Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
T |
G |
19: 57,062,309 (GRCm39) |
N384T |
probably benign |
Het |
Agap3 |
A |
G |
5: 24,706,396 (GRCm39) |
Y843C |
probably damaging |
Het |
Aldh9a1 |
T |
A |
1: 167,182,021 (GRCm39) |
V118E |
probably benign |
Het |
Arhgef26 |
T |
A |
3: 62,252,689 (GRCm39) |
S414T |
possibly damaging |
Het |
Armc9 |
T |
C |
1: 86,087,717 (GRCm39) |
Y18H |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,970,463 (GRCm39) |
|
probably null |
Het |
Casp1 |
A |
T |
9: 5,299,816 (GRCm39) |
E96D |
probably benign |
Het |
Ccdc171 |
A |
G |
4: 83,611,998 (GRCm39) |
I898V |
probably benign |
Het |
Cd79b |
T |
C |
11: 106,205,365 (GRCm39) |
I42M |
possibly damaging |
Het |
Cdca7 |
G |
A |
2: 72,315,575 (GRCm39) |
R346H |
probably damaging |
Het |
Cdh20 |
T |
C |
1: 110,065,638 (GRCm39) |
S176P |
|
Het |
Cdh23 |
T |
A |
10: 60,222,823 (GRCm39) |
D1200V |
probably damaging |
Het |
Cdkn1c |
T |
C |
7: 143,014,326 (GRCm39) |
D40G |
possibly damaging |
Het |
Ckap5 |
G |
A |
2: 91,437,917 (GRCm39) |
R1666H |
probably damaging |
Het |
Cxcl1 |
A |
G |
5: 91,039,182 (GRCm39) |
T5A |
unknown |
Het |
Dnah2 |
A |
C |
11: 69,337,579 (GRCm39) |
|
probably null |
Het |
Dnai3 |
T |
C |
3: 145,803,028 (GRCm39) |
I54M |
probably damaging |
Het |
Ephb3 |
A |
T |
16: 21,037,577 (GRCm39) |
K500* |
probably null |
Het |
Fam13c |
T |
A |
10: 70,390,336 (GRCm39) |
H533Q |
probably benign |
Het |
Fat4 |
T |
A |
3: 39,064,682 (GRCm39) |
D4879E |
probably damaging |
Het |
Grk6 |
G |
T |
13: 55,606,733 (GRCm39) |
W511L |
probably damaging |
Het |
Hivep3 |
G |
C |
4: 119,952,431 (GRCm39) |
S249T |
possibly damaging |
Het |
Iqch |
T |
A |
9: 63,419,599 (GRCm39) |
Y496F |
possibly damaging |
Het |
Itga2 |
T |
C |
13: 115,037,066 (GRCm39) |
I21V |
unknown |
Het |
Itpr2 |
A |
T |
6: 146,226,554 (GRCm39) |
C1397S |
probably damaging |
Het |
Krt86 |
A |
T |
15: 101,374,498 (GRCm39) |
Y297F |
possibly damaging |
Het |
Limch1 |
G |
T |
5: 67,182,519 (GRCm39) |
|
probably null |
Het |
Mfsd6 |
G |
T |
1: 52,748,917 (GRCm39) |
|
probably null |
Het |
Mx1 |
A |
G |
16: 97,256,376 (GRCm39) |
V181A |
probably damaging |
Het |
Nme8 |
G |
A |
13: 19,859,817 (GRCm39) |
R268W |
probably benign |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or10p1 |
T |
A |
10: 129,443,829 (GRCm39) |
I174F |
possibly damaging |
Het |
Or5d36 |
G |
A |
2: 87,901,000 (GRCm39) |
T242I |
probably damaging |
Het |
Pappa2 |
T |
A |
1: 158,784,096 (GRCm39) |
I305F |
probably benign |
Het |
Pdlim3 |
A |
G |
8: 46,370,539 (GRCm39) |
K232E |
probably damaging |
Het |
Rcn1 |
T |
C |
2: 105,219,359 (GRCm39) |
E278G |
probably damaging |
Het |
Ros1 |
T |
C |
10: 52,057,906 (GRCm39) |
D47G |
probably benign |
Het |
Sema4c |
G |
A |
1: 36,592,160 (GRCm39) |
T229M |
possibly damaging |
Het |
Serpina3j |
T |
A |
12: 104,283,792 (GRCm39) |
W297R |
probably damaging |
Het |
Serpinb11 |
A |
G |
1: 107,304,614 (GRCm39) |
E193G |
probably benign |
Het |
Siglece |
T |
C |
7: 43,309,327 (GRCm39) |
D77G |
probably damaging |
Het |
Sqstm1 |
G |
T |
11: 50,093,418 (GRCm39) |
Q327K |
probably benign |
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Styxl2 |
T |
C |
1: 165,954,723 (GRCm39) |
E9G |
possibly damaging |
Het |
Svep1 |
A |
T |
4: 58,118,207 (GRCm39) |
D838E |
possibly damaging |
Het |
Tacc2 |
G |
A |
7: 130,330,618 (GRCm39) |
A191T |
probably benign |
Het |
Tnfrsf18 |
T |
A |
4: 156,113,168 (GRCm39) |
W285R |
probably damaging |
Het |
Tspan9 |
T |
C |
6: 127,942,726 (GRCm39) |
D167G |
probably null |
Het |
Uaca |
C |
T |
9: 60,779,120 (GRCm39) |
T1169I |
probably benign |
Het |
Umod |
G |
T |
7: 119,076,369 (GRCm39) |
Y132* |
probably null |
Het |
Vmn2r31 |
A |
G |
7: 7,399,480 (GRCm39) |
F159S |
probably damaging |
Het |
Vmn2r82 |
C |
T |
10: 79,214,605 (GRCm39) |
T196I |
probably benign |
Het |
Wrap53 |
A |
T |
11: 69,453,305 (GRCm39) |
W379R |
probably damaging |
Het |
Zfp866 |
A |
T |
8: 70,219,221 (GRCm39) |
V133D |
probably benign |
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 |
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 |
|
|