Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl10 |
A |
G |
2: 154,394,315 (GRCm39) |
E89G |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,419,016 (GRCm39) |
V5993E |
probably damaging |
Het |
Amdhd1 |
T |
C |
10: 93,372,936 (GRCm39) |
|
probably null |
Het |
Amph |
T |
C |
13: 19,334,011 (GRCm39) |
*691Q |
probably null |
Het |
Ankrd55 |
A |
G |
13: 112,492,644 (GRCm39) |
K272E |
probably benign |
Het |
Arhgef10l |
C |
T |
4: 140,244,126 (GRCm39) |
V838I |
possibly damaging |
Het |
Arl2 |
C |
A |
19: 6,184,774 (GRCm39) |
V160F |
probably benign |
Het |
Catsperb |
T |
C |
12: 101,412,297 (GRCm39) |
V128A |
possibly damaging |
Het |
Cdk11b |
T |
A |
4: 155,710,050 (GRCm39) |
L17H |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,480,314 (GRCm39) |
N1391K |
possibly damaging |
Het |
Cpxm2 |
C |
T |
7: 131,656,544 (GRCm39) |
A573T |
probably benign |
Het |
Cspg4b |
T |
A |
13: 113,455,501 (GRCm39) |
F516I |
|
Het |
Daxx |
T |
C |
17: 34,130,416 (GRCm39) |
S144P |
probably damaging |
Het |
Dpp3 |
T |
C |
19: 4,968,069 (GRCm39) |
D303G |
probably damaging |
Het |
Fam181a |
T |
A |
12: 103,282,132 (GRCm39) |
N12K |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,111,018 (GRCm39) |
R1015S |
unknown |
Het |
Fstl5 |
A |
G |
3: 76,443,600 (GRCm39) |
H315R |
probably benign |
Het |
Fut4 |
A |
G |
9: 14,662,689 (GRCm39) |
S202P |
probably damaging |
Het |
Gm5114 |
T |
C |
7: 39,057,708 (GRCm39) |
D637G |
possibly damaging |
Het |
Gstcd |
G |
T |
3: 132,790,704 (GRCm39) |
T21K |
probably benign |
Het |
Heca |
C |
T |
10: 17,791,121 (GRCm39) |
V312M |
probably benign |
Het |
Herpud1 |
A |
G |
8: 95,117,475 (GRCm39) |
R144G |
probably damaging |
Het |
Hycc2 |
T |
A |
1: 58,573,653 (GRCm39) |
T384S |
possibly damaging |
Het |
Ino80 |
A |
G |
2: 119,204,994 (GRCm39) |
S1511P |
possibly damaging |
Het |
Irf2bp2 |
T |
C |
8: 127,318,472 (GRCm39) |
T365A |
probably benign |
Het |
Klk1 |
G |
A |
7: 43,878,848 (GRCm39) |
G214E |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,715,701 (GRCm39) |
N1719I |
possibly damaging |
Het |
Lmna |
A |
G |
3: 88,392,297 (GRCm39) |
I365T |
probably damaging |
Het |
Lrp8 |
C |
A |
4: 107,659,647 (GRCm39) |
A13E |
possibly damaging |
Het |
Ly75 |
A |
G |
2: 60,136,778 (GRCm39) |
L1483P |
probably benign |
Het |
Maco1 |
T |
C |
4: 134,533,971 (GRCm39) |
D550G |
probably damaging |
Het |
Mid1 |
A |
G |
X: 168,768,073 (GRCm39) |
D407G |
probably benign |
Het |
Mpl |
G |
T |
4: 118,314,607 (GRCm39) |
A21E |
|
Het |
Mus81 |
C |
T |
19: 5,534,239 (GRCm39) |
G360S |
probably damaging |
Het |
Nmt2 |
T |
A |
2: 3,313,950 (GRCm39) |
S250T |
probably benign |
Het |
Nr1d1 |
C |
A |
11: 98,662,160 (GRCm39) |
R158L |
probably damaging |
Het |
Pcgf6 |
G |
A |
19: 47,039,153 (GRCm39) |
P36S |
unknown |
Het |
Pcnx2 |
G |
A |
8: 126,485,853 (GRCm39) |
A1915V |
probably benign |
Het |
Peak1 |
A |
G |
9: 56,166,677 (GRCm39) |
V417A |
probably damaging |
Het |
Phf20l1 |
A |
G |
15: 66,476,689 (GRCm39) |
N262S |
probably benign |
Het |
Plaat5 |
T |
A |
19: 7,616,923 (GRCm39) |
F313I |
unknown |
Het |
Ppp2r5d |
A |
G |
17: 46,996,608 (GRCm39) |
V355A |
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,636,897 (GRCm39) |
T395A |
probably benign |
Het |
Rims1 |
T |
A |
1: 22,416,697 (GRCm39) |
I432F |
probably benign |
Het |
Rnf123 |
C |
T |
9: 107,933,838 (GRCm39) |
C1080Y |
probably damaging |
Het |
Serpina3g |
T |
C |
12: 104,204,570 (GRCm39) |
|
probably benign |
Het |
Slc24a5 |
A |
C |
2: 124,922,591 (GRCm39) |
S118R |
probably damaging |
Het |
Smg1 |
G |
T |
7: 117,783,743 (GRCm39) |
H1048N |
unknown |
Het |
Specc1l |
T |
G |
10: 75,081,329 (GRCm39) |
S242A |
probably benign |
Het |
Tagap1 |
A |
T |
17: 7,224,111 (GRCm39) |
L195Q |
possibly damaging |
Het |
Trpc3 |
C |
A |
3: 36,704,216 (GRCm39) |
E580D |
probably benign |
Het |
Ttn |
A |
T |
2: 76,541,166 (GRCm39) |
V33940E |
probably benign |
Het |
Upp2 |
G |
T |
2: 58,681,817 (GRCm39) |
R318L |
probably benign |
Het |
Vezt |
T |
A |
10: 93,832,795 (GRCm39) |
E205D |
probably benign |
Het |
Vmn1r177 |
A |
G |
7: 23,565,535 (GRCm39) |
F114L |
probably benign |
Het |
Vmn2r53 |
C |
A |
7: 12,315,513 (GRCm39) |
E769* |
probably null |
Het |
Vnn3 |
T |
C |
10: 23,741,840 (GRCm39) |
Y382H |
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 |
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 |
R7325:Shank2
|
UTSW |
7 |
143,965,422 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
|
|