Incidental Mutation 'R3964:Sos1'
ID 312281
Institutional Source Beutler Lab
Gene Symbol Sos1
Ensembl Gene ENSMUSG00000024241
Gene Name SOS Ras/Rac guanine nucleotide exchange factor 1
Synonyms 4430401P03Rik
MMRRC Submission 040933-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3964 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 80701181-80787882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80762608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 73 (R73H)
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 damaging
Transcript: ENSMUST00000068714
AA Change: R73H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067786
Gene: ENSMUSG00000024241
AA Change: R73H

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 0.1044 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (64/65)
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
Adam21 C A 12: 81,607,583 (GRCm39) A60S possibly damaging Het
Arpp21 C G 9: 111,894,844 (GRCm39) V805L probably damaging Het
C1galt1c1 A T X: 37,720,453 (GRCm39) V181E probably benign Het
Cdh18 A T 15: 23,474,187 (GRCm39) T686S probably benign Het
Cemip T A 7: 83,600,717 (GRCm39) Y968F probably benign Het
Cep70 T A 9: 99,180,587 (GRCm39) F581I probably damaging Het
Ctc1 T A 11: 68,921,954 (GRCm39) V800D probably damaging Het
Cttnbp2nl T C 3: 104,913,321 (GRCm39) K188E probably damaging Het
Cux1 A G 5: 136,311,796 (GRCm39) V1180A probably damaging Het
Cux2 G T 5: 122,025,539 (GRCm39) S43* probably null Het
Dhx57 T A 17: 80,572,541 (GRCm39) K711* probably null Het
Ehbp1l1 C T 19: 5,760,601 (GRCm39) probably null Het
Esyt3 T A 9: 99,202,375 (GRCm39) D512V probably damaging Het
Gadl1 T C 9: 115,794,676 (GRCm39) S284P probably damaging Het
Gm14137 T A 2: 119,005,497 (GRCm39) S19T probably benign Het
Gpr141b A G 13: 19,913,614 (GRCm39) noncoding transcript Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gsdmc2 A G 15: 63,721,683 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,449,320 (GRCm39) T110A probably benign Het
Il23r G A 6: 67,443,281 (GRCm39) T274I probably benign Het
Inhbb C A 1: 119,345,291 (GRCm39) G333W probably damaging Het
Kcnb1 C T 2: 166,946,412 (GRCm39) C812Y probably damaging Het
Lrp1b A G 2: 41,202,482 (GRCm39) probably benign Het
Med31 C T 11: 72,102,755 (GRCm39) A118T probably benign Het
Mov10l1 A G 15: 88,896,366 (GRCm39) I737V probably benign Het
Mrs2 A G 13: 25,185,746 (GRCm39) I142T possibly damaging Het
Ms4a6b T C 19: 11,499,098 (GRCm39) S71P probably benign Het
Muc2 G A 7: 141,286,233 (GRCm39) R120H probably benign Het
Muc5b A T 7: 141,420,705 (GRCm39) I4191F possibly damaging Het
Myrf T C 19: 10,196,979 (GRCm39) E267G probably benign Het
Nfatc2 C T 2: 168,346,469 (GRCm39) S875N probably benign Het
Nmi T C 2: 51,846,081 (GRCm39) E67G possibly damaging Het
Nrap T C 19: 56,330,576 (GRCm39) S1126G probably damaging Het
Nucb2 A G 7: 116,128,110 (GRCm39) E273G probably damaging Het
Or10g9 A T 9: 39,911,767 (GRCm39) V252E possibly damaging Het
Or1j4 A G 2: 36,740,729 (GRCm39) T224A probably benign Het
Or8b1b T C 9: 38,375,979 (GRCm39) I214T probably benign Het
Or8b51 G A 9: 38,569,023 (GRCm39) L222F probably benign Het
Pcdhga12 A T 18: 37,900,254 (GRCm39) Q362L probably benign Het
Peak1 C T 9: 56,167,263 (GRCm39) E222K probably damaging Het
Pik3r1 T C 13: 101,825,193 (GRCm39) E458G possibly damaging Het
Pls1 T C 9: 95,667,665 (GRCm39) Q81R probably benign Het
Plxdc2 T A 2: 16,665,651 (GRCm39) F284I probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pole A G 5: 110,460,648 (GRCm39) K1143E probably damaging Het
Ppfia4 A T 1: 134,250,754 (GRCm39) D478E probably benign Het
Ptprd A G 4: 75,978,073 (GRCm39) probably benign Het
Ptprj A G 2: 90,298,785 (GRCm39) I315T probably benign Het
Rims1 T C 1: 22,497,709 (GRCm39) probably null Het
Rnf13 G A 3: 57,676,533 (GRCm39) G63S probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Shld2 T A 14: 33,981,644 (GRCm39) Q498L probably damaging Het
Slc50a1 T C 3: 89,176,093 (GRCm39) I151V probably benign Het
Snx27 T A 3: 94,438,613 (GRCm39) R207S probably damaging Het
Tbc1d9b A G 11: 50,059,523 (GRCm39) E975G possibly damaging Het
Tbccd1 A G 16: 22,660,523 (GRCm39) S98P probably damaging Het
Timd5 T A 11: 46,426,340 (GRCm39) V149D possibly damaging Het
Tmx4 T C 2: 134,441,981 (GRCm39) I206V possibly damaging Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Usp19 T A 9: 108,375,228 (GRCm39) V818E probably damaging Het
Wdr38 A G 2: 38,889,362 (GRCm39) Y51C probably damaging Het
Zfp456 T C 13: 67,514,900 (GRCm39) T269A probably benign Het
Zfp628 T C 7: 4,924,744 (GRCm39) S989P 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
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'- TGAAACCACGTTGTCCAACC -3'
(R):5'- AAACTGTCCTTAGTCCCTTAGTGAC -3'

Sequencing Primer
(F):5'- TTACCTCAACATGAATCCCTGG -3'
(R):5'- GTCCTTAGTCCCTTAGTGACCTAAC -3'
Posted On 2015-04-29