Incidental Mutation 'R3412:Sos1'
ID 267784
Institutional Source Beutler Lab
Gene Symbol Sos1
Ensembl Gene ENSMUSG00000024241
Gene Name SOS Ras/Rac guanine nucleotide exchange factor 1
Synonyms 4430401P03Rik
MMRRC Submission 040630-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3412 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 80701181-80787882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80714146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1108 (D1108G)
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: D1108G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067786
Gene: ENSMUSG00000024241
AA Change: D1108G

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 0.0585 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (40/41)
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
Adarb2 T C 13: 8,802,654 (GRCm39) F643S probably damaging Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Arhgef5 A G 6: 43,250,724 (GRCm39) I492V probably benign Het
Atp8b4 C A 2: 126,217,677 (GRCm39) W613L probably damaging Het
Ccdc162 T C 10: 41,415,545 (GRCm39) probably benign Het
Duxf4 G A 10: 58,072,175 (GRCm39) T13I possibly damaging Het
Esp24 T A 17: 39,349,207 (GRCm39) I11N possibly damaging Het
Exoc4 A G 6: 33,242,910 (GRCm39) E41G probably damaging Het
Eya1 T A 1: 14,344,433 (GRCm39) probably null Het
Gckr T A 5: 31,458,211 (GRCm39) probably null Het
Gria4 T A 9: 4,513,278 (GRCm39) D277V probably benign Het
Il18r1 A T 1: 40,530,227 (GRCm39) D318V probably damaging Het
Il4i1 T C 7: 44,486,082 (GRCm39) L22P probably damaging Het
Inpp5d C A 1: 87,595,779 (GRCm39) T175N possibly damaging Het
Krt90 T A 15: 101,469,028 (GRCm39) L171F probably damaging Het
Mthfd1 A G 12: 76,350,523 (GRCm39) probably null Het
Or51f5 T C 7: 102,423,962 (GRCm39) L77P possibly damaging Het
Or51q1 T C 7: 103,628,609 (GRCm39) L76P probably damaging Het
Or5an1c T C 19: 12,218,954 (GRCm39) I24V probably benign Het
Or6c1b A T 10: 129,273,176 (GRCm39) D165V probably damaging Het
Pla2g4f T C 2: 120,133,587 (GRCm39) S579G probably benign Het
Ppef2 T G 5: 92,376,581 (GRCm39) S649R probably damaging Het
Prss43 G C 9: 110,658,532 (GRCm39) Q277H probably damaging Het
Ramp2 TTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTG 11: 101,137,371 (GRCm39) probably benign Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Sez6l A G 5: 112,623,227 (GRCm39) L108P possibly damaging Het
Slc12a5 A G 2: 164,810,351 (GRCm39) D10G probably benign Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Tacc2 A G 7: 130,336,724 (GRCm39) T2369A probably benign Het
Taok2 T C 7: 126,470,030 (GRCm39) I933V possibly damaging Het
Tex9 C A 9: 72,385,040 (GRCm39) Q265H possibly damaging Het
Trim69 T C 2: 122,009,125 (GRCm39) V395A probably benign Het
Tusc1 C A 4: 93,223,173 (GRCm39) R162L probably damaging Het
Ubr5 T C 15: 38,004,479 (GRCm39) probably benign Het
Utp25 A C 1: 192,810,810 (GRCm39) S64R possibly damaging Het
Zfyve28 C T 5: 34,357,028 (GRCm39) M723I probably benign Het
Zmynd8 A T 2: 165,657,371 (GRCm39) M533K 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
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'- AAACCTCCCAAGTTGTAGGG -3'
(R):5'- AAATCTCCTGGTGTTCGTCC -3'

Sequencing Primer
(F):5'- AACCTCCCAAGTTGTAGGGTTTAG -3'
(R):5'- GGTGTTCGTCCATCAAATCCAAG -3'
Posted On 2015-02-18