Mutagenetix > Incidental Mutation

Incidental Mutation 'R4923:Sos1'

378830

Institutional Source

Beutler Lab

Gene Symbol

Sos1

Ensembl Gene

ENSMUSG00000024241

Gene Name

SOS Ras/Rac guanine nucleotide exchange factor 1

Synonyms

4430401P03Rik

MMRRC Submission

042525-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80701181-80787882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80742381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 382 (N382S)

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: N382S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000067786
Gene: ENSMUSG00000024241
AA Change: N382S

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

0.0708

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (107/109)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	A	G	1: 173,287,372 (GRCm39)	D124G	probably benign	Het
Akr1c6	T	C	13: 4,504,494 (GRCm39)	M293T	probably damaging	Het
Albfm1	A	G	5: 90,709,158 (GRCm39)	T23A	probably benign	Het
Ankhd1	A	G	18: 36,722,505 (GRCm39)	T343A	probably damaging	Het
Ano2	T	C	6: 125,880,018 (GRCm39)		probably benign	Het
Arfgap2	G	A	2: 91,104,004 (GRCm39)	G353R	probably damaging	Het
Armc3	A	G	2: 19,297,791 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,889,528 (GRCm39)		probably null	Het
Brd4	A	G	17: 32,418,214 (GRCm39)	M13T	probably benign	Het
Btd	T	A	14: 31,384,044 (GRCm39)	M10K	possibly damaging	Het
C1s2	T	C	6: 124,602,649 (GRCm39)	K515E	probably benign	Het
Cars1	A	T	7: 143,123,587 (GRCm39)	Y455N	probably damaging	Het
Ccdc110	A	G	8: 46,396,460 (GRCm39)	S784G	probably benign	Het
Chic2	A	G	5: 75,171,872 (GRCm39)		probably benign	Het
Chka	A	T	19: 3,942,105 (GRCm39)		probably null	Het
Chrne	A	G	11: 70,506,101 (GRCm39)	I420T	possibly damaging	Het
Clstn1	T	C	4: 149,729,486 (GRCm39)	V747A	probably benign	Het
Cobll1	A	G	2: 64,929,602 (GRCm39)	S575P	possibly damaging	Het
Col6a6	A	T	9: 105,666,147 (GRCm39)	L3Q	probably damaging	Het
Comtd1	A	T	14: 21,898,813 (GRCm39)		probably benign	Het
Cpsf2	T	C	12: 101,948,243 (GRCm39)	V13A	probably benign	Het
Creb3l4	T	A	3: 90,149,521 (GRCm39)	I115L	probably benign	Het
Cyp2j12	C	T	4: 95,990,346 (GRCm39)	A407T	possibly damaging	Het
Ddr2	A	G	1: 169,825,498 (GRCm39)		probably null	Het
Dennd4c	T	C	4: 86,725,775 (GRCm39)	L743P	probably damaging	Het
Egfl8	T	C	17: 34,833,171 (GRCm39)	T192A	probably benign	Het
Elapor1	C	T	3: 108,379,284 (GRCm39)		probably null	Het
Elf3	A	G	1: 135,184,473 (GRCm39)		probably benign	Het
Entrep2	A	G	7: 64,417,439 (GRCm39)	S322P	probably benign	Het
Etv3	T	G	3: 87,443,223 (GRCm39)	L269R	possibly damaging	Het
Fah	C	A	7: 84,251,260 (GRCm39)		probably benign	Het
Fbll1	C	A	11: 35,688,407 (GRCm39)	L285F	probably benign	Het
Fcrla	A	T	1: 170,748,682 (GRCm39)	F154I	probably damaging	Het
Fnip2	T	A	3: 79,396,701 (GRCm39)		probably null	Het
Focad	T	C	4: 88,115,083 (GRCm39)		probably benign	Het
Gabrr1	T	A	4: 33,162,820 (GRCm39)	I462N	possibly damaging	Het
Gm57859	C	A	11: 113,579,805 (GRCm39)	T400K	probably benign	Het
Gnptab	A	G	10: 88,265,485 (GRCm39)	T366A	probably benign	Het
Hnrnpu	G	A	1: 178,159,017 (GRCm39)		probably benign	Het
Il17ra	T	A	6: 120,454,406 (GRCm39)	V299E	possibly damaging	Het
Impg1	G	A	9: 80,252,360 (GRCm39)	Q607*	probably null	Het
Impg1	T	A	9: 80,252,827 (GRCm39)	E374V	probably damaging	Het
Itgax	C	T	7: 127,747,700 (GRCm39)	L1039F	probably benign	Het
Kcnk2	A	T	1: 189,072,133 (GRCm39)	V65D	probably damaging	Het
Kif20b	A	C	19: 34,918,611 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lama5	T	G	2: 179,825,942 (GRCm39)	I2372L	probably benign	Het
Lilrb4a	A	G	10: 51,368,139 (GRCm39)	T85A	possibly damaging	Het
Mapk13	C	A	17: 28,997,197 (GRCm39)	H330N	probably benign	Het
Mars1	C	A	10: 127,132,549 (GRCm39)		probably benign	Het
Mdga1	C	A	17: 30,057,052 (GRCm39)	R818L	probably damaging	Het
Mdn1	T	A	4: 32,671,608 (GRCm39)	L476Q	possibly damaging	Het
Mup21	T	C	4: 62,066,202 (GRCm39)	E178G	probably benign	Het
Myg1	A	G	15: 102,240,288 (GRCm39)	N38S	probably benign	Het
Ncam1	A	T	9: 49,416,779 (GRCm39)	D837E	probably benign	Het
Ncam2	C	T	16: 81,386,679 (GRCm39)	P686L	possibly damaging	Het
Nck2	T	C	1: 43,500,231 (GRCm39)		probably benign	Het
Nfya	T	C	17: 48,707,563 (GRCm39)		probably benign	Het
Npat	A	G	9: 53,482,330 (GRCm39)	K1346R	probably damaging	Het
Odad2	C	G	18: 7,181,787 (GRCm39)	D846H	probably damaging	Het
Or12j3	G	T	7: 139,952,920 (GRCm39)	T201K	probably benign	Het
Or4a72	T	C	2: 89,406,023 (GRCm39)	T16A	probably damaging	Het
Or6c212	A	G	10: 129,558,681 (GRCm39)	V244A	probably benign	Het
Pde7b	G	T	10: 20,288,873 (GRCm39)	Q325K	probably damaging	Het
Pla2r1	A	T	2: 60,253,056 (GRCm39)	M1345K	probably benign	Het
Prkcz	T	C	4: 155,441,946 (GRCm39)	D62G	probably damaging	Het
Pros1	T	A	16: 62,723,935 (GRCm39)	C228S	possibly damaging	Het
Ptprc	A	G	1: 138,006,236 (GRCm39)	M782T	possibly damaging	Het
Rcn1	T	C	2: 105,219,518 (GRCm39)	D225G	probably benign	Het
Recql4	G	A	15: 76,594,381 (GRCm39)	R46C	probably damaging	Het
Rnf220	C	T	4: 117,346,797 (GRCm39)	R205Q	possibly damaging	Het
Samd13	T	C	3: 146,368,502 (GRCm39)	D11G	probably benign	Het
Scp2d1	T	A	2: 144,666,030 (GRCm39)	I123K	probably benign	Het
Skap1	A	T	11: 96,644,870 (GRCm39)	Y311F	probably damaging	Het
Slc2a10	T	C	2: 165,356,676 (GRCm39)	I112T	possibly damaging	Het
Slc34a1	G	A	13: 24,003,078 (GRCm39)	V243M	probably benign	Het
Slc39a2	G	A	14: 52,132,711 (GRCm39)	G218D	probably damaging	Het
Spam1	C	T	6: 24,796,655 (GRCm39)	T202I	probably damaging	Het
Tas2r138	T	A	6: 40,589,820 (GRCm39)	Q142L	possibly damaging	Het
Tec	T	A	5: 72,939,365 (GRCm39)	R217*	probably null	Het
Tmeff2	T	A	1: 50,969,804 (GRCm39)	V90D	probably benign	Het
Tmem119	T	C	5: 113,933,405 (GRCm39)	Y132C	probably damaging	Het
Topbp1	A	G	9: 103,190,035 (GRCm39)	I204V	probably benign	Het
Trappc14	A	T	5: 138,260,641 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,601,232 (GRCm39)	I17001N	probably damaging	Het
Vit	T	A	17: 78,894,270 (GRCm39)	M224K	probably benign	Het
Vmn1r179	T	G	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,743 (GRCm39)	N305D	probably benign	Het
Vmn2r61	A	G	7: 41,916,520 (GRCm39)	N378D	probably damaging	Het
Vmn2r87	A	G	10: 130,314,435 (GRCm39)	Y384H	probably damaging	Het
Wiz	C	T	17: 32,580,570 (GRCm39)	A294T	probably benign	Het
Xdh	C	A	17: 74,231,931 (GRCm39)	V260L	possibly damaging	Het
Xirp2	A	G	2: 67,343,237 (GRCm39)	K1826R	probably benign	Het
Zfp445	A	C	9: 122,681,358 (GRCm39)	I861R	probably benign	Het
Zfp691	T	C	4: 119,027,999 (GRCm39)	T78A	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
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'- TCTGAAAGACCAAGCTTGTCAC -3'
(R):5'- TGCAACCATGTCTGGACTAC -3'

Sequencing Primer
(F):5'- GACCAAGCTTGTCACTAATACTG -3'
(R):5'- AATGGGTTACAGCCACTTGC -3'

Posted On

2016-04-15