|Institutional Source||Beutler Lab|
|Gene Name||SOS Ras/Rac guanine nucleotide exchange factor 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3964 (G1)|
|Chromosomal Location||80393752-80480453 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 80455179 bp|
|Amino Acid Change||Arginine to Histidine at position 73 (R73H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000067786 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068714]|
|Predicted Effect||probably damaging
AA Change: R73H
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: R73H
|Meta Mutation Damage Score||0.1044|
|Coding Region Coverage||
|Validation Efficiency||98% (64/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutant embryos exhibit placental and cardiovascular defects resulting in death around mid-gestation. When heterozygous, these mutations enhance the eye defects of homozygous mutants of the epidermal growth factor receptor gene. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sos1||
(F):5'- TGAAACCACGTTGTCCAACC -3'
(R):5'- AAACTGTCCTTAGTCCCTTAGTGAC -3'
(F):5'- TTACCTCAACATGAATCCCTGG -3'
(R):5'- GTCCTTAGTCCCTTAGTGACCTAAC -3'