Incidental Mutation 'IGL02024:Sos2'
ID |
184107 |
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)
|
Stock # |
IGL02024
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
69630536-69728626 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 69664822 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035773]
[ENSMUST00000182396]
[ENSMUST00000183277]
|
AlphaFold |
Q02384 |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
G |
A |
6: 23,113,705 (GRCm39) |
H246Y |
probably damaging |
Het |
Abat |
G |
A |
16: 8,429,000 (GRCm39) |
A322T |
probably damaging |
Het |
Bcat1 |
A |
G |
6: 144,978,564 (GRCm39) |
V152A |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,969,826 (GRCm39) |
|
probably benign |
Het |
Elavl2 |
T |
C |
4: 91,141,776 (GRCm39) |
T291A |
probably benign |
Het |
Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
Fcgbp |
G |
A |
7: 27,805,799 (GRCm39) |
C2026Y |
probably damaging |
Het |
Fcgrt |
T |
A |
7: 44,744,682 (GRCm39) |
H258L |
probably damaging |
Het |
Galnt6 |
C |
T |
15: 100,601,374 (GRCm39) |
D302N |
probably benign |
Het |
Gldc |
T |
A |
19: 30,078,227 (GRCm39) |
R923S |
probably damaging |
Het |
Hspg2 |
G |
T |
4: 137,267,384 (GRCm39) |
A2033S |
probably damaging |
Het |
Htr2c |
T |
A |
X: 145,858,921 (GRCm39) |
M77K |
probably damaging |
Het |
Ifi208 |
A |
G |
1: 173,510,856 (GRCm39) |
Y337C |
probably damaging |
Het |
Ints11 |
G |
T |
4: 155,972,972 (GRCm39) |
W554L |
probably damaging |
Het |
Itgbl1 |
T |
A |
14: 124,094,904 (GRCm39) |
C186S |
probably damaging |
Het |
Lipf |
A |
G |
19: 33,953,995 (GRCm39) |
Y362C |
probably damaging |
Het |
Map2k7 |
T |
A |
8: 4,297,663 (GRCm39) |
S421R |
possibly damaging |
Het |
Mroh9 |
T |
G |
1: 162,890,071 (GRCm39) |
N222T |
possibly damaging |
Het |
Msl3 |
C |
A |
X: 167,453,247 (GRCm39) |
R89L |
probably benign |
Het |
Nrip1 |
T |
A |
16: 76,088,563 (GRCm39) |
D998V |
probably benign |
Het |
Nrk |
T |
A |
X: 137,896,678 (GRCm39) |
I1265N |
probably damaging |
Het |
Ntn5 |
A |
G |
7: 45,340,830 (GRCm39) |
|
probably benign |
Het |
Or11g27 |
A |
G |
14: 50,771,307 (GRCm39) |
N146S |
probably benign |
Het |
Or5w20 |
A |
T |
2: 87,727,243 (GRCm39) |
R233S |
possibly damaging |
Het |
Or6s1 |
T |
G |
14: 51,308,766 (GRCm39) |
E28A |
probably benign |
Het |
Plch2 |
T |
C |
4: 155,127,595 (GRCm39) |
|
probably benign |
Het |
Porcn |
C |
T |
X: 8,067,901 (GRCm39) |
V233I |
probably benign |
Het |
Ppp2r2a |
T |
C |
14: 67,276,361 (GRCm39) |
K48R |
probably benign |
Het |
Ppp4r3c1 |
G |
A |
X: 88,975,129 (GRCm39) |
T356I |
probably benign |
Het |
Rccd1 |
A |
T |
7: 79,968,755 (GRCm39) |
D268E |
probably benign |
Het |
Sacs |
C |
A |
14: 61,427,127 (GRCm39) |
S178R |
probably damaging |
Het |
Samd12 |
T |
A |
15: 53,521,862 (GRCm39) |
D116V |
probably damaging |
Het |
Slc12a8 |
A |
G |
16: 33,428,568 (GRCm39) |
E46G |
probably damaging |
Het |
Slc30a10 |
A |
T |
1: 185,187,438 (GRCm39) |
I60F |
possibly damaging |
Het |
Slc6a8 |
C |
T |
X: 72,722,583 (GRCm39) |
|
probably benign |
Het |
Tbc1d31 |
T |
C |
15: 57,783,338 (GRCm39) |
V79A |
probably benign |
Het |
Tmem184c |
A |
T |
8: 78,331,443 (GRCm39) |
V102E |
probably benign |
Het |
Ttc19 |
G |
T |
11: 62,203,939 (GRCm39) |
R300I |
probably damaging |
Het |
Unc5d |
T |
A |
8: 29,142,855 (GRCm39) |
I866F |
probably benign |
Het |
Vmn1r7 |
A |
T |
6: 57,001,874 (GRCm39) |
C129S |
probably benign |
Het |
Vps41 |
T |
A |
13: 18,975,827 (GRCm39) |
|
probably benign |
Het |
Vwa8 |
C |
T |
14: 79,331,724 (GRCm39) |
A1275V |
possibly damaging |
Het |
|
Other mutations in Sos2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
IGL01360:Sos2
|
APN |
12 |
69,637,574 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
2014-05-07 |