Incidental Mutation 'R6153:Sos1'
ID 489415
Institutional Source Beutler Lab
Gene Symbol Sos1
Ensembl Gene ENSMUSG00000024241
Gene Name SOS Ras/Rac guanine nucleotide exchange factor 1
Synonyms 4430401P03Rik
MMRRC Submission 044300-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6153 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 80701181-80787882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80756764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 263 (I263L)
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: I263L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000067786
Gene: ENSMUSG00000024241
AA Change: I263L

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
Meta Mutation Damage Score 0.1073 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency 99% (66/67)
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
Abca13 G T 11: 9,251,259 (GRCm39) probably null Het
Ache T C 5: 137,290,117 (GRCm39) I394T probably damaging Het
Acsm1 G A 7: 119,232,289 (GRCm39) G62D probably damaging Het
Actrt3 T A 3: 30,653,899 (GRCm39) I34F probably damaging Het
Adgrf5 T C 17: 43,761,974 (GRCm39) I1223T possibly damaging Het
Adora2a T C 10: 75,161,981 (GRCm39) F40S possibly damaging Het
Ano8 T C 8: 71,933,441 (GRCm39) probably benign Het
Arid1b T A 17: 5,293,107 (GRCm39) L675Q probably damaging Het
Atg2b T C 12: 105,589,741 (GRCm39) I1837V possibly damaging Het
Atp10b A G 11: 43,145,109 (GRCm39) Y1284C probably damaging Het
B3gnt7 G T 1: 86,233,237 (GRCm39) G44V probably damaging Het
Chrna1 G T 2: 73,403,653 (GRCm39) H99N probably benign Het
Cnksr1 T C 4: 133,961,204 (GRCm39) H220R probably damaging Het
Cpsf2 T A 12: 101,965,619 (GRCm39) probably null Het
Daglb T C 5: 143,489,096 (GRCm39) L651P probably benign Het
Ddx60 A G 8: 62,398,974 (GRCm39) D231G possibly damaging Het
Ehd4 A C 2: 119,932,904 (GRCm39) F174C probably damaging Het
Emsy G T 7: 98,260,060 (GRCm39) P9T probably damaging Het
Fnbp1l T C 3: 122,352,805 (GRCm39) E217G probably benign Het
Gm11596 A T 11: 99,683,524 (GRCm39) C199S unknown Het
Gmps T G 3: 63,908,964 (GRCm39) C489G probably benign Het
Gpsm1 T C 2: 26,215,425 (GRCm39) Y296H probably benign Het
Heatr5b T C 17: 79,138,870 (GRCm39) T91A possibly damaging Het
Hs3st3b1 A T 11: 63,780,324 (GRCm39) W268R probably damaging Het
Il27ra T C 8: 84,758,773 (GRCm39) probably null Het
Itga5 T A 15: 103,265,880 (GRCm39) I156F probably damaging Het
Kcnmb3 T A 3: 32,527,976 (GRCm39) D96V probably damaging Het
Khdrbs1 T A 4: 129,609,965 (GRCm39) N417Y probably damaging Het
Loxhd1 A G 18: 77,383,454 (GRCm39) N118D possibly damaging Het
Mdm4 A G 1: 132,919,845 (GRCm39) L341P probably damaging Het
Mecom T C 3: 30,047,797 (GRCm39) E225G possibly damaging Het
Megf8 G A 7: 25,046,796 (GRCm39) G1560S possibly damaging Het
Mfsd13a A T 19: 46,356,321 (GRCm39) D142V probably damaging Het
Muc5b A T 7: 141,415,181 (GRCm39) Y2709F possibly damaging Het
Nelfa A T 5: 34,056,223 (GRCm39) I480N probably damaging Het
Or10ak8 G A 4: 118,773,944 (GRCm39) S240F probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Palld G T 8: 62,003,186 (GRCm39) N304K probably damaging Het
Pcsk5 A G 19: 17,488,856 (GRCm39) L988P probably damaging Het
Prmt1 A T 7: 44,631,251 (GRCm39) F34I probably damaging Het
Pzp A G 6: 128,465,979 (GRCm39) S1234P probably benign Het
Ralb A T 1: 119,405,870 (GRCm39) probably null Het
Robo2 T A 16: 73,717,617 (GRCm39) D141V probably damaging Het
Rsrc1 T C 3: 67,262,895 (GRCm39) I283T probably benign Het
Sec62 A T 3: 30,864,631 (GRCm39) K165M unknown Het
Sez6 A G 11: 77,868,648 (GRCm39) D974G probably damaging Het
Shc2 T A 10: 79,465,752 (GRCm39) I187F possibly damaging Het
Shroom3 G A 5: 93,112,267 (GRCm39) R1876Q probably damaging Het
Siglecg C A 7: 43,061,441 (GRCm39) N481K possibly damaging Het
Skil T A 3: 31,152,002 (GRCm39) F175I probably damaging Het
Slc1a1 T C 19: 28,886,935 (GRCm39) V432A probably damaging Het
Slit3 G T 11: 35,591,310 (GRCm39) G1374V possibly damaging Het
Snx14 T C 9: 88,273,859 (GRCm39) Y644C probably damaging Het
Snx33 T A 9: 56,833,983 (GRCm39) I29F possibly damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tbpl2 C A 2: 23,966,028 (GRCm39) V320F probably damaging Het
Tmem209 A G 6: 30,505,794 (GRCm39) S171P probably benign Het
Tprkb T A 6: 85,893,172 (GRCm39) probably null Het
Tspan11 G A 6: 127,916,061 (GRCm39) S119N probably benign Het
Ulk2 A T 11: 61,672,572 (GRCm39) V922D probably damaging Het
Zfp267 A G 3: 36,219,303 (GRCm39) H442R possibly damaging Het
Zfp976 A C 7: 42,263,610 (GRCm39) Y76D probably damaging Het
Zkscan2 G A 7: 123,088,993 (GRCm39) T426I probably benign 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
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'- TGTGACTTGAGCTGGAAATAGG -3'
(R):5'- CGCCATCCTTATTCCCAGAAAG -3'

Sequencing Primer
(F):5'- CTGGAAATAGGAATTATGAACCCC -3'
(R):5'- TGTTCTCCAGCCACAACAGACTG -3'
Posted On 2017-10-10