Incidental Mutation 'R5478:Sos1'
| ID |
434189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sos1
|
| Ensembl Gene |
ENSMUSG00000024241 |
| Gene Name |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
| Synonyms |
4430401P03Rik |
| MMRRC Submission |
043039-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5478 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
80701181-80787882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80741276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 503
(D503G)
|
| 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: D503G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067786
Gene: ENSMUSG00000024241
AA Change: D503G
| 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 |
0.9672 |
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (63/64) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
C |
19: 43,827,904 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,683,478 (GRCm39) |
V920A |
possibly damaging |
Het |
| Alpk1 |
A |
G |
3: 127,471,368 (GRCm39) |
V1038A |
probably damaging |
Het |
| Amotl1 |
A |
G |
9: 14,504,048 (GRCm39) |
|
probably null |
Het |
| Apba2 |
T |
A |
7: 64,344,934 (GRCm39) |
Y41* |
probably null |
Het |
| BC048562 |
G |
A |
9: 108,322,363 (GRCm39) |
|
probably benign |
Het |
| Braf |
A |
G |
6: 39,654,508 (GRCm39) |
L86P |
possibly damaging |
Het |
| Capn3 |
A |
G |
2: 120,294,666 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
T |
C |
13: 24,296,028 (GRCm39) |
D371G |
probably damaging |
Het |
| Cdhr4 |
G |
A |
9: 107,872,790 (GRCm39) |
V280I |
possibly damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,187,108 (GRCm39) |
K53* |
probably null |
Het |
| Chl1 |
A |
T |
6: 103,660,182 (GRCm39) |
E353D |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,448,697 (GRCm39) |
N72K |
probably benign |
Het |
| Comtd1 |
A |
T |
14: 21,898,981 (GRCm39) |
|
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,685,543 (GRCm39) |
S290T |
probably benign |
Het |
| Defa35 |
A |
T |
8: 21,555,836 (GRCm39) |
Y65F |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,057,186 (GRCm39) |
C198S |
probably benign |
Het |
| Epha3 |
A |
C |
16: 63,403,896 (GRCm39) |
M734R |
probably damaging |
Het |
| Fastkd2 |
T |
C |
1: 63,778,345 (GRCm39) |
I406T |
probably benign |
Het |
| Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
| Gm16686 |
A |
T |
4: 88,673,714 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,885 (GRCm39) |
E279G |
probably benign |
Het |
| Gm5709 |
A |
T |
3: 59,543,095 (GRCm39) |
|
noncoding transcript |
Het |
| Grin3a |
C |
A |
4: 49,792,481 (GRCm39) |
M417I |
probably benign |
Het |
| Hnf4a |
A |
T |
2: 163,410,926 (GRCm39) |
M408L |
probably benign |
Het |
| Idh1 |
A |
T |
1: 65,200,997 (GRCm39) |
M318K |
probably benign |
Het |
| Krt222 |
A |
G |
11: 99,125,774 (GRCm39) |
S286P |
probably damaging |
Het |
| Mmrn2 |
A |
T |
14: 34,118,539 (GRCm39) |
T142S |
probably benign |
Het |
| Myocd |
G |
T |
11: 65,123,914 (GRCm39) |
|
probably null |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Or52ab7 |
T |
C |
7: 102,978,032 (GRCm39) |
L113P |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,425 (GRCm39) |
I126L |
possibly damaging |
Het |
| Pcdhgc4 |
C |
T |
18: 37,950,375 (GRCm39) |
T597M |
probably damaging |
Het |
| Pdrg1 |
A |
G |
2: 152,857,152 (GRCm39) |
|
probably benign |
Het |
| Per2 |
T |
A |
1: 91,360,590 (GRCm39) |
I521F |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,271,380 (GRCm39) |
L3058F |
probably damaging |
Het |
| Plaat5 |
A |
C |
19: 7,592,036 (GRCm39) |
|
probably benign |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,423 (GRCm39) |
|
probably null |
Het |
| Ppargc1b |
T |
A |
18: 61,440,639 (GRCm39) |
M744L |
probably benign |
Het |
| Prpf18 |
A |
T |
2: 4,643,705 (GRCm39) |
N155K |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,478,795 (GRCm39) |
N472K |
possibly damaging |
Het |
| Reln |
A |
T |
5: 22,209,201 (GRCm39) |
S1126T |
probably benign |
Het |
| Rnase11 |
A |
G |
14: 51,287,332 (GRCm39) |
L74P |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,780 (GRCm39) |
I324F |
probably damaging |
Het |
| Slc26a10 |
C |
A |
10: 127,009,818 (GRCm39) |
R576L |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,241,140 (GRCm39) |
E921D |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,374,609 (GRCm39) |
M296L |
probably damaging |
Het |
| Srpk2 |
G |
A |
5: 23,729,181 (GRCm39) |
T486I |
possibly damaging |
Het |
| Sult6b1 |
A |
T |
17: 79,202,101 (GRCm39) |
|
probably null |
Het |
| Tbc1d16 |
T |
C |
11: 119,045,917 (GRCm39) |
E509G |
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,966,050 (GRCm39) |
V536A |
probably damaging |
Het |
| Ugt2b36 |
A |
T |
5: 87,237,341 (GRCm39) |
V188D |
probably damaging |
Het |
| Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,518,996 (GRCm39) |
I542N |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,894,120 (GRCm39) |
P480S |
probably damaging |
Het |
| Zfp319 |
A |
G |
8: 96,052,193 (GRCm39) |
|
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 |
|
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'- TGTACACTTCAGCACTGGGC -3'
(R):5'- CATTGGACAGTGTTGCAATGAG -3'
Sequencing Primer
(F):5'- ACTGGGCAGCCTCATCTG -3'
(R):5'- CAGTGTTGCAATGAGTTCATAATGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation