Incidental Mutation 'R0311:G3bp1'
| ID |
65240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
G3bp1
|
| Ensembl Gene |
ENSMUSG00000018583 |
| Gene Name |
G3BP stress granule assembly factor 1 |
| Synonyms |
GAP SH3 binding protein |
| MMRRC Submission |
038521-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0311 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
55360521-55391722 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55389452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 383
(F383L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018727]
|
| AlphaFold |
P97855 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018727
AA Change: F383L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018727
Gene: ENSMUSG00000018583
AA Change: F383L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
133 |
5.8e-35 |
PFAM |
|
low complexity region
|
142 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
305 |
N/A |
INTRINSIC |
|
RRM
|
339 |
409 |
1.49e-13 |
SMART |
|
low complexity region
|
419 |
447 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185156
|
| Meta Mutation Damage Score |
0.8237 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.6%
- 20x: 91.6%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display perinatal lethality with severe cell death in the nervous system and decreased cell proliferation. Neonates from heterozygous null female mice display increased mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
C |
7: 120,002,127 (GRCm39) |
M1547L |
probably damaging |
Het |
| Abcb4 |
A |
G |
5: 8,984,243 (GRCm39) |
K658E |
probably benign |
Het |
| Abr |
A |
G |
11: 76,399,953 (GRCm39) |
S15P |
possibly damaging |
Het |
| Adgrb2 |
G |
C |
4: 129,910,922 (GRCm39) |
A1168P |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,109,010 (GRCm39) |
E339V |
probably benign |
Het |
| Asprv1 |
T |
C |
6: 86,605,822 (GRCm39) |
W223R |
probably damaging |
Het |
| Ccdc89 |
A |
G |
7: 90,075,901 (GRCm39) |
E37G |
probably damaging |
Het |
| Cd48 |
C |
A |
1: 171,527,148 (GRCm39) |
Y191* |
probably null |
Het |
| Chd4 |
T |
C |
6: 125,078,628 (GRCm39) |
I257T |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,638,257 (GRCm39) |
M2V |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,090,868 (GRCm39) |
D1025E |
probably benign |
Het |
| Erich5 |
A |
G |
15: 34,473,085 (GRCm39) |
*363W |
probably null |
Het |
| Etl4 |
A |
G |
2: 20,811,940 (GRCm39) |
D1341G |
probably damaging |
Het |
| Fbxw11 |
A |
G |
11: 32,672,083 (GRCm39) |
T184A |
probably benign |
Het |
| Fktn |
A |
G |
4: 53,744,620 (GRCm39) |
Q300R |
probably benign |
Het |
| Gdpd3 |
G |
A |
7: 126,366,361 (GRCm39) |
R66Q |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,320,327 (GRCm39) |
|
probably benign |
Het |
| Kdm4b |
A |
G |
17: 56,693,200 (GRCm39) |
R346G |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,812,183 (GRCm39) |
|
probably null |
Het |
| Med23 |
T |
A |
10: 24,773,256 (GRCm39) |
C653S |
possibly damaging |
Het |
| Nwd2 |
A |
T |
5: 63,962,341 (GRCm39) |
I642L |
probably damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,460 (GRCm39) |
Y71F |
possibly damaging |
Het |
| Or5b21 |
A |
G |
19: 12,839,233 (GRCm39) |
I31M |
probably benign |
Het |
| Or8b48 |
T |
C |
9: 38,450,593 (GRCm39) |
V134A |
probably benign |
Het |
| Pbld2 |
T |
C |
10: 62,890,286 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
| Plpp2 |
C |
T |
10: 79,363,414 (GRCm39) |
R77K |
probably damaging |
Het |
| Pym1 |
G |
T |
10: 128,601,853 (GRCm39) |
R168L |
possibly damaging |
Het |
| Rbm4 |
T |
C |
19: 4,837,584 (GRCm39) |
Y300C |
probably damaging |
Het |
| Rnf207 |
A |
G |
4: 152,400,236 (GRCm39) |
C175R |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
C |
1: 75,407,581 (GRCm39) |
V3196A |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,298,943 (GRCm39) |
I1048L |
possibly damaging |
Het |
| Th |
T |
C |
7: 142,449,778 (GRCm39) |
E41G |
probably damaging |
Het |
| Tmx4 |
T |
A |
2: 134,440,446 (GRCm39) |
*336L |
probably null |
Het |
| Tnfrsf18 |
T |
C |
4: 156,110,872 (GRCm39) |
V10A |
possibly damaging |
Het |
| Tnxb |
A |
T |
17: 34,935,958 (GRCm39) |
I2670F |
probably damaging |
Het |
| Tpx2 |
T |
C |
2: 152,732,412 (GRCm39) |
V562A |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,520,997 (GRCm39) |
S324P |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,127,846 (GRCm39) |
Y890H |
probably benign |
Het |
| Ythdc1 |
G |
A |
5: 86,983,564 (GRCm39) |
D670N |
probably damaging |
Het |
|
| Other mutations in G3bp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02231:G3bp1
|
APN |
11 |
55,386,273 (GRCm39) |
nonsense |
probably null |
|
|
silverheels
|
UTSW |
11 |
55,379,942 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0056:G3bp1
|
UTSW |
11 |
55,388,867 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0113:G3bp1
|
UTSW |
11 |
55,386,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:G3bp1
|
UTSW |
11 |
55,382,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:G3bp1
|
UTSW |
11 |
55,382,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0312:G3bp1
|
UTSW |
11 |
55,389,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0367:G3bp1
|
UTSW |
11 |
55,389,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0368:G3bp1
|
UTSW |
11 |
55,389,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:G3bp1
|
UTSW |
11 |
55,389,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0464:G3bp1
|
UTSW |
11 |
55,389,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0465:G3bp1
|
UTSW |
11 |
55,389,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0466:G3bp1
|
UTSW |
11 |
55,389,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0467:G3bp1
|
UTSW |
11 |
55,389,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0486:G3bp1
|
UTSW |
11 |
55,389,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0487:G3bp1
|
UTSW |
11 |
55,389,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:G3bp1
|
UTSW |
11 |
55,389,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:G3bp1
|
UTSW |
11 |
55,379,969 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0689:G3bp1
|
UTSW |
11 |
55,389,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0848:G3bp1
|
UTSW |
11 |
55,389,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2109:G3bp1
|
UTSW |
11 |
55,379,986 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5129:G3bp1
|
UTSW |
11 |
55,379,942 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5439:G3bp1
|
UTSW |
11 |
55,388,813 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5834:G3bp1
|
UTSW |
11 |
55,388,766 (GRCm39) |
missense |
probably benign |
|
|
R6692:G3bp1
|
UTSW |
11 |
55,384,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6925:G3bp1
|
UTSW |
11 |
55,388,786 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7091:G3bp1
|
UTSW |
11 |
55,387,047 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8348:G3bp1
|
UTSW |
11 |
55,389,457 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9375:G3bp1
|
UTSW |
11 |
55,390,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
|
| Posted On |
2013-08-08 |
Incidental Mutation