Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01546:Sos1'

90335

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sos1

Ensembl Gene

ENSMUSG00000024241

Gene Name

SOS Ras/Rac guanine nucleotide exchange factor 1

Synonyms

4430401P03Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01546

Quality Score

Status

Chromosome

Chromosomal Location

80701181-80787882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80716040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 974 (Y974F)

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 damaging
Transcript: ENSMUST00000068714
AA Change: Y974F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067786
Gene: ENSMUSG00000024241
AA Change: Y974F

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

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amdhd2	C	A	17: 24,382,574 (GRCm39)	R22L	probably benign	Het
Arg2	T	C	12: 79,196,633 (GRCm39)		probably benign	Het
Catip	T	C	1: 74,401,954 (GRCm39)	L43P	probably damaging	Het
Ccdc30	A	C	4: 119,255,385 (GRCm39)	L123R	probably damaging	Het
Cep89	T	C	7: 35,120,325 (GRCm39)	L369P	probably damaging	Het
Dolpp1	T	C	2: 30,287,107 (GRCm39)	F180L	probably damaging	Het
Kctd19	T	C	8: 106,113,594 (GRCm39)	H670R	probably benign	Het
Kntc1	T	A	5: 123,903,068 (GRCm39)	I315N	probably benign	Het
Mfsd4b2	A	T	10: 39,797,471 (GRCm39)	W295R	probably damaging	Het
Mgam	A	G	6: 40,631,627 (GRCm39)	T116A	probably damaging	Het
Mn1	A	T	5: 111,569,114 (GRCm39)	D1028V	probably damaging	Het
Or1e17	G	A	11: 73,832,020 (GRCm39)	G316D	probably benign	Het
Or2ag1b	A	G	7: 106,288,738 (GRCm39)	S67P	probably damaging	Het
Or52b1	T	C	7: 104,978,899 (GRCm39)	R167G	probably damaging	Het
Or52j3	A	T	7: 102,836,617 (GRCm39)	I270F	probably damaging	Het
Or7a40	A	G	16: 16,491,129 (GRCm39)	S239P	probably damaging	Het
Or7g27	T	G	9: 19,250,068 (GRCm39)	V104G	possibly damaging	Het
Phc3	C	A	3: 31,015,888 (GRCm39)	A108S	probably damaging	Het
Pkhd1l1	A	G	15: 44,429,712 (GRCm39)	Y3310C	probably damaging	Het
Ppp4r3b	T	C	11: 29,159,488 (GRCm39)		probably null	Het
Slx4ip	A	G	2: 136,908,119 (GRCm39)	T159A	probably benign	Het
Spaca7b	T	A	8: 11,706,136 (GRCm39)	M133L	probably benign	Het
Taar8a	A	T	10: 23,952,813 (GRCm39)	Y139F	possibly damaging	Het
Vcam1	A	G	3: 115,909,591 (GRCm39)	C579R	possibly damaging	Het
Zdhhc17	C	T	10: 110,782,054 (GRCm39)	V547M	probably damaging	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
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
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

Posted On

2013-12-03