Incidental Mutation 'PIT4354001:Sos1'
ID 554836
Institutional Source Beutler Lab
Gene Symbol Sos1
Ensembl Gene ENSMUSG00000024241
Gene Name SOS Ras/Rac guanine nucleotide exchange factor 1
Synonyms 4430401P03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4354001 (G1)
Quality Score 152.008
Status Not validated
Chromosome 17
Chromosomal Location 80701181-80787882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80756785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 256 (S256G)
Ref Sequence ENSEMBL: ENSMUSP00000067786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068714]
AlphaFold Q62245
PDB Structure CRK SH3 DOMAIN COMPLEXED WITH PEPTOID INHIBITOR [X-RAY DIFFRACTION]
SOLUTION NMR STRUCTURE OF THE GRB2 N-TERMINAL SH3 DOMAIN COMPLEXED WITH A TEN-RESIDUE PEPTIDE DERIVED FROM SOS DIRECT REFINEMENT AGAINST NOES, J-COUPLINGS, AND 1H AND 13C CHEMICAL SHIFTS, MINIMIZED AVERAGE STRUCTURE [SOLUTION NMR]
PLECKSTRIN HOMOLOGY DOMAIN OF SON OF SEVENLESS 1 (SOS1) WITH GLYCINE-SERINE ADDED TO THE N-TERMINUS, NMR, 20 STRUCTURES [SOLUTION NMR]
SOLUTION NMR STRUCTURE OF THE GRB2 N-TERMINAL SH3 DOMAIN COMPLEXED WITH A TEN-RESIDUE PEPTIDE DERIVED FROM SOS DIRECT REFINEMENT AGAINST NOES, J-COUPLINGS, AND 1H AND 13C CHEMICAL SHIFTS, 15 STRUCTURES [SOLUTION NMR]
SOLUTION NMR STRUCTURE OF THE GRB2 N-TERMINAL SH3 DOMAIN COMPLEXED WITH A TEN-RESIDUE PEPTIDE DERIVED FROM SOS DIRECT REFINEMENT AGAINST NOES, J-COUPLINGS, AND 1H AND 13C CHEMICAL SHIFTS, MINIMIZED AVERAGE STRUCTURE [SOLUTION NMR]
SOLUTION NMR STRUCTURE OF THE GRB2 N-TERMINAL SH3 DOMAIN COMPLEXED WITH A TEN-RESIDUE PEPTIDE DERIVED FROM SOS DIRECT REFINEMENT AGAINST NOES, J-COUPLINGS, AND 1H AND 13C CHEMICAL SHIFTS, 15 STRUCTURES [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068714
AA Change: S256G

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000067786
Gene: ENSMUSG00000024241
AA Change: S256G

DomainStartEndE-ValueType
Pfam:Histone 40 169 6.8e-16 PFAM
RhoGEF 204 389 8.5e-35 SMART
PH 444 548 2.44e-17 SMART
RasGEFN 596 741 2.18e-56 SMART
RasGEF 776 1020 4.44e-102 SMART
low complexity region 1079 1093 N/A INTRINSIC
low complexity region 1116 1127 N/A INTRINSIC
low complexity region 1132 1154 N/A INTRINSIC
Blast:RasGEF 1155 1306 1e-51 BLAST
Coding Region Coverage
  • 1x: 92.5%
  • 3x: 90.1%
  • 10x: 83.2%
  • 20x: 69.0%
Validation Efficiency
MGI Phenotype 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

All alleles(25) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(21)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 A T 5: 62,811,392 (GRCm39) Y1140N probably damaging Het
Ccdc83 A T 7: 89,873,182 (GRCm39) M391K probably benign Het
Cntnap1 A T 11: 101,072,123 (GRCm39) I459F probably damaging Het
Cr2 T A 1: 194,848,617 (GRCm39) Y302F probably damaging Het
Ctu2 A T 8: 123,205,714 (GRCm39) D179V probably damaging Het
Cubn G A 2: 13,473,663 (GRCm39) Q427* probably null Het
Depdc7 A G 2: 104,558,533 (GRCm39) S163P probably benign Het
Eif2s3y C T Y: 1,020,126 (GRCm39) R385C probably benign Het
Gigyf1 A G 5: 137,522,366 (GRCm39) K728R unknown Het
Gm1587 G A 14: 78,034,473 (GRCm39) R32* probably null Het
Hjv T C 3: 96,435,761 (GRCm39) C340R probably damaging Het
Isy1 A G 6: 87,810,653 (GRCm39) I53T possibly damaging Het
Myh8 A T 11: 67,180,456 (GRCm39) N564I probably benign Het
Neb A T 2: 52,135,330 (GRCm39) I3260N probably damaging Het
Npc1 C T 18: 12,344,592 (GRCm39) G426E probably benign Het
Nrdc G A 4: 108,911,222 (GRCm39) probably null Het
Or2v1 G A 11: 49,025,132 (GRCm39) V38M probably damaging Het
Or4c10b T A 2: 89,711,852 (GRCm39) S227R probably benign Het
Or4c116 C A 2: 88,942,830 (GRCm39) E9* probably null Het
Pate8 T A 9: 36,492,597 (GRCm39) S103C possibly damaging Het
Prss51 T A 14: 64,334,546 (GRCm39) V91D probably damaging Het
Qpct A C 17: 79,389,188 (GRCm39) Y280S probably benign Het
Rbpms A G 8: 34,296,866 (GRCm39) V137A possibly damaging Het
Rgl2 T A 17: 34,152,914 (GRCm39) M441K possibly damaging Het
Sdhaf3 A T 6: 6,956,072 (GRCm39) I16F possibly damaging Het
Slc38a3 T G 9: 107,534,848 (GRCm39) N176H probably benign Het
Spg11 A T 2: 121,918,666 (GRCm39) C988S probably damaging Het
Sync A T 4: 129,200,447 (GRCm39) Q451L possibly damaging Het
Tbc1d31 A G 15: 57,831,329 (GRCm39) Y929C probably benign Het
Thbs2 G A 17: 14,910,230 (GRCm39) T123I probably damaging Het
Thsd7a A C 6: 12,331,926 (GRCm39) probably null Het
Tnfrsf11a T C 1: 105,749,242 (GRCm39) L220P probably damaging Het
Trbv13-2 G A 6: 41,098,752 (GRCm39) C109Y probably damaging Het
Ugt3a1 G A 15: 9,306,446 (GRCm39) W198* probably null Het
Usp14 G A 18: 9,996,189 (GRCm39) R464W probably damaging Het
Vmn1r2 C T 4: 3,172,162 (GRCm39) S27L probably benign Het
Vmn1r68 T A 7: 10,261,958 (GRCm39) N47Y probably benign Het
Zfc3h1 T A 10: 115,262,944 (GRCm39) Y1719* probably null Het
Other mutations in Sos1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:Sos1 APN 17 80,705,953 (GRCm39) missense possibly damaging 0.94
IGL00915:Sos1 APN 17 80,741,367 (GRCm39) missense probably benign 0.00
IGL00929:Sos1 APN 17 80,716,025 (GRCm39) missense probably damaging 1.00
IGL01073:Sos1 APN 17 80,730,176 (GRCm39) missense probably damaging 1.00
IGL01116:Sos1 APN 17 80,752,929 (GRCm39) missense probably damaging 1.00
IGL01533:Sos1 APN 17 80,722,511 (GRCm39) missense probably damaging 0.97
IGL01546:Sos1 APN 17 80,716,040 (GRCm39) missense probably damaging 1.00
IGL01583:Sos1 APN 17 80,741,329 (GRCm39) missense probably benign 0.11
IGL01628:Sos1 APN 17 80,730,106 (GRCm39) splice site probably benign
IGL01837:Sos1 APN 17 80,730,157 (GRCm39) missense probably damaging 1.00
IGL02170:Sos1 APN 17 80,705,719 (GRCm39) missense probably damaging 0.99
IGL02426:Sos1 APN 17 80,742,372 (GRCm39) missense possibly damaging 0.82
IGL02992:Sos1 APN 17 80,726,445 (GRCm39) missense probably benign 0.01
IGL03037:Sos1 APN 17 80,727,758 (GRCm39) missense probably damaging 0.98
1mM(1):Sos1 UTSW 17 80,762,486 (GRCm39) missense possibly damaging 0.46
BB007:Sos1 UTSW 17 80,714,267 (GRCm39) missense probably benign 0.00
BB017:Sos1 UTSW 17 80,714,267 (GRCm39) missense probably benign 0.00
R0056:Sos1 UTSW 17 80,721,050 (GRCm39) missense probably damaging 1.00
R0348:Sos1 UTSW 17 80,715,740 (GRCm39) missense probably benign
R0373:Sos1 UTSW 17 80,761,192 (GRCm39) missense probably damaging 1.00
R0477:Sos1 UTSW 17 80,742,363 (GRCm39) missense possibly damaging 0.92
R0621:Sos1 UTSW 17 80,759,408 (GRCm39) critical splice donor site probably null
R0839:Sos1 UTSW 17 80,741,159 (GRCm39) missense probably damaging 1.00
R1174:Sos1 UTSW 17 80,753,037 (GRCm39) nonsense probably null
R1490:Sos1 UTSW 17 80,721,104 (GRCm39) missense probably benign 0.11
R1566:Sos1 UTSW 17 80,761,345 (GRCm39) missense probably damaging 0.99
R1635:Sos1 UTSW 17 80,730,108 (GRCm39) splice site probably null
R3412:Sos1 UTSW 17 80,714,146 (GRCm39) missense probably benign
R3770:Sos1 UTSW 17 80,705,737 (GRCm39) missense probably damaging 0.97
R3951:Sos1 UTSW 17 80,731,610 (GRCm39) missense probably damaging 1.00
R3964:Sos1 UTSW 17 80,762,608 (GRCm39) missense probably damaging 1.00
R3966:Sos1 UTSW 17 80,762,608 (GRCm39) missense probably damaging 1.00
R4086:Sos1 UTSW 17 80,756,781 (GRCm39) missense probably benign 0.06
R4087:Sos1 UTSW 17 80,756,781 (GRCm39) missense probably benign 0.06
R4089:Sos1 UTSW 17 80,756,781 (GRCm39) missense probably benign 0.06
R4194:Sos1 UTSW 17 80,706,013 (GRCm39) missense probably benign 0.02
R4468:Sos1 UTSW 17 80,761,240 (GRCm39) missense probably damaging 1.00
R4469:Sos1 UTSW 17 80,761,240 (GRCm39) missense probably damaging 1.00
R4597:Sos1 UTSW 17 80,741,255 (GRCm39) missense probably benign 0.05
R4773:Sos1 UTSW 17 80,705,660 (GRCm39) missense probably damaging 0.99
R4923:Sos1 UTSW 17 80,742,381 (GRCm39) missense probably benign 0.10
R5120:Sos1 UTSW 17 80,715,677 (GRCm39) missense probably damaging 0.98
R5478:Sos1 UTSW 17 80,741,276 (GRCm39) missense probably damaging 1.00
R5566:Sos1 UTSW 17 80,761,319 (GRCm39) missense possibly damaging 0.91
R5984:Sos1 UTSW 17 80,759,561 (GRCm39) missense possibly damaging 0.68
R6053:Sos1 UTSW 17 80,722,463 (GRCm39) missense possibly damaging 0.94
R6153:Sos1 UTSW 17 80,756,764 (GRCm39) missense probably benign 0.01
R6567:Sos1 UTSW 17 80,740,932 (GRCm39) missense probably damaging 1.00
R7392:Sos1 UTSW 17 80,731,629 (GRCm39) missense probably damaging 1.00
R7623:Sos1 UTSW 17 80,787,323 (GRCm39) missense probably benign 0.28
R7763:Sos1 UTSW 17 80,721,142 (GRCm39) missense probably benign
R7930:Sos1 UTSW 17 80,714,267 (GRCm39) missense probably benign 0.00
R8132:Sos1 UTSW 17 80,716,031 (GRCm39) missense probably damaging 1.00
R8236:Sos1 UTSW 17 80,715,712 (GRCm39) missense probably benign 0.41
R8322:Sos1 UTSW 17 80,715,728 (GRCm39) missense probably damaging 0.96
R8348:Sos1 UTSW 17 80,741,548 (GRCm39) missense probably benign 0.00
R8448:Sos1 UTSW 17 80,741,548 (GRCm39) missense probably benign 0.00
R8554:Sos1 UTSW 17 80,705,842 (GRCm39) missense probably damaging 0.99
R8850:Sos1 UTSW 17 80,741,405 (GRCm39) missense probably damaging 1.00
R8966:Sos1 UTSW 17 80,705,879 (GRCm39) missense possibly damaging 0.87
R9051:Sos1 UTSW 17 80,715,723 (GRCm39) missense probably benign
R9355:Sos1 UTSW 17 80,722,479 (GRCm39) missense possibly damaging 0.71
R9378:Sos1 UTSW 17 80,761,239 (GRCm39) missense probably damaging 1.00
R9576:Sos1 UTSW 17 80,742,367 (GRCm39) missense probably benign 0.11
X0020:Sos1 UTSW 17 80,756,706 (GRCm39) missense probably damaging 1.00
Z1177:Sos1 UTSW 17 80,761,347 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GCTGGAAATAGGAATTATGAACCCC -3'
(R):5'- GCCATCCTTATTCCCAGAAAGC -3'

Sequencing Primer
(F):5'- GAACCCCATTTTAATGCCAATGTAC -3'
(R):5'- TGTTCTCCAGCCACAACAGACTG -3'
Posted On 2019-06-07