Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
A |
1: 25,571,711 (GRCm39) |
Q402L |
probably benign |
Het |
Afap1l1 |
T |
C |
18: 61,869,917 (GRCm39) |
T638A |
probably benign |
Het |
Agtr1a |
A |
C |
13: 30,565,890 (GRCm39) |
K318N |
possibly damaging |
Het |
Anks1b |
A |
G |
10: 90,777,294 (GRCm39) |
T1095A |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,559,637 (GRCm39) |
I207N |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,620,599 (GRCm39) |
L484P |
possibly damaging |
Het |
Astn2 |
C |
T |
4: 65,460,906 (GRCm39) |
S1076N |
probably benign |
Het |
Baat |
C |
A |
4: 49,490,213 (GRCm39) |
L290F |
probably benign |
Het |
Boll |
T |
C |
1: 55,343,757 (GRCm39) |
Y222C |
probably damaging |
Het |
Bphl |
A |
T |
13: 34,234,324 (GRCm39) |
I147F |
possibly damaging |
Het |
Cadps2 |
T |
G |
6: 23,409,934 (GRCm39) |
D766A |
unknown |
Het |
Cd300lb |
T |
A |
11: 114,815,858 (GRCm39) |
K210M |
probably damaging |
Het |
Cdan1 |
T |
C |
2: 120,555,185 (GRCm39) |
Q797R |
probably benign |
Het |
Celsr1 |
T |
A |
15: 85,917,209 (GRCm39) |
S255C |
probably damaging |
Het |
Cfap91 |
T |
A |
16: 38,141,963 (GRCm39) |
|
probably null |
Het |
Cip2a |
T |
A |
16: 48,826,184 (GRCm39) |
M417K |
probably benign |
Het |
Csmd1 |
G |
A |
8: 16,108,721 (GRCm39) |
S1894L |
probably damaging |
Het |
Dennd5b |
T |
A |
6: 148,922,068 (GRCm39) |
K815N |
probably benign |
Het |
Exd1 |
A |
G |
2: 119,350,620 (GRCm39) |
V547A |
probably benign |
Het |
Fbxo15 |
C |
T |
18: 84,977,243 (GRCm39) |
R52C |
probably damaging |
Het |
Fip1l1 |
A |
G |
5: 74,697,460 (GRCm39) |
|
probably null |
Het |
Flg2 |
T |
A |
3: 93,110,679 (GRCm39) |
N902K |
unknown |
Het |
Fyttd1 |
T |
A |
16: 32,704,618 (GRCm39) |
N76K |
probably benign |
Het |
Gins1 |
T |
A |
2: 150,758,086 (GRCm39) |
D57E |
probably benign |
Het |
Gm5565 |
G |
C |
5: 146,095,171 (GRCm39) |
|
probably null |
Het |
Gpsm2 |
T |
C |
3: 108,610,244 (GRCm39) |
Y72C |
probably damaging |
Het |
Hace1 |
C |
A |
10: 45,465,603 (GRCm39) |
S53* |
probably null |
Het |
Insig2 |
A |
G |
1: 121,234,666 (GRCm39) |
V188A |
possibly damaging |
Het |
Ism1 |
T |
C |
2: 139,598,963 (GRCm39) |
V312A |
probably damaging |
Het |
Jmy |
A |
T |
13: 93,609,251 (GRCm39) |
Y353N |
probably damaging |
Het |
Maz |
A |
C |
7: 126,624,725 (GRCm39) |
V265G |
probably benign |
Het |
Mtmr14 |
T |
A |
6: 113,246,509 (GRCm39) |
I426N |
probably damaging |
Het |
Or1e34 |
C |
T |
11: 73,779,101 (GRCm39) |
M32I |
probably benign |
Het |
Or5b113 |
A |
G |
19: 13,342,001 (GRCm39) |
E3G |
probably benign |
Het |
Or8k22 |
A |
G |
2: 86,163,344 (GRCm39) |
S119P |
possibly damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,278,413 (GRCm39) |
N464K |
probably damaging |
Het |
Pcdhb7 |
T |
A |
18: 37,476,440 (GRCm39) |
H525Q |
probably benign |
Het |
Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
Podn |
C |
T |
4: 107,874,899 (GRCm39) |
|
probably null |
Het |
Prim1 |
A |
G |
10: 127,858,788 (GRCm39) |
D232G |
probably null |
Het |
Prrt1 |
T |
A |
17: 34,851,161 (GRCm39) |
M283K |
possibly damaging |
Het |
Rgs9 |
A |
T |
11: 109,167,407 (GRCm39) |
I65N |
probably damaging |
Het |
Scgb2b26 |
C |
A |
7: 33,643,782 (GRCm39) |
V53L |
probably benign |
Het |
Slc12a4 |
C |
T |
8: 106,682,347 (GRCm39) |
G121S |
probably damaging |
Het |
Slc17a6 |
G |
T |
7: 51,294,766 (GRCm39) |
A158S |
probably damaging |
Het |
Slc9a9 |
C |
T |
9: 94,594,951 (GRCm39) |
H154Y |
probably benign |
Het |
Slco1a8 |
T |
C |
6: 141,934,951 (GRCm39) |
K379E |
probably damaging |
Het |
Slco2a1 |
T |
A |
9: 102,962,948 (GRCm39) |
|
probably null |
Het |
Snapc3 |
T |
C |
4: 83,353,507 (GRCm39) |
I182T |
probably benign |
Het |
Taok2 |
A |
G |
7: 126,470,260 (GRCm39) |
V856A |
probably benign |
Het |
Tep1 |
T |
A |
14: 51,103,495 (GRCm39) |
N265I |
probably damaging |
Het |
Tespa1 |
A |
T |
10: 130,197,910 (GRCm39) |
N311Y |
probably damaging |
Het |
Tpmt |
G |
A |
13: 47,194,960 (GRCm39) |
Q14* |
probably null |
Het |
Trim33 |
T |
C |
3: 103,228,952 (GRCm39) |
F353L |
possibly damaging |
Het |
Upp1 |
T |
C |
11: 9,084,743 (GRCm39) |
V154A |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,369,052 (GRCm39) |
I1747T |
|
Het |
Vmn1r47 |
T |
C |
6: 89,999,254 (GRCm39) |
S129P |
probably benign |
Het |
Vmn2r93 |
A |
G |
17: 18,524,249 (GRCm39) |
Y81C |
probably benign |
Het |
Ybx2 |
A |
T |
11: 69,831,181 (GRCm39) |
T259S |
probably benign |
Het |
Zfp536 |
T |
C |
7: 37,179,285 (GRCm39) |
T1107A |
probably benign |
Het |
Zfp583 |
C |
T |
7: 6,319,585 (GRCm39) |
A476T |
probably damaging |
Het |
|
Other mutations in Shank2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00332:Shank2
|
APN |
7 |
143,965,584 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00516:Shank2
|
APN |
7 |
143,964,512 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL00919:Shank2
|
APN |
7 |
143,965,008 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01450:Shank2
|
APN |
7 |
143,838,805 (GRCm39) |
nonsense |
probably null |
|
IGL01996:Shank2
|
APN |
7 |
143,965,230 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02217:Shank2
|
APN |
7 |
143,838,784 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL02314:Shank2
|
APN |
7 |
143,965,008 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02320:Shank2
|
APN |
7 |
143,974,681 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02948:Shank2
|
APN |
7 |
143,963,373 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02997:Shank2
|
APN |
7 |
143,635,610 (GRCm39) |
missense |
probably benign |
0.16 |
R0077:Shank2
|
UTSW |
7 |
143,746,204 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0109:Shank2
|
UTSW |
7 |
143,964,314 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0126:Shank2
|
UTSW |
7 |
143,585,092 (GRCm39) |
missense |
probably damaging |
0.99 |
R0153:Shank2
|
UTSW |
7 |
143,623,872 (GRCm39) |
missense |
probably benign |
0.04 |
R0644:Shank2
|
UTSW |
7 |
143,965,586 (GRCm39) |
missense |
probably benign |
|
R1072:Shank2
|
UTSW |
7 |
143,965,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R1245:Shank2
|
UTSW |
7 |
143,965,457 (GRCm39) |
missense |
probably benign |
0.00 |
R1424:Shank2
|
UTSW |
7 |
143,606,109 (GRCm39) |
missense |
probably damaging |
0.99 |
R1712:Shank2
|
UTSW |
7 |
143,964,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Shank2
|
UTSW |
7 |
143,733,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R1791:Shank2
|
UTSW |
7 |
143,964,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R1889:Shank2
|
UTSW |
7 |
143,740,595 (GRCm39) |
nonsense |
probably null |
|
R2074:Shank2
|
UTSW |
7 |
143,963,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R2135:Shank2
|
UTSW |
7 |
143,964,971 (GRCm39) |
missense |
probably damaging |
0.99 |
R2355:Shank2
|
UTSW |
7 |
143,611,455 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2511:Shank2
|
UTSW |
7 |
143,965,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R2517:Shank2
|
UTSW |
7 |
143,606,042 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2570:Shank2
|
UTSW |
7 |
143,622,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R2846:Shank2
|
UTSW |
7 |
143,623,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R3159:Shank2
|
UTSW |
7 |
143,635,611 (GRCm39) |
missense |
probably damaging |
0.98 |
R3881:Shank2
|
UTSW |
7 |
143,959,121 (GRCm39) |
missense |
probably benign |
|
R3907:Shank2
|
UTSW |
7 |
143,963,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R3938:Shank2
|
UTSW |
7 |
143,682,112 (GRCm39) |
missense |
probably benign |
0.20 |
R4151:Shank2
|
UTSW |
7 |
143,608,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R4369:Shank2
|
UTSW |
7 |
143,733,518 (GRCm39) |
missense |
probably damaging |
0.99 |
R4372:Shank2
|
UTSW |
7 |
143,964,599 (GRCm39) |
missense |
probably benign |
0.09 |
R4519:Shank2
|
UTSW |
7 |
143,963,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Shank2
|
UTSW |
7 |
143,965,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R4645:Shank2
|
UTSW |
7 |
143,964,159 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4647:Shank2
|
UTSW |
7 |
143,965,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R4689:Shank2
|
UTSW |
7 |
143,974,342 (GRCm39) |
missense |
probably benign |
0.07 |
R4751:Shank2
|
UTSW |
7 |
143,963,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R4816:Shank2
|
UTSW |
7 |
143,606,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R4843:Shank2
|
UTSW |
7 |
143,585,146 (GRCm39) |
missense |
probably benign |
0.17 |
R4929:Shank2
|
UTSW |
7 |
143,965,008 (GRCm39) |
missense |
probably benign |
0.01 |
R5009:Shank2
|
UTSW |
7 |
143,623,916 (GRCm39) |
missense |
probably benign |
0.00 |
R5027:Shank2
|
UTSW |
7 |
143,812,842 (GRCm39) |
nonsense |
probably null |
|
R5165:Shank2
|
UTSW |
7 |
143,963,373 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5278:Shank2
|
UTSW |
7 |
143,622,612 (GRCm39) |
critical splice donor site |
probably null |
|
R5332:Shank2
|
UTSW |
7 |
143,965,029 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5497:Shank2
|
UTSW |
7 |
143,963,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R5525:Shank2
|
UTSW |
7 |
143,623,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R5575:Shank2
|
UTSW |
7 |
143,963,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R5948:Shank2
|
UTSW |
7 |
143,960,960 (GRCm39) |
missense |
probably damaging |
0.98 |
R6024:Shank2
|
UTSW |
7 |
143,733,768 (GRCm39) |
missense |
probably benign |
0.12 |
R6306:Shank2
|
UTSW |
7 |
143,963,417 (GRCm39) |
missense |
probably benign |
0.00 |
R6317:Shank2
|
UTSW |
7 |
143,838,821 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6358:Shank2
|
UTSW |
7 |
143,585,034 (GRCm39) |
missense |
probably benign |
0.25 |
R6364:Shank2
|
UTSW |
7 |
143,964,146 (GRCm39) |
missense |
probably benign |
0.14 |
R6413:Shank2
|
UTSW |
7 |
143,963,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R6680:Shank2
|
UTSW |
7 |
143,974,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R6834:Shank2
|
UTSW |
7 |
143,963,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R6870:Shank2
|
UTSW |
7 |
143,606,197 (GRCm39) |
missense |
probably damaging |
0.99 |
R6933:Shank2
|
UTSW |
7 |
143,645,515 (GRCm39) |
missense |
probably benign |
0.19 |
R6983:Shank2
|
UTSW |
7 |
143,635,585 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7082:Shank2
|
UTSW |
7 |
143,964,096 (GRCm39) |
missense |
probably damaging |
0.99 |
R7100:Shank2
|
UTSW |
7 |
143,964,901 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7111:Shank2
|
UTSW |
7 |
143,965,289 (GRCm39) |
missense |
probably benign |
0.00 |
R7213:Shank2
|
UTSW |
7 |
143,585,146 (GRCm39) |
missense |
probably benign |
0.17 |
R7225:Shank2
|
UTSW |
7 |
143,838,762 (GRCm39) |
missense |
probably benign |
0.42 |
R7605:Shank2
|
UTSW |
7 |
143,645,516 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7909:Shank2
|
UTSW |
7 |
143,965,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R7976:Shank2
|
UTSW |
7 |
143,964,798 (GRCm39) |
missense |
probably damaging |
0.99 |
R8118:Shank2
|
UTSW |
7 |
143,963,612 (GRCm39) |
missense |
probably benign |
0.01 |
R8722:Shank2
|
UTSW |
7 |
143,729,485 (GRCm39) |
intron |
probably benign |
|
R8866:Shank2
|
UTSW |
7 |
143,964,986 (GRCm39) |
missense |
probably benign |
|
R8919:Shank2
|
UTSW |
7 |
143,965,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R8944:Shank2
|
UTSW |
7 |
143,623,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R9033:Shank2
|
UTSW |
7 |
143,965,236 (GRCm39) |
missense |
probably damaging |
0.99 |
R9091:Shank2
|
UTSW |
7 |
143,963,705 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9252:Shank2
|
UTSW |
7 |
143,622,535 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9270:Shank2
|
UTSW |
7 |
143,963,705 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9350:Shank2
|
UTSW |
7 |
143,960,945 (GRCm39) |
missense |
probably benign |
0.00 |
R9362:Shank2
|
UTSW |
7 |
143,963,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R9471:Shank2
|
UTSW |
7 |
143,964,752 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9524:Shank2
|
UTSW |
7 |
143,964,183 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9557:Shank2
|
UTSW |
7 |
143,963,847 (GRCm39) |
missense |
probably benign |
0.00 |
R9559:Shank2
|
UTSW |
7 |
143,585,041 (GRCm39) |
missense |
probably benign |
0.30 |
R9574:Shank2
|
UTSW |
7 |
143,622,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9680:Shank2
|
UTSW |
7 |
143,964,837 (GRCm39) |
missense |
probably damaging |
0.96 |
R9720:Shank2
|
UTSW |
7 |
143,682,137 (GRCm39) |
missense |
probably damaging |
0.99 |
RF009:Shank2
|
UTSW |
7 |
143,965,308 (GRCm39) |
missense |
possibly damaging |
0.81 |
Z1176:Shank2
|
UTSW |
7 |
143,682,114 (GRCm39) |
nonsense |
probably null |
|
|