Incidental Mutation 'IGL00687:G3bp2'
| ID | 10862 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
G3bp2
|
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| Ensembl Gene |
ENSMUSG00000029405 |
|---|
| Gene Name | GTPase activating protein (SH3 domain) binding protein 2 |
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| Synonyms | G3BP, E430034L04Rik, G3BP2 |
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| Accession Numbers | |
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| Is this an essential gene? |
Essential (E-score: 1.000)
|
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| Stock # | IGL00687
|
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| Quality Score | |
|---|
| Status |
|
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| Chromosome | 5 |
|---|
| Chromosomal Location | 92052146-92083719 bp(-) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to C
at 92065848 bp
|
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| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Glutamic Acid to Glycine
at position 150
(E150G)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000144456
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113127]
[ENSMUST00000164378]
[ENSMUST00000167918]
[ENSMUST00000169094]
[ENSMUST00000201820]
[ENSMUST00000202123]
[ENSMUST00000202258]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113127
AA Change: E150G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000108752
Gene: ENSMUSG00000029405
AA Change: E150G
| 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: ENSMUST00000164378
AA Change: E150G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000128353
Gene: ENSMUSG00000029405
AA Change: E150G
| 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: E150G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000132469
Gene: ENSMUSG00000029405
AA Change: E150G
| 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: E150G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000128244
Gene: ENSMUSG00000029405
AA Change: E150G
| 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
|
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| 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 |
noncoding transcript
Transcript: ENSMUST00000202125
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202258
AA Change: E150G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000144456
Gene: ENSMUSG00000029405
AA Change: E150G
| 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
|
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| Coding Region Coverage |
|
|---|
| Validation Efficiency |
|
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| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0a1 |
T |
A |
11: 101,030,505 |
|
probably null |
Het |
| Cpb2 |
A |
G |
14: 75,275,093 |
I315M |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 117,922,004 |
|
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,310,068 |
E157G |
probably benign |
Het |
| Ms4a4c |
T |
C |
19: 11,421,318 |
S167P |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,524,070 |
N1273S |
probably benign |
Het |
| Rap1gap2 |
T |
A |
11: 74,416,259 |
D337V |
probably benign |
Het |
| Slc35f3 |
T |
C |
8: 126,382,164 |
F151L |
probably benign |
Het |
| Unc5d |
A |
T |
8: 28,715,813 |
|
probably benign |
Het |
| Zfp711 |
G |
A |
X: 112,624,811 |
R284Q |
probably damaging |
Het |
|
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| Other mutations in G3bp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02124:G3bp2
|
APN |
5 |
92073247 |
missense |
possibly damaging |
0.92 |
|
IGL02519:G3bp2
|
APN |
5 |
92066524 |
missense |
possibly damaging |
0.90 |
|
IGL03146:G3bp2
|
APN |
5 |
92066540 |
missense |
probably damaging |
1.00 |
|
IGL03183:G3bp2
|
APN |
5 |
92055046 |
missense |
possibly damaging |
0.82 |
|
IGL03195:G3bp2
|
APN |
5 |
92068508 |
splice site |
probably benign |
|
|
IGL03385:G3bp2
|
APN |
5 |
92068395 |
missense |
probably damaging |
1.00 |
|
R0558:G3bp2
|
UTSW |
5 |
92073197 |
missense |
probably damaging |
1.00 |
|
R1067:G3bp2
|
UTSW |
5 |
92063328 |
splice site |
probably benign |
|
|
R1621:G3bp2
|
UTSW |
5 |
92056278 |
missense |
probably damaging |
1.00 |
|
R2294:G3bp2
|
UTSW |
5 |
92058028 |
missense |
probably damaging |
1.00 |
|
R3698:G3bp2
|
UTSW |
5 |
92056280 |
missense |
possibly damaging |
0.91 |
|
R4159:G3bp2
|
UTSW |
5 |
92064401 |
missense |
probably benign |
0.00 |
|
R4195:G3bp2
|
UTSW |
5 |
92055416 |
missense |
probably damaging |
0.99 |
|
R4754:G3bp2
|
UTSW |
5 |
92054909 |
missense |
possibly damaging |
0.85 |
|
R5518:G3bp2
|
UTSW |
5 |
92068488 |
missense |
probably benign |
0.00 |
|
R5680:G3bp2
|
UTSW |
5 |
92068360 |
missense |
probably damaging |
1.00 |
|
R5937:G3bp2
|
UTSW |
5 |
92055397 |
missense |
probably damaging |
1.00 |
|
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| Posted On | 2012-12-06 |
|---|
