Incidental Mutation 'R8348:Sos1'
ID 645399
Institutional Source Beutler Lab
Gene Symbol Sos1
Ensembl Gene ENSMUSG00000024241
Gene Name SOS Ras/Rac guanine nucleotide exchange factor 1
Synonyms 4430401P03Rik
MMRRC Submission 067732-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8348 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 80701181-80787882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 80741548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 412 (M412I)
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 probably benign
Transcript: ENSMUST00000068714
AA Change: M412I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000067786
Gene: ENSMUSG00000024241
AA Change: M412I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,461,022 (GRCm39) probably null Het
Adamts6 T A 13: 104,616,027 (GRCm39) C1030S probably damaging Het
Adamtsl3 C A 7: 82,253,007 (GRCm39) T1527K possibly damaging Het
Akap9 G A 5: 3,998,897 (GRCm39) probably null Het
Ankle2 C A 5: 110,389,909 (GRCm39) P457T possibly damaging Het
Ankrd7 A G 6: 18,868,007 (GRCm39) N91S probably damaging Het
Ascc3 C A 10: 50,494,173 (GRCm39) Q203K probably benign Het
Baz2b A T 2: 59,742,137 (GRCm39) D61E Het
Bmpr1a T A 14: 34,136,759 (GRCm39) K477N probably benign Het
Cacna1d T C 14: 29,824,364 (GRCm39) I1040V probably damaging Het
Castor2 T C 5: 134,166,955 (GRCm39) F304L possibly damaging Het
Cdkn2a C A 4: 89,200,291 (GRCm39) V20L possibly damaging Het
Chd5 A G 4: 152,445,173 (GRCm39) S385G probably damaging Het
Cntrob A G 11: 69,190,679 (GRCm39) F46L unknown Het
Cth T C 3: 157,630,657 (GRCm39) D4G probably benign Het
Cyld C T 8: 89,456,197 (GRCm39) H416Y probably damaging Het
Dennd6a C A 14: 26,328,098 (GRCm39) H264Q possibly damaging Het
Dnah1 T C 14: 31,015,682 (GRCm39) Y1672C probably damaging Het
Dnah8 A G 17: 30,892,814 (GRCm39) I800V probably benign Het
Esrp2 A G 8: 106,858,853 (GRCm39) Y595H probably damaging Het
F12 T A 13: 55,566,301 (GRCm39) Y497F probably benign Het
Fggy A G 4: 95,732,427 (GRCm39) T473A probably benign Het
Garre1 A T 7: 33,984,569 (GRCm39) L18Q probably damaging Het
Gm21103 C A 14: 17,482,861 (GRCm39) R180L probably benign Het
Gstt2 C A 10: 75,668,526 (GRCm39) R107L probably damaging Het
Hectd4 A T 5: 121,358,319 (GRCm39) probably benign Het
Helb A G 10: 119,938,791 (GRCm39) F561S probably damaging Het
Ints2 T C 11: 86,146,249 (GRCm39) T120A probably benign Het
Kdm5d G A Y: 914,056 (GRCm39) R331H probably benign Het
Krt6b A G 15: 101,586,455 (GRCm39) Y345H probably damaging Het
Limch1 A G 5: 67,159,825 (GRCm39) K418E probably damaging Het
Lrrc37 T A 11: 103,511,726 (GRCm39) T81S unknown Het
Med17 C T 9: 15,173,735 (GRCm39) probably null Het
Met A T 6: 17,571,799 (GRCm39) I1373F probably benign Het
Naip6 T A 13: 100,436,894 (GRCm39) Q543L possibly damaging Het
Nat9 T C 11: 115,075,902 (GRCm39) T40A probably damaging Het
Ogdh A G 11: 6,292,619 (GRCm39) N455S probably damaging Het
Or52k2 C A 7: 102,254,207 (GRCm39) F215L probably benign Het
Pde4a T C 9: 21,117,534 (GRCm39) F599L probably benign Het
Pga5 T C 19: 10,649,173 (GRCm39) Y249C probably damaging Het
Plekha8 A T 6: 54,607,539 (GRCm39) K382M probably damaging Het
Plekhd1 A T 12: 80,753,149 (GRCm39) E119V probably damaging Het
Pnp A T 14: 51,185,356 (GRCm39) H20L probably benign Het
Polq A T 16: 36,837,559 (GRCm39) probably null Het
Psma3 T G 12: 71,035,250 (GRCm39) I177R probably damaging Het
Ptpn3 A G 4: 57,240,784 (GRCm39) probably null Het
Ptprt A T 2: 161,400,806 (GRCm39) L1077Q probably damaging Het
Rbm47 A T 5: 66,184,573 (GRCm39) M10K possibly damaging Het
Rere A G 4: 150,703,653 (GRCm39) D186G probably damaging Het
Rpl24 T C 16: 55,787,453 (GRCm39) S38P probably damaging Het
Slco1a1 A T 6: 141,885,787 (GRCm39) F79L possibly damaging Het
Sorl1 T A 9: 41,903,041 (GRCm39) D1551V probably benign Het
Spast G A 17: 74,666,293 (GRCm39) V209I probably benign Het
Spindoc G T 19: 7,335,769 (GRCm39) Q340K possibly damaging Het
Tlr6 T C 5: 65,111,185 (GRCm39) Y574C probably damaging Het
Tnrc6a A G 7: 122,791,346 (GRCm39) N1748S possibly damaging Het
Trbv13-2 A T 6: 41,098,474 (GRCm39) K16N probably benign Het
Triobp C T 15: 78,878,326 (GRCm39) H1750Y possibly damaging Het
Ubc C T 5: 125,465,095 (GRCm39) M77I probably damaging Het
Usp24 A G 4: 106,225,933 (GRCm39) D659G possibly damaging Het
Vmn2r88 T A 14: 51,656,253 (GRCm39) C821S probably damaging Het
Whamm T A 7: 81,224,295 (GRCm39) V197D probably damaging Het
Zfp777 A G 6: 48,006,101 (GRCm39) F431S probably damaging 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
PIT4354001:Sos1 UTSW 17 80,756,785 (GRCm39) missense possibly damaging 0.52
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
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'- TGCCCATGGTTTGATTTACAGC -3'
(R):5'- GGTCTACTTTCCCATTATAACATGTGC -3'

Sequencing Primer
(F):5'- GCAAATCATTAAGCCATCGAAGAG -3'
(R):5'- CCCATTATAACATGTGCTGTATGC -3'
Posted On 2020-09-02