Mutagenetix > Incidental Mutation

Incidental Mutation 'R5566:Sos1'

436878

Institutional Source

Beutler Lab

Gene Symbol

Sos1

Ensembl Gene

ENSMUSG00000024241

Gene Name

SOS Ras/Rac guanine nucleotide exchange factor 1

Synonyms

4430401P03Rik

MMRRC Submission

043123-MU

Accession Numbers

Genbank: NM_009231.2; Ensembl: ENSMUST00000068714

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80393752-80480453 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80453890 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 126 (V126I)

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: V126I

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000067786
Gene: ENSMUSG00000024241
AA Change: V126I

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: 99.7%
10x: 98.4%
20x: 95.5%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,180,692	I26T	possibly damaging	Het
Abca13	T	A	11: 9,294,615	Y2159*	probably null	Het
Abca3	A	G	17: 24,383,927	T499A	probably benign	Het
Abcb5	T	A	12: 118,935,967	T322S	probably damaging	Het
Adamts4	T	A	1: 171,250,850	M1K	probably null	Het
Adamtsl4	C	T	3: 95,685,455		probably null	Het
Adh4	A	T	3: 138,424,189	I259F	probably damaging	Het
Aff3	G	A	1: 38,181,424	S1135F	probably damaging	Het
Arhgef16	T	C	4: 154,285,648	D280G	probably benign	Het
Baiap3	T	C	17: 25,251,733	E71G	probably damaging	Het
BC030867	T	A	11: 102,255,833	S312T	probably damaging	Het
Calb2	A	G	8: 110,152,700	I91T	possibly damaging	Het
Ccr5	A	G	9: 124,124,660	N100S	probably benign	Het
Cep57	G	T	9: 13,821,575	R25S	probably damaging	Het
Chadl	A	G	15: 81,695,878	L52P	probably damaging	Het
Clec12b	T	C	6: 129,385,475	T6A	probably damaging	Het
Cnga1	T	A	5: 72,618,250	N43Y	probably damaging	Het
Col20a1	A	T	2: 180,986,523		probably null	Het
Csmd2	T	C	4: 128,462,889		probably null	Het
Ctps	A	T	4: 120,554,103		probably null	Het
Cyp39a1	T	A	17: 43,685,208	W224R	possibly damaging	Het
Defb29	A	T	2: 152,538,928	Y54N	probably benign	Het
Dmbt1	A	T	7: 131,106,273	D1241V	probably damaging	Het
Dnah1	A	T	14: 31,274,366	I2671K	probably benign	Het
Dnah2	C	A	11: 69,516,569	E158*	probably null	Het
Edar	A	G	10: 58,628,641	S59P	possibly damaging	Het
Egr2	T	A	10: 67,540,766	C339*	probably null	Het
Eif5b	G	A	1: 38,045,684	V871I	possibly damaging	Het
Eif5b	G	A	1: 38,051,247	G1169E	probably damaging	Het
Erap1	A	G	13: 74,662,412	Y290C	probably damaging	Het
Fastkd5	T	A	2: 130,614,301	T790S	possibly damaging	Het
Fkrp	C	T	7: 16,810,924	V338M	probably damaging	Het
Gabra6	T	C	11: 42,307,490	T378A	probably benign	Het
Gm4924	C	A	10: 82,378,641	Q17K	possibly damaging	Het
Gm9847	A	G	12: 14,494,999		noncoding transcript	Het
Gpr108	A	G	17: 57,236,919	F429S	probably damaging	Het
Gpr162	G	A	6: 124,860,938	R250*	probably null	Het
Gtf2a1	A	T	12: 91,567,594	D295E	possibly damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Herc1	T	A	9: 66,465,537	M3125K	possibly damaging	Het
Hoxb6	T	A	11: 96,300,754	Y167*	probably null	Het
Htt	T	C	5: 34,849,075	Y1443H	probably damaging	Het
Il21r	A	G	7: 125,625,298	D28G	probably damaging	Het
Impact	T	G	18: 12,974,762	V29G	probably damaging	Het
Itpr3	A	G	17: 27,115,952	T2147A	possibly damaging	Het
Itsn2	T	A	12: 4,626,554	L50Q	probably damaging	Het
Jade1	A	G	3: 41,604,903	D473G	possibly damaging	Het
Kif26a	T	G	12: 112,157,354	L131R	probably damaging	Het
Kif2a	A	T	13: 106,993,924	M1K	probably null	Het
Lrsam1	C	A	2: 32,941,858	Q368H	probably damaging	Het
Macf1	T	C	4: 123,435,164	Q4592R	probably damaging	Het
Map3k5	T	C	10: 20,110,719	V893A	probably damaging	Het
Med13l	G	T	5: 118,728,665	V595F	possibly damaging	Het
Mocs1	T	A	17: 49,454,183	L435Q	possibly damaging	Het
Mtmr4	T	C	11: 87,604,530	L471P	probably damaging	Het
Myo7a	T	C	7: 98,064,816	E1616G	possibly damaging	Het
Nacad	T	A	11: 6,602,136	S352C	probably damaging	Het
Nfat5	T	A	8: 107,369,135	M817K	possibly damaging	Het
Ofcc1	C	A	13: 40,094,653	L668F	probably damaging	Het
Olfr1062	G	A	2: 86,423,377	Q100*	probably null	Het
Olfr18	T	C	9: 20,313,969	Q309R	probably benign	Het
Olfr527	C	A	7: 140,336,067	D68E	probably damaging	Het
Plxnb2	T	C	15: 89,164,020	T696A	probably benign	Het
Prkab2	T	A	3: 97,662,293	F58L	probably benign	Het
Prpf4	G	T	4: 62,415,969	L220F	probably benign	Het
Rad18	A	T	6: 112,681,346	D199E	probably benign	Het
Raet1e	T	C	10: 22,174,405	L29P	probably damaging	Het
Ralgapb	A	C	2: 158,494,710	T1089P	possibly damaging	Het
Rest	A	G	5: 77,282,326	E864G	probably benign	Het
Rgsl1	T	A	1: 153,793,774	I289F	probably damaging	Het
Rint1	T	C	5: 23,810,953	Y406H	probably damaging	Het
Rpl31	C	T	1: 39,370,027	R41C	probably benign	Het
Scn8a	T	C	15: 100,974,534	S485P	probably damaging	Het
Slamf1	T	A	1: 171,787,970	V249E	possibly damaging	Het
Slc39a12	C	T	2: 14,407,603	T362I	possibly damaging	Het
Srcap	T	C	7: 127,525,303	F215S	probably damaging	Het
Supt4a	T	A	11: 87,743,287	S110T	probably benign	Het
Tbc1d30	T	A	10: 121,302,110	T232S	probably damaging	Het
Tctex1d2	A	G	16: 32,419,900	Y31C	probably damaging	Het
Tenm3	A	G	8: 48,279,006	C1288R	probably damaging	Het
Tespa1	T	A	10: 130,355,487	L100*	probably null	Het
Tgm1	C	A	14: 55,712,436	R105L	probably damaging	Het
Tgoln1	G	A	6: 72,616,035	T154I	possibly damaging	Het
Trp53i13	G	A	11: 77,508,726	T259I	probably damaging	Het
Tubgcp4	T	A	2: 121,184,770	F320I	possibly damaging	Het
Vmn1r21	A	C	6: 57,844,094	Y122D	probably benign	Het
Vmn1r75	T	A	7: 11,880,480	D46E	probably damaging	Het
Vmn2r120	A	T	17: 57,545,290	L9M	possibly damaging	Het
Vmn2r59	A	G	7: 42,046,823	I165T	possibly damaging	Het
Vmn2r76	A	T	7: 86,226,078	Y564N	probably damaging	Het
Wee1	G	T	7: 110,126,050	E300*	probably null	Het
Xdh	T	C	17: 73,893,622	D1168G	probably damaging	Het
Zcchc6	A	T	13: 59,788,629	C817*	probably null	Het
Zfp54	A	G	17: 21,433,444	T67A	probably damaging	Het
Zfp941	G	T	7: 140,812,766	H227N	probably benign	Het
Zpr1	T	A	9: 46,281,075	V399D	possibly damaging	Het
Zzz3	A	G	3: 152,455,824	E285G	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
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
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
R8850:Sos1	UTSW	17	80433976	missense	probably damaging	1.00
R8966:Sos1	UTSW	17	80398450	missense	possibly damaging	0.87
R9051:Sos1	UTSW	17	80408294	missense	probably benign
R9355:Sos1	UTSW	17	80415050	missense	possibly damaging	0.71
R9378:Sos1	UTSW	17	80453810	missense	probably damaging	1.00
R9576:Sos1	UTSW	17	80434938	missense	probably benign	0.11
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'- GGTTACTGGAAATCTCTCCCC -3'
(R):5'- TGTACGCACGTGTGTCCTAC -3'

Sequencing Primer
(F):5'- GGTTACTGGAAATCTCTCCCCAAAAC -3'
(R):5'- TGTGTGTTTCTCATGAATGAACTAG -3'

Posted On

2016-10-24