Incidental Mutation 'R3698:G3bp2'
ID |
269885 |
Institutional Source |
Beutler Lab
|
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 # |
R3698 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
92200005-92231578 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92204139 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 316
(E316G)
|
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: E316G
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000108752 Gene: ENSMUSG00000029405 AA Change: E316G
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: E349G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128353 Gene: ENSMUSG00000029405 AA Change: E349G
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: E316G
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132469 Gene: ENSMUSG00000029405 AA Change: E316G
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: E349G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128244 Gene: ENSMUSG00000029405 AA Change: E349G
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 |
possibly damaging
Transcript: ENSMUST00000202258
AA Change: E349G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144456 Gene: ENSMUSG00000029405 AA Change: E349G
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: ENSMUST00000201824
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202352
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l2 |
C |
A |
19: 56,904,955 (GRCm39) |
S549I |
possibly damaging |
Het |
Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
Arpc1a |
G |
T |
5: 145,033,001 (GRCm39) |
K103N |
probably damaging |
Het |
Btg3 |
A |
G |
16: 78,161,722 (GRCm39) |
S136P |
probably benign |
Het |
Ckap5 |
C |
A |
2: 91,450,511 (GRCm39) |
T2014K |
probably benign |
Het |
Dennd10 |
A |
G |
19: 60,821,054 (GRCm39) |
|
probably null |
Het |
Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
Ipo13 |
A |
G |
4: 117,757,890 (GRCm39) |
L767P |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Klhl13 |
G |
A |
X: 23,114,422 (GRCm39) |
T94I |
probably benign |
Het |
Morc2a |
A |
T |
11: 3,629,672 (GRCm39) |
K364* |
probably null |
Het |
Nat8f2 |
T |
A |
6: 85,844,778 (GRCm39) |
T195S |
probably benign |
Het |
Nckipsd |
G |
A |
9: 108,688,320 (GRCm39) |
G83S |
probably damaging |
Het |
Nfu1 |
A |
G |
6: 86,992,634 (GRCm39) |
T83A |
probably damaging |
Het |
Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
Or5w15 |
T |
C |
2: 87,568,360 (GRCm39) |
T103A |
probably benign |
Het |
Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
Slc13a4 |
T |
A |
6: 35,251,892 (GRCm39) |
I467F |
probably benign |
Het |
Stat2 |
T |
A |
10: 128,114,662 (GRCm39) |
L253Q |
probably benign |
Het |
Tnxb |
G |
T |
17: 34,909,407 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
T |
2: 76,564,595 (GRCm39) |
R28514H |
probably damaging |
Het |
Usp15 |
T |
C |
10: 123,017,643 (GRCm39) |
D51G |
probably damaging |
Het |
Uvrag |
T |
C |
7: 98,589,150 (GRCm39) |
E417G |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTCCTGTTGTCCACTTGG -3'
(R):5'- TATGTACCACTCTGCCTGGCTG -3'
Sequencing Primer
(F):5'- TCCACTTGGACAGGACACC -3'
(R):5'- CCTGGCTGGCACTAATACTG -3'
|
Posted On |
2015-03-18 |