Incidental Mutation 'R0368:G3bp1'
ID 65587
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 038574-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0368 (G1)
Quality Score 224
Status Not 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

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A T 19: 8,985,714 (GRCm39) K2333* probably null Het
Aox4 C T 1: 58,252,238 (GRCm39) L38F probably benign Het
Arhgef15 T C 11: 68,845,519 (GRCm39) E111G probably damaging Het
Atp8a2 A T 14: 60,097,661 (GRCm39) I789N probably damaging Het
Cdca2 A G 14: 67,937,796 (GRCm39) S286P possibly damaging Het
Chrnb1 T A 11: 69,675,583 (GRCm39) K457M probably damaging Het
Cimip2a T A 2: 25,110,685 (GRCm39) D164E probably benign Het
Clec2g A G 6: 128,957,224 (GRCm39) I61V possibly damaging Het
Cyb5r3 G A 15: 83,042,993 (GRCm39) A233V probably benign Het
Cyp4a10 T A 4: 115,382,574 (GRCm39) L278* probably null Het
Dnmt1 T C 9: 20,853,053 (GRCm39) E56G probably damaging Het
Fbln5 A G 12: 101,775,973 (GRCm39) probably null Het
Fhip2a A G 19: 57,357,010 (GRCm39) T34A possibly damaging Het
Gabrr3 A G 16: 59,260,959 (GRCm39) D289G probably damaging Het
Gpr45 T C 1: 43,072,176 (GRCm39) L273P probably damaging Het
Hkdc1 T C 10: 62,247,486 (GRCm39) E125G probably null Het
Il25 A G 14: 55,172,631 (GRCm39) probably null Het
Itfg1 A T 8: 86,491,036 (GRCm39) W298R probably damaging Het
Kank1 A T 19: 25,387,967 (GRCm39) K547* probably null Het
Lama5 G A 2: 179,823,023 (GRCm39) R2748* probably null Het
Lrp4 C T 2: 91,308,079 (GRCm39) T508I probably damaging Het
Map3k10 C T 7: 27,362,785 (GRCm39) V434I probably damaging Het
Map3k6 A G 4: 132,979,970 (GRCm39) M1265V probably benign Het
Mocs3 C T 2: 168,073,602 (GRCm39) P350S probably benign Het
Msh4 T A 3: 153,594,462 (GRCm39) Y113F probably damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Nrip1 A G 16: 76,090,904 (GRCm39) S218P probably damaging Het
Olig1 C T 16: 91,067,540 (GRCm39) S259F probably damaging Het
Or4k37 T C 2: 111,159,132 (GRCm39) Y123H probably damaging Het
Or4k41 T C 2: 111,280,133 (GRCm39) I216T probably benign Het
Osbpl9 A G 4: 108,924,129 (GRCm39) V499A probably damaging Het
Pafah2 T C 4: 134,149,802 (GRCm39) V371A probably benign Het
Pkp1 T A 1: 135,803,421 (GRCm39) M712L probably benign Het
Pkp1 T C 1: 135,814,590 (GRCm39) S244G probably benign Het
Ppp1r3a T C 6: 14,718,959 (GRCm39) T652A probably benign Het
Rab21 A T 10: 115,134,795 (GRCm39) V108E probably damaging Het
Rab5b C T 10: 128,518,772 (GRCm39) R120Q probably benign Het
Scd2 G A 19: 44,289,685 (GRCm39) V227I probably benign Het
Sema5b T A 16: 35,448,470 (GRCm39) V82E probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Slc13a2 A T 11: 78,295,626 (GRCm39) L80* probably null Het
Slc1a5 C T 7: 16,516,103 (GRCm39) P93L probably damaging Het
Slc35b2 T C 17: 45,877,389 (GRCm39) V172A probably benign Het
Slfn8 A G 11: 82,907,958 (GRCm39) L195P probably damaging Het
Smox G A 2: 131,364,078 (GRCm39) S320N probably damaging Het
Sptan1 T C 2: 29,883,927 (GRCm39) V589A probably benign Het
Stim2 G A 5: 54,267,482 (GRCm39) probably null Het
V1ra8 A G 6: 90,179,944 (GRCm39) D49G probably damaging Het
Vmn1r233 A T 17: 21,214,869 (GRCm39) V27D possibly damaging Het
Vmn2r98 A T 17: 19,286,089 (GRCm39) K196* probably null Het
Wdr77 T C 3: 105,869,382 (GRCm39) probably null Het
Other mutations in G3bp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0311:G3bp1 UTSW 11 55,389,452 (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
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