Incidental Mutation 'R4195:G3bp2'
| ID |
318532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
G3bp2
|
| Ensembl Gene |
ENSMUSG00000029405 |
| Gene Name |
G3BP stress granule assembly factor 2 |
| Synonyms |
G3BP, E430034L04Rik, G3BP2 |
| MMRRC Submission |
041026-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92200005-92231578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92203275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 349
(S349P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113127]
[ENSMUST00000164378]
[ENSMUST00000167918]
[ENSMUST00000169094]
[ENSMUST00000202258]
|
| AlphaFold |
P97379 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113127
AA Change: S349P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108752
Gene: ENSMUSG00000029405
AA Change: S349P
| 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 benign
Transcript: ENSMUST00000164378
AA Change: S382P
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000128353
Gene: ENSMUSG00000029405
AA Change: S382P
| 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: S349P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132469
Gene: ENSMUSG00000029405
AA Change: S349P
| 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: S382P
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000128244
Gene: ENSMUSG00000029405
AA Change: S382P
| 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 benign
Transcript: ENSMUST00000202258
AA Change: S382P
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000144456
Gene: ENSMUSG00000029405
AA Change: S382P
| 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 |
0.2126 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
| Actg2 |
T |
G |
6: 83,500,155 (GRCm39) |
T39P |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,762,261 (GRCm39) |
E531G |
probably damaging |
Het |
| Alox12b |
A |
G |
11: 69,060,426 (GRCm39) |
S661G |
probably benign |
Het |
| Apod |
T |
C |
16: 31,116,392 (GRCm39) |
M113V |
probably benign |
Het |
| Atl3 |
A |
G |
19: 7,495,911 (GRCm39) |
I171V |
possibly damaging |
Het |
| Atrn |
C |
A |
2: 130,775,332 (GRCm39) |
T145K |
probably damaging |
Het |
| Cacna1f |
A |
G |
X: 7,475,169 (GRCm39) |
H57R |
probably damaging |
Het |
| Cdhr18 |
C |
A |
14: 13,829,772 (GRCm38) |
V657L |
probably benign |
Het |
| Cldn9 |
T |
C |
17: 23,902,148 (GRCm39) |
E159G |
probably damaging |
Het |
| Cnnm4 |
C |
A |
1: 36,538,589 (GRCm39) |
H590Q |
probably benign |
Het |
| Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
| Cse1l |
A |
G |
2: 166,771,899 (GRCm39) |
T387A |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
| Fbll1 |
A |
G |
11: 35,688,493 (GRCm39) |
S257P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
| Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6569 |
C |
T |
15: 73,708,092 (GRCm39) |
P22L |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,120,096 (GRCm39) |
N314D |
probably damaging |
Het |
| Lman2l |
A |
C |
1: 36,464,022 (GRCm39) |
I266M |
probably damaging |
Het |
| Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
T |
2: 52,161,571 (GRCm39) |
R2074S |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,180,847 (GRCm39) |
H1226Q |
probably damaging |
Het |
| Nmi |
A |
C |
2: 51,838,632 (GRCm39) |
S301A |
probably benign |
Het |
| Or11i1 |
A |
T |
3: 106,729,328 (GRCm39) |
C182* |
probably null |
Het |
| Pclo |
A |
G |
5: 14,727,577 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,019,327 (GRCm39) |
Y59H |
probably damaging |
Het |
| Slc30a4 |
G |
A |
2: 122,527,190 (GRCm39) |
T401M |
probably damaging |
Het |
| Tas1r3 |
T |
C |
4: 155,947,442 (GRCm39) |
E81G |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,547 (GRCm39) |
|
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,134,102 (GRCm39) |
T387A |
probably benign |
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 |
|
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'- GCCCTTCTCAGTTGAACAAATG -3'
(R):5'- AACATGACAGTTGCTCATTCTGAAC -3'
Sequencing Primer
(F):5'- GCAGACTGTGACACTATAGCTTC -3'
(R):5'- GCTCATTCTGAACAATTAAAGTCAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation