Incidental Mutation 'IGL01138:Sos2'
ID52498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sos2
Ensembl Gene ENSMUSG00000034801
Gene NameSOS Ras/Rho guanine nucleotide exchange factor 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01138
Quality Score
Status
Chromosome12
Chromosomal Location69583762-69681852 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 69616849 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035773] [ENSMUST00000182396] [ENSMUST00000183277]
PDB Structure
ORIENTATION OF PEPTIDE FRAGMENTS FROM SOS PROTEINS BOUND TO THE N-TERMINAL SH3 DOMAIN OF GRB2 DETERMINED BY NMR SPECTROSCOPY [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000035773
SMART Domains Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801

DomainStartEndE-ValueType
Pfam:Histone 54 169 3.7e-13 PFAM
RhoGEF 203 388 1.98e-35 SMART
PH 443 547 1.54e-14 SMART
RasGEFN 595 740 5.8e-52 SMART
RasGEF 775 1019 2.51e-92 SMART
low complexity region 1079 1099 N/A INTRINSIC
low complexity region 1144 1152 N/A INTRINSIC
low complexity region 1173 1192 N/A INTRINSIC
low complexity region 1200 1225 N/A INTRINSIC
low complexity region 1254 1269 N/A INTRINSIC
low complexity region 1276 1292 N/A INTRINSIC
low complexity region 1301 1309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182396
SMART Domains Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801

DomainStartEndE-ValueType
Pfam:Histone 97 169 1e-9 PFAM
Pfam:RhoGEF 203 344 1.6e-12 PFAM
PH 410 514 1.54e-14 SMART
RasGEFN 562 707 5.8e-52 SMART
RasGEF 742 986 2.51e-92 SMART
low complexity region 1046 1066 N/A INTRINSIC
low complexity region 1111 1119 N/A INTRINSIC
low complexity region 1140 1159 N/A INTRINSIC
low complexity region 1167 1192 N/A INTRINSIC
low complexity region 1221 1236 N/A INTRINSIC
low complexity region 1243 1259 N/A INTRINSIC
low complexity region 1268 1276 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183277
SMART Domains Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801

DomainStartEndE-ValueType
Pfam:Histone 97 169 8.9e-11 PFAM
RhoGEF 203 388 1.98e-35 SMART
PH 443 547 1.54e-14 SMART
RasGEFN 595 740 5.8e-52 SMART
RasGEF 775 1019 2.51e-92 SMART
low complexity region 1079 1099 N/A INTRINSIC
low complexity region 1144 1152 N/A INTRINSIC
low complexity region 1173 1192 N/A INTRINSIC
low complexity region 1200 1225 N/A INTRINSIC
low complexity region 1254 1269 N/A INTRINSIC
low complexity region 1276 1292 N/A INTRINSIC
low complexity region 1301 1309 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183306
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 regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal embryonic and adult histopathology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 60,854,859 V27A probably benign Het
Abcg5 T A 17: 84,664,847 R499S possibly damaging Het
Adamts13 T C 2: 26,983,042 S341P probably damaging Het
Adgrg1 T A 8: 95,003,457 C96S probably damaging Het
Arhgap44 A G 11: 65,041,449 F215S probably damaging Het
Arhgef25 A G 10: 127,184,170 F400L probably damaging Het
Baz1a T C 12: 54,930,325 E384G probably damaging Het
Col12a1 T C 9: 79,678,053 D1314G probably damaging Het
Col6a3 T A 1: 90,807,510 I806F probably damaging Het
Coro1c G A 5: 113,852,161 probably benign Het
CT030661.1 G A 17: 22,202,668 probably benign Het
Dnmt3b A T 2: 153,661,441 D4V probably benign Het
Ermn G T 2: 58,052,695 L8M possibly damaging Het
F13b T A 1: 139,517,212 N533K probably damaging Het
Fam171a1 T C 2: 3,202,620 V93A possibly damaging Het
Fam84b T A 15: 60,823,118 I260F probably damaging Het
Gpr107 T A 2: 31,172,016 L152Q probably benign Het
Guca1a C A 17: 47,400,384 E12D probably damaging Het
Igtp A G 11: 58,206,144 N47S possibly damaging Het
Lrrc8e A G 8: 4,234,084 N103S probably damaging Het
Lsmem1 A G 12: 40,180,699 L68P probably damaging Het
Maml3 A G 3: 51,690,558 S902P possibly damaging Het
Mkln1 A T 6: 31,432,990 N188Y probably damaging Het
Mlxip C T 5: 123,450,156 R771W probably damaging Het
Myf6 T C 10: 107,494,398 R103G probably damaging Het
Ncam2 T A 16: 81,517,579 I481K probably damaging Het
Nrap T A 19: 56,355,538 S645C probably damaging Het
Nup205 G T 6: 35,208,084 E813* probably null Het
Olfr157 A G 4: 43,835,617 L291P probably damaging Het
Plekhg5 C T 4: 152,106,978 R410W probably damaging Het
Pnmal2 C A 7: 16,945,163 T24K unknown Het
Polq A T 16: 37,045,869 Y476F possibly damaging Het
Prkd2 T C 7: 16,848,811 S200P probably damaging Het
Rif1 C A 2: 52,111,522 L1663I probably damaging Het
Serpina5 A G 12: 104,103,744 Y300C possibly damaging Het
Shroom4 T C X: 6,585,203 S806P probably damaging Het
Sirpa T C 2: 129,630,165 V290A probably damaging Het
Slc25a47 C T 12: 108,856,022 R246C probably damaging Het
Slc9a6 A G X: 56,623,431 D199G probably damaging Het
Smarca5 T A 8: 80,701,076 K1048M possibly damaging Het
Trpm5 T A 7: 143,074,569 M990L probably benign Het
Vmn2r99 A T 17: 19,382,623 T547S probably damaging Het
Vps13b T C 15: 35,446,770 probably benign Het
Other mutations in Sos2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Sos2 APN 12 69618092 missense probably damaging 0.99
IGL01360:Sos2 APN 12 69590800 missense probably benign 0.00
IGL01586:Sos2 APN 12 69607398 missense probably damaging 1.00
IGL01721:Sos2 APN 12 69603867 missense probably damaging 0.99
IGL02024:Sos2 APN 12 69618048 splice site probably benign
IGL02347:Sos2 APN 12 69596746 missense probably benign
IGL02419:Sos2 APN 12 69616990 missense probably benign
IGL02684:Sos2 APN 12 69596666 missense probably damaging 1.00
IGL02719:Sos2 APN 12 69617184 missense probably benign 0.00
IGL03099:Sos2 APN 12 69616359 missense probably damaging 1.00
PIT4131001:Sos2 UTSW 12 69618077 missense probably benign
R0038:Sos2 UTSW 12 69596693 missense probably damaging 1.00
R0233:Sos2 UTSW 12 69617330 missense probably benign 0.00
R0233:Sos2 UTSW 12 69617330 missense probably benign 0.00
R0326:Sos2 UTSW 12 69635685 missense probably damaging 1.00
R1386:Sos2 UTSW 12 69614658 missense probably damaging 1.00
R1472:Sos2 UTSW 12 69585316 unclassified probably null
R1534:Sos2 UTSW 12 69616955 missense probably damaging 1.00
R1861:Sos2 UTSW 12 69617363 missense probably damaging 1.00
R1934:Sos2 UTSW 12 69648541 missense probably damaging 0.99
R1964:Sos2 UTSW 12 69616862 missense possibly damaging 0.51
R2402:Sos2 UTSW 12 69596799 missense possibly damaging 0.95
R2516:Sos2 UTSW 12 69650659 missense probably damaging 0.99
R2571:Sos2 UTSW 12 69635718 missense possibly damaging 0.95
R3423:Sos2 UTSW 12 69603553 missense probably damaging 1.00
R4435:Sos2 UTSW 12 69614699 missense possibly damaging 0.79
R4508:Sos2 UTSW 12 69635661 nonsense probably null
R4595:Sos2 UTSW 12 69616889 missense probably damaging 1.00
R4606:Sos2 UTSW 12 69614606 intron probably benign
R4691:Sos2 UTSW 12 69616328 missense probably damaging 1.00
R4716:Sos2 UTSW 12 69607371 missense probably benign 0.04
R4863:Sos2 UTSW 12 69640154 missense probably benign 0.04
R5179:Sos2 UTSW 12 69650728 nonsense probably null
R5319:Sos2 UTSW 12 69627284 missense probably benign 0.22
R5694:Sos2 UTSW 12 69590915 missense probably damaging 0.96
R5877:Sos2 UTSW 12 69596795 missense probably damaging 1.00
R6363:Sos2 UTSW 12 69632111 missense probably benign 0.00
R6465:Sos2 UTSW 12 69596775 missense probably benign 0.01
R6817:Sos2 UTSW 12 69618161 missense probably benign 0.32
R6822:Sos2 UTSW 12 69650649 missense probably damaging 1.00
R7015:Sos2 UTSW 12 69585235 missense probably benign 0.43
Posted On2013-06-21