Incidental Mutation 'IGL03195:G3bp2'
ID |
412798 |
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 # |
IGL03195
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
92200005-92231578 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 92216367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 benign
Transcript: ENSMUST00000113127
|
SMART Domains |
Protein: ENSMUSP00000108752 Gene: ENSMUSG00000029405
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 benign
Transcript: ENSMUST00000164378
|
SMART Domains |
Protein: ENSMUSP00000128353 Gene: ENSMUSG00000029405
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 benign
Transcript: ENSMUST00000167918
|
SMART Domains |
Protein: ENSMUSP00000132469 Gene: ENSMUSG00000029405
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 benign
Transcript: ENSMUST00000169094
|
SMART Domains |
Protein: ENSMUSP00000128244 Gene: ENSMUSG00000029405
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 benign
Transcript: ENSMUST00000201820
|
SMART Domains |
Protein: ENSMUSP00000144404 Gene: ENSMUSG00000029405
Domain | Start | End | E-Value | Type |
Pfam:NTF2
|
11 |
117 |
9.5e-28 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201824
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202123
|
SMART Domains |
Protein: ENSMUSP00000143804 Gene: ENSMUSG00000029405
Domain | Start | End | E-Value | Type |
Pfam:NTF2
|
11 |
133 |
5.2e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202258
|
SMART Domains |
Protein: ENSMUSP00000144456 Gene: ENSMUSG00000029405
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
G |
5: 8,903,607 (GRCm39) |
D1086G |
possibly damaging |
Het |
Ahcyl2 |
T |
C |
6: 29,906,768 (GRCm39) |
|
probably benign |
Het |
Ankrd42 |
T |
A |
7: 92,241,066 (GRCm39) |
Q431L |
probably benign |
Het |
Arhgap12 |
A |
T |
18: 6,031,766 (GRCm39) |
F592I |
probably damaging |
Het |
Arhgef28 |
A |
G |
13: 98,088,071 (GRCm39) |
|
probably null |
Het |
Boc |
A |
G |
16: 44,313,184 (GRCm39) |
F560S |
probably damaging |
Het |
Ccdc81 |
A |
T |
7: 89,545,916 (GRCm39) |
V96E |
probably benign |
Het |
Cep162 |
C |
T |
9: 87,107,839 (GRCm39) |
S517N |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 116,085,178 (GRCm39) |
N372S |
probably benign |
Het |
Dnah7a |
G |
A |
1: 53,458,766 (GRCm39) |
R3791C |
probably damaging |
Het |
Fdxr |
T |
C |
11: 115,166,918 (GRCm39) |
Q57R |
probably benign |
Het |
Fsip2l |
T |
A |
X: 47,961,825 (GRCm39) |
Q296L |
possibly damaging |
Het |
Hmcn1 |
G |
A |
1: 150,678,660 (GRCm39) |
T487I |
probably benign |
Het |
Kpna7 |
A |
T |
5: 144,933,847 (GRCm39) |
I282N |
probably damaging |
Het |
Lif |
A |
T |
11: 4,219,201 (GRCm39) |
Y160F |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 41,361,134 (GRCm39) |
D556E |
possibly damaging |
Het |
Myom2 |
G |
T |
8: 15,161,844 (GRCm39) |
E954* |
probably null |
Het |
Nr6a1 |
A |
T |
2: 38,632,948 (GRCm39) |
I171N |
probably damaging |
Het |
Nup210 |
C |
A |
6: 90,992,832 (GRCm39) |
R1059L |
probably benign |
Het |
Or11g27 |
A |
G |
14: 50,770,877 (GRCm39) |
T3A |
probably benign |
Het |
Or2ag16 |
A |
G |
7: 106,351,980 (GRCm39) |
I205T |
probably benign |
Het |
Or2w25 |
G |
A |
11: 59,504,629 (GRCm39) |
V280M |
probably damaging |
Het |
Or5ak4 |
A |
T |
2: 85,161,864 (GRCm39) |
I126N |
probably damaging |
Het |
Or5aq6 |
A |
T |
2: 86,922,913 (GRCm39) |
V276E |
probably damaging |
Het |
Ostm1 |
T |
C |
10: 42,574,213 (GRCm39) |
V302A |
probably damaging |
Het |
Oxct1 |
A |
G |
15: 4,130,671 (GRCm39) |
M388V |
possibly damaging |
Het |
Ppp6r2 |
G |
A |
15: 89,152,758 (GRCm39) |
V300I |
possibly damaging |
Het |
Prmt1 |
T |
C |
7: 44,626,995 (GRCm39) |
Y205C |
probably damaging |
Het |
Slc45a4 |
A |
C |
15: 73,456,272 (GRCm39) |
V636G |
possibly damaging |
Het |
Spata18 |
T |
A |
5: 73,828,591 (GRCm39) |
L270Q |
probably damaging |
Het |
Stard9 |
G |
A |
2: 120,536,283 (GRCm39) |
D4151N |
probably damaging |
Het |
Thsd7b |
G |
A |
1: 129,556,646 (GRCm39) |
C334Y |
probably damaging |
Het |
Tmtc3 |
C |
T |
10: 100,294,896 (GRCm39) |
V406M |
probably benign |
Het |
Trpc5 |
T |
A |
X: 143,165,724 (GRCm39) |
M900L |
probably benign |
Het |
Ttc9c |
T |
C |
19: 8,793,344 (GRCm39) |
K99E |
probably benign |
Het |
Vmn1r73 |
A |
G |
7: 11,491,007 (GRCm39) |
E275G |
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 |
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 |