Incidental Mutation 'R5937:G3bp2'
ID |
462317 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
G3bp2
|
Ensembl Gene |
ENSMUSG00000029405 |
Gene Name |
G3BP stress granule assembly factor 2 |
Synonyms |
G3BP, E430034L04Rik, G3BP2 |
MMRRC Submission |
043242-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5937 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
92200005-92231578 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92203256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 388
(I388T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144456
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113127]
[ENSMUST00000164378]
[ENSMUST00000167918]
[ENSMUST00000169094]
[ENSMUST00000202258]
|
AlphaFold |
P97379 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113127
AA Change: I355T
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108752 Gene: ENSMUSG00000029405 AA Change: I355T
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 |
probably damaging
Transcript: ENSMUST00000164378
AA Change: I388T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000128353 Gene: ENSMUSG00000029405 AA Change: I388T
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: I355T
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000132469 Gene: ENSMUSG00000029405 AA Change: I355T
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: I388T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000128244 Gene: ENSMUSG00000029405 AA Change: I388T
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 |
probably damaging
Transcript: ENSMUST00000202258
AA Change: I388T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000144456 Gene: ENSMUSG00000029405 AA Change: I388T
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 |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
A |
T |
15: 60,791,495 (GRCm39) |
W314R |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,255,194 (GRCm39) |
V6143E |
probably damaging |
Het |
Agap3 |
C |
T |
5: 24,682,815 (GRCm39) |
T261I |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,811,838 (GRCm39) |
I241T |
probably damaging |
Het |
Arhgef28 |
T |
C |
13: 98,076,051 (GRCm39) |
T1328A |
probably benign |
Het |
Capn10 |
C |
T |
1: 92,867,105 (GRCm39) |
R112W |
probably damaging |
Het |
Car5a |
A |
T |
8: 122,666,560 (GRCm39) |
W46R |
probably damaging |
Het |
Cntn6 |
C |
A |
6: 104,810,064 (GRCm39) |
T582K |
possibly damaging |
Het |
Ctsh |
T |
C |
9: 89,943,509 (GRCm39) |
V60A |
probably benign |
Het |
Ctsll3 |
A |
G |
13: 60,947,410 (GRCm39) |
F259L |
probably damaging |
Het |
Dennd2b |
A |
T |
7: 109,156,478 (GRCm39) |
C91S |
possibly damaging |
Het |
Fam228a |
T |
C |
12: 4,787,725 (GRCm39) |
E16G |
probably damaging |
Het |
Galnt5 |
A |
T |
2: 57,928,949 (GRCm39) |
K926N |
probably benign |
Het |
Gm10097 |
G |
A |
10: 5,019,485 (GRCm39) |
|
probably benign |
Het |
Gm9978 |
T |
A |
10: 78,322,675 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
A |
G |
11: 57,080,559 (GRCm39) |
T112A |
probably benign |
Het |
Hnrnpk |
A |
C |
13: 58,543,016 (GRCm39) |
V134G |
probably damaging |
Het |
Insr |
A |
G |
8: 3,224,808 (GRCm39) |
V220A |
probably benign |
Het |
Lhx4 |
A |
G |
1: 155,586,023 (GRCm39) |
I96T |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,419,745 (GRCm39) |
T955A |
possibly damaging |
Het |
Lrtm1 |
T |
C |
14: 28,743,787 (GRCm39) |
V85A |
possibly damaging |
Het |
Man2a2 |
T |
C |
7: 80,013,251 (GRCm39) |
Y514C |
probably damaging |
Het |
Npas1 |
T |
A |
7: 16,197,187 (GRCm39) |
D226V |
probably benign |
Het |
Nrcam |
G |
A |
12: 44,619,074 (GRCm39) |
V858I |
probably benign |
Het |
Or14c40 |
G |
T |
7: 86,313,684 (GRCm39) |
L271F |
probably benign |
Het |
Or5b108 |
T |
A |
19: 13,168,675 (GRCm39) |
S215T |
probably damaging |
Het |
Pde6b |
G |
T |
5: 108,572,193 (GRCm39) |
A478S |
probably benign |
Het |
Pex1 |
T |
A |
5: 3,674,487 (GRCm39) |
N789K |
possibly damaging |
Het |
Plekha6 |
A |
G |
1: 133,187,839 (GRCm39) |
D120G |
possibly damaging |
Het |
Pomgnt1 |
A |
G |
4: 116,011,110 (GRCm39) |
T220A |
probably benign |
Het |
Sdr39u1 |
A |
T |
14: 56,135,364 (GRCm39) |
I193K |
probably damaging |
Het |
Sec61a2 |
C |
A |
2: 5,891,368 (GRCm39) |
M54I |
probably benign |
Het |
Sema5a |
A |
G |
15: 32,574,987 (GRCm39) |
Y365C |
probably damaging |
Het |
Sra1 |
C |
T |
18: 36,804,652 (GRCm39) |
|
probably null |
Het |
Taf5 |
C |
T |
19: 47,070,334 (GRCm39) |
S640L |
probably damaging |
Het |
Tas2r140 |
T |
A |
6: 133,032,236 (GRCm39) |
H174L |
probably benign |
Het |
Tmem63a |
T |
A |
1: 180,788,716 (GRCm39) |
V351D |
probably damaging |
Het |
Ttll7 |
C |
T |
3: 146,649,847 (GRCm39) |
Q626* |
probably null |
Het |
Ubn2 |
T |
A |
6: 38,440,917 (GRCm39) |
V263E |
possibly damaging |
Het |
Vmn2r106 |
C |
T |
17: 20,505,667 (GRCm39) |
W9* |
probably null |
Het |
Xrcc3 |
C |
G |
12: 111,774,406 (GRCm39) |
C141S |
probably null |
Het |
Zfp516 |
T |
A |
18: 82,974,958 (GRCm39) |
D385E |
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 |
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 |
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'- GCCCTTCTCAGTTGAACAAATG -3'
(R):5'- AGAAACATGACAGTTGCTCATTCTG -3'
Sequencing Primer
(F):5'- GTTGAACAAATGATCCATACAGCAG -3'
(R):5'- GCTCATTCTGAACAATTAAAGTCAC -3'
|
Posted On |
2017-02-28 |