|Institutional Source||Beutler Lab|
|Gene Name||GTPase activating protein (SH3 domain) binding protein 1|
|Synonyms||GAP SH3 binding protein|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0486 (G1)|
|Chromosomal Location||55469685-55504838 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 55498626 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Leucine at position 383 (F383L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018727 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018727]|
AA Change: F383L
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: F383L
|Meta Mutation Damage Score||0.8237|
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
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||
|Other mutations in G3bp1||
(F):5'- TGAGACACAATGCCTTGCCCAC -3'
(R):5'- TCCGAGCTGGAAAATGACACTCAAC -3'
(F):5'- CATCTAAGGAGCTTATCATTGAACTC -3'
(R):5'- acaataggtaactccatgtccag -3'