Incidental Mutation 'R4159:G3bp2'
| ID |
315653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
G3bp2
|
| Ensembl Gene |
ENSMUSG00000029405 |
| Gene Name |
G3BP stress granule assembly factor 2 |
| Synonyms |
G3BP, E430034L04Rik, G3BP2 |
| MMRRC Submission |
041002-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4159 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92200005-92231578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92212260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 217
(H217R)
|
| 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
AA Change: H217R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000108752
Gene: ENSMUSG00000029405
AA Change: H217R
| 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
AA Change: H217R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128353
Gene: ENSMUSG00000029405
AA Change: H217R
| 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
AA Change: H217R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000132469
Gene: ENSMUSG00000029405
AA Change: H217R
| 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
AA Change: H217R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128244
Gene: ENSMUSG00000029405
AA Change: H217R
| 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
AA Change: H217R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144456
Gene: ENSMUSG00000029405
AA Change: H217R
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (45/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
G |
12: 81,466,806 (GRCm39) |
D605A |
probably damaging |
Het |
| Adcy1 |
A |
G |
11: 7,013,889 (GRCm39) |
H97R |
probably damaging |
Het |
| Amdhd1 |
A |
G |
10: 93,370,512 (GRCm39) |
Y109H |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,722,593 (GRCm39) |
N372S |
possibly damaging |
Het |
| Aoc2 |
G |
A |
11: 101,216,122 (GRCm39) |
M68I |
probably damaging |
Het |
| Aspscr1 |
G |
A |
11: 120,599,502 (GRCm39) |
A377T |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 36,985,232 (GRCm39) |
M854K |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
| Cacnb1 |
G |
C |
11: 97,903,100 (GRCm39) |
C154W |
probably damaging |
Het |
| Ccdc186 |
G |
A |
19: 56,781,924 (GRCm39) |
R27* |
probably null |
Het |
| Clnk |
C |
A |
5: 38,899,138 (GRCm39) |
|
probably benign |
Het |
| Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
| Fut8 |
T |
C |
12: 77,440,523 (GRCm39) |
L170P |
probably damaging |
Het |
| Gm19345 |
G |
A |
7: 19,588,886 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Kcne4 |
A |
G |
1: 78,795,819 (GRCm39) |
N156D |
probably benign |
Het |
| Met |
G |
T |
6: 17,562,271 (GRCm39) |
|
probably null |
Het |
| Mfsd3 |
T |
C |
15: 76,585,945 (GRCm39) |
L26P |
probably damaging |
Het |
| Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
| Pde8a |
A |
G |
7: 80,970,407 (GRCm39) |
I510V |
probably benign |
Het |
| Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
| Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,748,162 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
A |
T |
6: 23,001,683 (GRCm39) |
K1258* |
probably null |
Het |
| Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
| Slc15a5 |
G |
T |
6: 138,049,938 (GRCm39) |
T159K |
possibly damaging |
Het |
| Slc39a6 |
A |
G |
18: 24,730,885 (GRCm39) |
V362A |
possibly damaging |
Het |
| Spef2 |
A |
T |
15: 9,676,407 (GRCm39) |
D721E |
probably damaging |
Het |
| Sting1 |
A |
T |
18: 35,872,272 (GRCm39) |
Y77N |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
| Ttll8 |
T |
C |
15: 88,801,444 (GRCm39) |
N415D |
probably benign |
Het |
| Ube2d2a |
A |
T |
18: 35,903,577 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,036,512 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,898,088 (GRCm39) |
C368S |
probably damaging |
Het |
| Vmn2r3 |
G |
A |
3: 64,194,850 (GRCm39) |
Q23* |
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 |
|
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 |
|
R3698:G3bp2
|
UTSW |
5 |
92,204,139 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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'- TCCTCAGAACAAGAACTCAAGTTTC -3'
(R):5'- ACAGTTTACCCACAGGAATGTAAC -3'
Sequencing Primer
(F):5'- GAAAATGTGAGGTCCCAG -3'
(R):5'- ACCCACAGGAATGTAACTAGTTTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation