73R |
probably benign |
Het |
B3glct |
A |
G |
5: 149,677,607 (GRCm39) |
D412G |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,733,640 (GRCm39) |
I1891V |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,889,721 (GRCm39) |
E1278G |
probably damaging |
Het |
Ccdc116 |
T |
C |
16: 16,960,718 (GRCm39) |
E33G |
probably benign |
Het |
Celf4 |
T |
A |
18: 25,670,796 (GRCm39) |
Q129L |
probably benign |
Het |
Celf4 |
G |
T |
18: 25,670,797 (GRCm39) |
Q129K |
probably benign |
Het |
Cfap251 |
A |
G |
5: 123,392,682 (GRCm39) |
|
probably benign |
Het |
Col18a1 |
A |
G |
10: 76,909,588 (GRCm39) |
S817P |
probably damaging |
Het |
Corin |
A |
G |
5: 72,458,929 (GRCm39) |
V940A |
probably damaging |
Het |
Dlgap2 |
A |
T |
8: 14,777,525 (GRCm39) |
N257Y |
possibly damaging |
Het |
Dnah2 |
C |
A |
11: 69,349,314 (GRCm39) |
V2441L |
possibly damaging |
Het |
Evpl |
C |
T |
11: 116,112,438 (GRCm39) |
E1751K |
probably damaging |
Het |
Fat1 |
G |
A |
8: 45,403,623 (GRCm39) |
E125K |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,881,640 (GRCm39) |
|
probably benign |
Het |
Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
Grk5 |
T |
C |
19: 61,057,774 (GRCm39) |
F158S |
probably damaging |
Het |
Hmbox1 |
G |
T |
14: 65,125,048 (GRCm39) |
Q188K |
probably damaging |
Het |
Ift172 |
A |
T |
5: 31,429,348 (GRCm39) |
D604E |
probably benign |
Het |
Igkv6-32 |
T |
A |
6: 70,051,556 (GRCm39) |
T5S |
probably benign |
Het |
Impa1 |
A |
G |
3: 10,388,054 (GRCm39) |
Y123H |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,879,550 (GRCm39) |
T612M |
probably damaging |
Het |
Med12l |
T |
A |
3: 58,944,976 (GRCm39) |
|
probably null |
Het |
Meis2 |
A |
G |
2: 115,890,002 (GRCm39) |
L160S |
probably damaging |
Het |
Micu1 |
C |
T |
10: 59,563,870 (GRCm39) |
R31* |
probably null |
Het |
Nlrp9a |
G |
T |
7: 26,256,882 (GRCm39) |
A167S |
probably damaging |
Het |
Or10j27 |
A |
G |
1: 172,958,425 (GRCm39) |
Y120H |
probably damaging |
Het |
Or4d10 |
A |
T |
19: 12,051,392 (GRCm39) |
N201K |
probably damaging |
Het |
Plpp6 |
A |
G |
19: 28,942,071 (GRCm39) |
N224S |
possibly damaging |
Het |
Sdk2 |
T |
A |
11: 113,741,810 (GRCm39) |
H803L |
probably benign |
Het |
Shld2 |
T |
C |
14: 33,967,143 (GRCm39) |
T690A |
probably benign |
Het |
Slc36a1 |
T |
A |
11: 55,119,017 (GRCm39) |
Y331N |
probably damaging |
Het |
Spata31d1c |
A |
T |
13: 65,183,009 (GRCm39) |
I184F |
possibly damaging |
Het |
Stat3 |
T |
C |
11: 100,793,582 (GRCm39) |
I338V |
possibly damaging |
Het |
Stk10 |
T |
A |
11: 32,554,143 (GRCm39) |
V610E |
possibly damaging |
Het |
Syna |
A |
G |
5: 134,587,144 (GRCm39) |
S602P |
probably benign |
Het |
Tap2 |
T |
A |
17: 34,424,399 (GRCm39) |
|
probably benign |
Het |
Tln1 |
T |
C |
4: 43,539,084 (GRCm39) |
|
probably benign |
Het |
Tra2b |
C |
A |
16: 22,073,303 (GRCm39) |
|
probably benign |
Het |
Ttc7b |
T |
C |
12: 100,339,968 (GRCm39) |
|
probably null |
Het |
Vmn2r121 |
G |
A |
X: 123,042,023 (GRCm39) |
T378I |
probably benign |
Het |
Wdr1 |
A |
T |
5: 38,690,825 (GRCm39) |
|
probably null |
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 |
IGL03195:G3bp2
|
APN |
5 |
92,216,367 (GRCm39) |
splice site |
probably benign |
|
IGL03385:G3bp2
|
APN |
5 |
92,216,254 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |