Incidental Mutation 'IGL02170:Sos1'
ID282864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sos1
Ensembl Gene ENSMUSG00000024241
Gene NameSOS Ras/Rac guanine nucleotide exchange factor 1
Synonyms4430401P03Rik
Accession Numbers

Genbank: NM_009231.2; Ensembl: ENSMUST00000068714

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02170
Quality Score
Status
Chromosome17
Chromosomal Location80393752-80480453 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 80398290 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 1284 (T1284N)
Ref Sequence ENSEMBL: ENSMUSP00000067786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068714]
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: T1284N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067786
Gene: ENSMUSG00000024241
AA Change: T1284N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226013
Coding Region Coverage
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 17,118,332 P176L probably damaging Het
4932414N04Rik A G 2: 68,731,123 M265V probably benign Het
A2ml1 T C 6: 128,547,210 E1153G possibly damaging Het
Adam22 T C 5: 8,134,845 T452A probably benign Het
Ambra1 A G 2: 91,767,087 T56A possibly damaging Het
Atp1a4 A G 1: 172,234,536 V674A possibly damaging Het
AW549877 C T 15: 3,986,366 V239I probably benign Het
Ccnb1 A T 13: 100,783,486 Y172* probably null Het
Chrdl2 A T 7: 100,034,614 T416S possibly damaging Het
Col6a5 A G 9: 105,928,422 L1095P unknown Het
Dhx16 T C 17: 35,889,469 C901R probably damaging Het
Dip2c A G 13: 9,606,335 T732A probably benign Het
Dnah12 A C 14: 26,773,112 I1376L probably damaging Het
Dock2 A T 11: 34,267,949 L1207Q probably damaging Het
Eif2ak1 A T 5: 143,879,460 H192L probably benign Het
Evi5 T A 5: 107,821,884 T54S probably benign Het
Fam151a T C 4: 106,735,598 probably null Het
Fam98a C T 17: 75,540,192 probably null Het
Frmd4a G A 2: 4,566,177 R306K probably damaging Het
Fxyd7 C A 7: 31,045,007 V28L possibly damaging Het
Gabrb1 T A 5: 72,136,730 I449K probably damaging Het
Gkn3 G T 6: 87,383,511 D167E possibly damaging Het
Gm14496 A T 2: 181,996,351 Y406F probably damaging Het
Gm17359 C A 3: 79,449,434 probably benign Het
Gm17359 C A 3: 79,449,435 probably benign Het
Gm8603 T A 17: 13,516,811 noncoding transcript Het
Hecw1 T C 13: 14,264,158 N880S possibly damaging Het
Hivep2 C A 10: 14,127,804 Q49K possibly damaging Het
Hscb T A 5: 110,839,626 S35C probably damaging Het
Hspa12a T G 19: 58,804,681 K357N probably benign Het
Kcnu1 A T 8: 25,937,560 I302F probably damaging Het
Krtap5-3 T A 7: 142,202,478 C351S unknown Het
Mvd A G 8: 122,438,008 V142A probably benign Het
Myo1f A T 17: 33,578,272 I143L probably benign Het
Ncoa7 T A 10: 30,689,853 E599D possibly damaging Het
Nfasc A T 1: 132,610,366 C495* probably null Het
Nfx1 G A 4: 41,018,019 G920E probably damaging Het
Nlrp4g T G 9: 124,348,980 noncoding transcript Het
Nup85 T A 11: 115,577,931 V200E probably damaging Het
Olfr262 T C 19: 12,240,756 M302V probably benign Het
Olfr30 T A 11: 58,455,080 I290F probably damaging Het
Pask T C 1: 93,310,884 Q1293R possibly damaging Het
Ppfia2 T A 10: 106,800,785 S232T probably benign Het
Prr12 G A 7: 45,046,188 R1285W unknown Het
Slc1a1 T A 19: 28,902,753 F278I possibly damaging Het
Sp2 T A 11: 96,956,210 Q475L probably damaging Het
Sspo A T 6: 48,467,983 T2134S possibly damaging Het
Tbx1 C A 16: 18,582,802 A300S probably benign Het
Tmem5 A T 10: 122,094,643 D126E probably damaging Het
Uap1 A C 1: 170,166,712 V65G probably benign Het
Ubr2 G A 17: 46,967,197 T738I probably benign Het
Uvrag A T 7: 99,109,090 Y81* probably null Het
Vmn2r116 T G 17: 23,384,933 I44S probably benign Het
Xkr8 A T 4: 132,728,377 Y228* probably null Het
Zbtb20 A G 16: 43,609,662 I106V possibly damaging Het
Zc3h7a C T 16: 11,146,395 S683N probably benign Het
Zfp146 A T 7: 30,162,480 C46S possibly damaging Het
Zfp871 T C 17: 32,775,688 E152G possibly damaging Het
Zfp90 T C 8: 106,419,524 V57A probably damaging Het
Zhx3 A T 2: 160,779,798 N816K probably damaging Het
Other mutations in Sos1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:Sos1 APN 17 80398524 missense possibly damaging 0.94
IGL00915:Sos1 APN 17 80433938 missense probably benign 0.00
IGL00929:Sos1 APN 17 80408596 missense probably damaging 1.00
IGL01073:Sos1 APN 17 80422747 missense probably damaging 1.00
IGL01116:Sos1 APN 17 80445500 missense probably damaging 1.00
IGL01533:Sos1 APN 17 80415082 missense probably damaging 0.97
IGL01546:Sos1 APN 17 80408611 missense probably damaging 1.00
IGL01583:Sos1 APN 17 80433900 missense probably benign 0.11
IGL01628:Sos1 APN 17 80422677 splice site probably benign
IGL01837:Sos1 APN 17 80422728 missense probably damaging 1.00
IGL02426:Sos1 APN 17 80434943 missense possibly damaging 0.82
IGL02992:Sos1 APN 17 80419016 missense probably benign 0.01
IGL03037:Sos1 APN 17 80420329 missense probably damaging 0.98
1mM(1):Sos1 UTSW 17 80455057 missense possibly damaging 0.46
PIT4354001:Sos1 UTSW 17 80449356 missense possibly damaging 0.52
R0056:Sos1 UTSW 17 80413621 missense probably damaging 1.00
R0348:Sos1 UTSW 17 80408311 missense probably benign
R0373:Sos1 UTSW 17 80453763 missense probably damaging 1.00
R0477:Sos1 UTSW 17 80434934 missense possibly damaging 0.92
R0621:Sos1 UTSW 17 80451979 critical splice donor site probably null
R0839:Sos1 UTSW 17 80433730 missense probably damaging 1.00
R1174:Sos1 UTSW 17 80445608 nonsense probably null
R1490:Sos1 UTSW 17 80413675 missense probably benign 0.11
R1566:Sos1 UTSW 17 80453916 missense probably damaging 0.99
R1635:Sos1 UTSW 17 80422679 splice site probably null
R3412:Sos1 UTSW 17 80406717 missense probably benign
R3770:Sos1 UTSW 17 80398308 missense probably damaging 0.97
R3951:Sos1 UTSW 17 80424181 missense probably damaging 1.00
R3964:Sos1 UTSW 17 80455179 missense probably damaging 1.00
R3966:Sos1 UTSW 17 80455179 missense probably damaging 1.00
R4086:Sos1 UTSW 17 80449352 missense probably benign 0.06
R4087:Sos1 UTSW 17 80449352 missense probably benign 0.06
R4089:Sos1 UTSW 17 80449352 missense probably benign 0.06
R4194:Sos1 UTSW 17 80398584 missense probably benign 0.02
R4468:Sos1 UTSW 17 80453811 missense probably damaging 1.00
R4469:Sos1 UTSW 17 80453811 missense probably damaging 1.00
R4597:Sos1 UTSW 17 80433826 missense probably benign 0.05
R4773:Sos1 UTSW 17 80398231 missense probably damaging 0.99
R4923:Sos1 UTSW 17 80434952 missense probably benign 0.10
R5120:Sos1 UTSW 17 80408248 missense probably damaging 0.98
R5478:Sos1 UTSW 17 80433847 missense probably damaging 1.00
R5566:Sos1 UTSW 17 80453890 missense possibly damaging 0.91
R5984:Sos1 UTSW 17 80452132 missense possibly damaging 0.68
R6053:Sos1 UTSW 17 80415034 missense possibly damaging 0.94
R6153:Sos1 UTSW 17 80449335 missense probably benign 0.01
R6567:Sos1 UTSW 17 80433503 missense probably damaging 1.00
R7392:Sos1 UTSW 17 80424200 missense probably damaging 1.00
R7623:Sos1 UTSW 17 80479894 missense probably benign 0.28
R7763:Sos1 UTSW 17 80413713 missense probably benign
X0020:Sos1 UTSW 17 80449277 missense probably damaging 1.00
Z1177:Sos1 UTSW 17 80453918 missense not run
Posted On2015-04-16