Incidental Mutation 'IGL01360:Sos2'
ID 75723
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sos2
Ensembl Gene ENSMUSG00000034801
Gene Name SOS Ras/Rho guanine nucleotide exchange factor 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01360
Quality Score
Status
Chromosome 12
Chromosomal Location 69630536-69728626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69637574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1046 (S1046T)
Ref Sequence ENSEMBL: ENSMUSP00000138589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035773] [ENSMUST00000182396] [ENSMUST00000183277]
AlphaFold Q02384
Predicted Effect probably benign
Transcript: ENSMUST00000035773
AA Change: S1078T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: S1078T

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 noncoding transcript
Transcript: ENSMUST00000083985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182123
Predicted Effect probably benign
Transcript: ENSMUST00000182396
AA Change: S1046T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: S1046T

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 noncoding transcript
Transcript: ENSMUST00000182646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182838
Predicted Effect probably benign
Transcript: ENSMUST00000183277
AA Change: S1079T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: S1079T

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,325,648 (GRCm39) I1517L possibly damaging Het
Akap12 A T 10: 4,307,537 (GRCm39) D1449V probably benign Het
Alg6 T A 4: 99,630,643 (GRCm39) Y161N probably benign Het
Arhgap45 A T 10: 79,864,482 (GRCm39) probably benign Het
Arhgap5 A T 12: 52,565,023 (GRCm39) I665F probably damaging Het
Bbs4 A G 9: 59,247,131 (GRCm39) V123A possibly damaging Het
Carm1 C T 9: 21,498,598 (GRCm39) T480I probably benign Het
Catsperb G A 12: 101,591,513 (GRCm39) V1032M probably damaging Het
Cdc42bpb A C 12: 111,308,509 (GRCm39) I101S probably damaging Het
Copa C A 1: 171,915,155 (GRCm39) probably null Het
Cramp1 T C 17: 25,216,547 (GRCm39) I189V probably damaging Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Egf A T 3: 129,533,669 (GRCm39) F57Y probably damaging Het
Flt4 T C 11: 49,534,333 (GRCm39) I1168T probably benign Het
Gm14178 A G 11: 99,638,269 (GRCm39) S37P unknown Het
Gpbp1 A T 13: 111,563,075 (GRCm39) probably benign Het
Herc1 T C 9: 66,390,981 (GRCm39) S3980P probably benign Het
Itga6 T C 2: 71,617,670 (GRCm39) probably null Het
Itgb4 T C 11: 115,881,766 (GRCm39) S772P probably damaging Het
Kcng4 C A 8: 120,352,416 (GRCm39) G498V probably benign Het
Lrp1 T G 10: 127,381,689 (GRCm39) D3795A possibly damaging Het
Lrrk2 T A 15: 91,584,772 (GRCm39) probably null Het
Mettl25 A T 10: 105,659,058 (GRCm39) H408Q probably damaging Het
Mki67 T C 7: 135,307,505 (GRCm39) E457G probably damaging Het
Mpl G A 4: 118,312,858 (GRCm39) T158I possibly damaging Het
Mtg2 C T 2: 179,725,870 (GRCm39) T160I probably damaging Het
Mtif2 A G 11: 29,480,110 (GRCm39) I59V probably benign Het
Ncapg C A 5: 45,831,727 (GRCm39) S191* probably null Het
Nup214 T C 2: 31,928,190 (GRCm39) probably benign Het
Or9m1 T C 2: 87,733,871 (GRCm39) T50A probably benign Het
Phf3 T A 1: 30,847,809 (GRCm39) T1245S probably damaging Het
Piezo2 T C 18: 63,250,770 (GRCm39) D443G probably damaging Het
Pramel19 A T 4: 101,797,665 (GRCm39) D21V possibly damaging Het
Ptchd4 C A 17: 42,627,936 (GRCm39) H132Q probably benign Het
Pum1 T C 4: 130,455,481 (GRCm39) probably benign Het
Slc30a7 A T 3: 115,783,765 (GRCm39) V136E probably damaging Het
Slc5a10 A G 11: 61,605,962 (GRCm39) V116A probably damaging Het
Svep1 A G 4: 58,116,554 (GRCm39) S899P possibly damaging Het
Tfr2 G A 5: 137,569,953 (GRCm39) V120I probably benign Het
Tnfrsf18 A T 4: 156,112,493 (GRCm39) R117* probably null Het
Trmt9b A G 8: 36,979,713 (GRCm39) I439V probably benign Het
Vmn1r77 T G 7: 11,775,315 (GRCm39) F30L probably benign Het
Vmn2r112 T C 17: 22,837,603 (GRCm39) M688T probably benign Het
Vmn2r93 T A 17: 18,525,510 (GRCm39) D389E possibly damaging Het
Zpld1 T G 16: 55,046,748 (GRCm39) N407T probably benign Het
Zranb3 C T 1: 127,887,622 (GRCm39) W935* probably null Het
Zyx G A 6: 42,327,378 (GRCm39) R59Q probably damaging Het
Other mutations in Sos2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Sos2 APN 12 69,663,623 (GRCm39) splice site probably benign
IGL01348:Sos2 APN 12 69,664,866 (GRCm39) missense probably damaging 0.99
IGL01586:Sos2 APN 12 69,654,172 (GRCm39) missense probably damaging 1.00
IGL01721:Sos2 APN 12 69,650,641 (GRCm39) missense probably damaging 0.99
IGL02024:Sos2 APN 12 69,664,822 (GRCm39) splice site probably benign
IGL02347:Sos2 APN 12 69,643,520 (GRCm39) missense probably benign
IGL02419:Sos2 APN 12 69,663,764 (GRCm39) missense probably benign
IGL02684:Sos2 APN 12 69,643,440 (GRCm39) missense probably damaging 1.00
IGL02719:Sos2 APN 12 69,663,958 (GRCm39) missense probably benign 0.00
IGL03099:Sos2 APN 12 69,663,133 (GRCm39) missense probably damaging 1.00
Bechamel UTSW 12 69,650,327 (GRCm39) missense probably damaging 1.00
sauce UTSW 12 69,643,569 (GRCm39) missense probably damaging 1.00
G1citation:Sos2 UTSW 12 69,697,423 (GRCm39) missense probably damaging 1.00
PIT4131001:Sos2 UTSW 12 69,664,851 (GRCm39) missense probably benign
R0038:Sos2 UTSW 12 69,643,467 (GRCm39) missense probably damaging 1.00
R0233:Sos2 UTSW 12 69,664,104 (GRCm39) missense probably benign 0.00
R0233:Sos2 UTSW 12 69,664,104 (GRCm39) missense probably benign 0.00
R0326:Sos2 UTSW 12 69,682,459 (GRCm39) missense probably damaging 1.00
R1386:Sos2 UTSW 12 69,661,432 (GRCm39) missense probably damaging 1.00
R1472:Sos2 UTSW 12 69,632,090 (GRCm39) splice site probably null
R1534:Sos2 UTSW 12 69,663,729 (GRCm39) missense probably damaging 1.00
R1861:Sos2 UTSW 12 69,664,137 (GRCm39) missense probably damaging 1.00
R1934:Sos2 UTSW 12 69,695,315 (GRCm39) missense probably damaging 0.99
R1964:Sos2 UTSW 12 69,663,636 (GRCm39) missense possibly damaging 0.51
R2402:Sos2 UTSW 12 69,643,573 (GRCm39) missense possibly damaging 0.95
R2516:Sos2 UTSW 12 69,697,433 (GRCm39) missense probably damaging 0.99
R2571:Sos2 UTSW 12 69,682,492 (GRCm39) missense possibly damaging 0.95
R3423:Sos2 UTSW 12 69,650,327 (GRCm39) missense probably damaging 1.00
R4435:Sos2 UTSW 12 69,661,473 (GRCm39) missense possibly damaging 0.79
R4508:Sos2 UTSW 12 69,682,435 (GRCm39) nonsense probably null
R4595:Sos2 UTSW 12 69,663,663 (GRCm39) missense probably damaging 1.00
R4606:Sos2 UTSW 12 69,661,380 (GRCm39) intron probably benign
R4691:Sos2 UTSW 12 69,663,102 (GRCm39) missense probably damaging 1.00
R4716:Sos2 UTSW 12 69,654,145 (GRCm39) missense probably benign 0.04
R4863:Sos2 UTSW 12 69,686,928 (GRCm39) missense probably benign 0.04
R5179:Sos2 UTSW 12 69,697,502 (GRCm39) nonsense probably null
R5319:Sos2 UTSW 12 69,674,058 (GRCm39) missense probably benign 0.22
R5694:Sos2 UTSW 12 69,637,689 (GRCm39) missense probably damaging 0.96
R5877:Sos2 UTSW 12 69,643,569 (GRCm39) missense probably damaging 1.00
R6363:Sos2 UTSW 12 69,678,885 (GRCm39) missense probably benign 0.00
R6465:Sos2 UTSW 12 69,643,549 (GRCm39) missense probably benign 0.01
R6817:Sos2 UTSW 12 69,664,935 (GRCm39) missense probably benign 0.32
R6822:Sos2 UTSW 12 69,697,423 (GRCm39) missense probably damaging 1.00
R7015:Sos2 UTSW 12 69,632,009 (GRCm39) missense probably benign 0.43
R7562:Sos2 UTSW 12 69,682,412 (GRCm39) missense probably benign 0.12
R7570:Sos2 UTSW 12 69,637,654 (GRCm39) missense probably damaging 1.00
R7757:Sos2 UTSW 12 69,695,359 (GRCm39) missense probably damaging 0.99
R7975:Sos2 UTSW 12 69,639,814 (GRCm39) missense probably benign 0.20
R8079:Sos2 UTSW 12 69,653,989 (GRCm39) missense probably damaging 1.00
R8194:Sos2 UTSW 12 69,645,598 (GRCm39) missense probably damaging 1.00
R8756:Sos2 UTSW 12 69,695,310 (GRCm39) missense probably damaging 1.00
R8775:Sos2 UTSW 12 69,664,006 (GRCm39) missense probably benign 0.02
R8775-TAIL:Sos2 UTSW 12 69,664,006 (GRCm39) missense probably benign 0.02
R9136:Sos2 UTSW 12 69,633,446 (GRCm39) missense possibly damaging 0.95
R9245:Sos2 UTSW 12 69,695,239 (GRCm39) missense probably damaging 1.00
Z1177:Sos2 UTSW 12 69,632,366 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07