Mutagenetix > Incidental Mutations

Incidental Mutation 'R3412:Sos1'

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

Genbank: NM_009231.2; Ensembl: ENSMUST00000068714

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3412 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80393752-80480453 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80406717 bp

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]

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

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

Meta Mutation Damage Score

0.0585

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Arhgef5	A	G	6: 43,273,790	I492V	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Ccdc162	T	C	10: 41,539,549		probably benign	Het
Diexf	A	C	1: 193,128,502	S64R	possibly damaging	Het
Esp24	T	A	17: 39,038,316	I11N	possibly damaging	Het
Exoc4	A	G	6: 33,265,975	E41G	probably damaging	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Gm4981	G	A	10: 58,236,353	T13I	possibly damaging	Het
Gria4	T	A	9: 4,513,278	D277V	probably benign	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Inpp5d	C	A	1: 87,668,057	T175N	possibly damaging	Het
Krt90	T	A	15: 101,560,593	L171F	probably damaging	Het
Mthfd1	A	G	12: 76,303,749		probably null	Het
Olfr262	T	C	19: 12,241,590	I24V	probably benign	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr786	A	T	10: 129,437,307	D165V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,246,545		probably benign	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc12a5	A	G	2: 164,968,431	D10G	probably benign	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Tacc2	A	G	7: 130,734,994	T2369A	probably benign	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubr5	T	C	15: 38,004,235		probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	Het

Other mutations in Sos1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02170:Sos1	APN	17	80398290	missense	probably damaging	0.99
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
BB007:Sos1	UTSW	17	80406838	missense	probably benign	0.00
BB017:Sos1	UTSW	17	80406838	missense	probably benign	0.00
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
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
R7930:Sos1	UTSW	17	80406838	missense	probably benign	0.00
R8132:Sos1	UTSW	17	80408602	missense	probably damaging	1.00
R8236:Sos1	UTSW	17	80408283	missense	probably benign	0.41
R8322:Sos1	UTSW	17	80408299	missense	probably damaging	0.96
R8348:Sos1	UTSW	17	80434119	missense	probably benign	0.00
R8448:Sos1	UTSW	17	80434119	missense	probably benign	0.00
R8554:Sos1	UTSW	17	80398413	missense	probably damaging	0.99
X0020:Sos1	UTSW	17	80449277	missense	probably damaging	1.00
Z1177:Sos1	UTSW	17	80453918	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