Mutagenetix > Incidental Mutation

Incidental Mutation 'R5984:Sos1'

481579

Institutional Source

Beutler Lab

Gene Symbol

Sos1

Ensembl Gene

ENSMUSG00000024241

Gene Name

SOS Ras/Rac guanine nucleotide exchange factor 1

Synonyms

4430401P03Rik

MMRRC Submission

043251-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5984 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80701181-80787882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80759561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 190 (D190G)

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

possibly damaging
Transcript: ENSMUST00000068714
AA Change: D190G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000067786
Gene: ENSMUSG00000024241
AA Change: D190G

Domain	Start	End	E-Value	Type
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: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,439,165 (GRCm39)	L130F	probably benign	Het
Alox12	T	C	11: 70,137,881 (GRCm39)	T420A	possibly damaging	Het
Ano5	T	C	7: 51,243,412 (GRCm39)	I795T	probably damaging	Het
Atpsckmt	C	T	15: 31,617,065 (GRCm39)	R99*	probably null	Het
Crlf2	G	A	5: 109,703,469 (GRCm39)	P92L	probably damaging	Het
Dgat1	T	C	15: 76,386,458 (GRCm39)	Y492C	probably damaging	Het
Dna2	G	C	10: 62,798,285 (GRCm39)		probably null	Het
Dst	A	G	1: 34,211,344 (GRCm39)	H982R	probably benign	Het
F13b	A	G	1: 139,435,950 (GRCm39)	D252G	probably damaging	Het
Fgfr3	A	T	5: 33,887,049 (GRCm39)	E151V	probably damaging	Het
Gabpb1	T	C	2: 126,488,573 (GRCm39)	T264A	probably damaging	Het
Gemin5	T	C	11: 58,047,587 (GRCm39)	E329G	probably damaging	Het
Git1	C	T	11: 77,397,309 (GRCm39)	P721S	possibly damaging	Het
Hcn3	T	C	3: 89,055,570 (GRCm39)	E559G	probably benign	Het
Invs	G	A	4: 48,421,674 (GRCm39)	A769T	probably benign	Het
Ism2	T	A	12: 87,333,809 (GRCm39)	T79S	possibly damaging	Het
Lamb1	G	A	12: 31,377,773 (GRCm39)	E1673K	possibly damaging	Het
Lmtk2	T	A	5: 144,111,656 (GRCm39)	L792H	probably benign	Het
Lnpk	A	T	2: 74,352,543 (GRCm39)	S380T	probably benign	Het
Mff	A	G	1: 82,708,848 (GRCm39)	I66V	probably benign	Het
Mtor	A	G	4: 148,623,284 (GRCm39)	K2045E	probably benign	Het
Mycbp2	C	A	14: 103,364,120 (GRCm39)	W4393L	probably damaging	Het
Or1e31	T	A	11: 73,690,407 (GRCm39)	M59L	possibly damaging	Het
Or8k32	A	T	2: 86,368,512 (GRCm39)	V249E	probably damaging	Het
Pcdha5	A	G	18: 37,094,733 (GRCm39)	D414G	probably damaging	Het
Pknox2	T	C	9: 36,835,022 (GRCm39)	E149G	probably damaging	Het
Plxdc2	A	G	2: 16,665,666 (GRCm39)	R240G	probably benign	Het
Polr3d	A	T	14: 70,676,927 (GRCm39)	F389Y	possibly damaging	Het
Prex1	T	G	2: 166,427,664 (GRCm39)	D826A	probably damaging	Het
Prss50	T	A	9: 110,691,454 (GRCm39)	S253T	probably damaging	Het
Ptgfrn	T	C	3: 100,957,459 (GRCm39)	D705G	probably damaging	Het
Ptpn21	T	A	12: 98,655,335 (GRCm39)	N544I	probably damaging	Het
Rbm5	G	A	9: 107,622,141 (GRCm39)	P611L	probably damaging	Het
Rev3l	A	T	10: 39,618,685 (GRCm39)		probably benign	Het
Rnf139	T	C	15: 58,770,595 (GRCm39)	Y207H	probably benign	Het
Scn11a	C	T	9: 119,613,082 (GRCm39)	R836H	probably benign	Het
Slc30a1	A	G	1: 191,639,212 (GRCm39)	T32A	probably damaging	Het
Smad4	T	A	18: 73,810,982 (GRCm39)	M1L	probably benign	Het
Sptbn1	C	T	11: 30,068,464 (GRCm39)	D1677N	probably damaging	Het
Tmem132e	G	A	11: 82,335,923 (GRCm39)	D1002N	probably damaging	Het
Usp8	C	A	2: 126,584,401 (GRCm39)	Q526K	probably benign	Het
Wt1	A	G	2: 105,002,597 (GRCm39)	S488G	probably benign	Het
Zbtb43	A	G	2: 33,344,272 (GRCm39)	S318P	probably benign	Het

Other mutations in Sos1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TCTTGAAACTGTGGCAGCAC -3'
(R):5'- TTCAGCAAGAGTAACCGTGG -3'

Sequencing Primer
(F):5'- GCAGCACTTTATTTGTGATCAGGAC -3'
(R):5'- CTAGGAATGAAGCTCAGGTTCTC -3'

Posted On

2017-06-26