Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,624,624 (GRCm39) |
F3782L |
probably benign |
Het |
Akr1d1 |
T |
C |
6: 37,535,417 (GRCm39) |
I267T |
probably benign |
Het |
Aoc1l1 |
A |
T |
6: 48,953,030 (GRCm39) |
K318N |
possibly damaging |
Het |
Arhgef5 |
T |
C |
6: 43,252,068 (GRCm39) |
S940P |
probably benign |
Het |
Art2b |
A |
G |
7: 101,229,587 (GRCm39) |
I104T |
probably benign |
Het |
Avpr1a |
A |
G |
10: 122,285,053 (GRCm39) |
Y115C |
probably damaging |
Het |
Cdc42bpg |
T |
A |
19: 6,367,526 (GRCm39) |
L995Q |
probably damaging |
Het |
Cenatac |
T |
C |
9: 44,329,249 (GRCm39) |
T13A |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,753,152 (GRCm39) |
K210E |
possibly damaging |
Het |
Cog4 |
C |
T |
8: 111,608,112 (GRCm39) |
T735I |
probably damaging |
Het |
Creb3l4 |
G |
A |
3: 90,146,006 (GRCm39) |
S206L |
probably damaging |
Het |
Csf3r |
C |
A |
4: 125,931,310 (GRCm39) |
|
probably null |
Het |
Dnah11 |
G |
T |
12: 117,994,007 (GRCm39) |
S2346R |
probably benign |
Het |
Dnai2 |
A |
T |
11: 114,643,734 (GRCm39) |
I467F |
possibly damaging |
Het |
Dpy19l4 |
A |
T |
4: 11,276,876 (GRCm39) |
M523K |
probably damaging |
Het |
Ebf3 |
T |
C |
7: 136,802,264 (GRCm39) |
D407G |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,209,908 (GRCm39) |
I991T |
probably benign |
Het |
Gcc1 |
T |
C |
6: 28,419,299 (GRCm39) |
T345A |
probably benign |
Het |
Gm1527 |
C |
T |
3: 28,974,752 (GRCm39) |
H522Y |
probably benign |
Het |
Gm4846 |
T |
A |
1: 166,317,696 (GRCm39) |
Y240F |
probably benign |
Het |
Hmgcl |
T |
C |
4: 135,682,926 (GRCm39) |
V126A |
probably benign |
Het |
Ifit1bl2 |
G |
T |
19: 34,597,438 (GRCm39) |
S59R |
probably benign |
Het |
Itga6 |
A |
G |
2: 71,617,577 (GRCm39) |
N32S |
probably benign |
Het |
Lcor |
C |
A |
19: 41,572,396 (GRCm39) |
P384T |
possibly damaging |
Het |
Macc1 |
T |
C |
12: 119,414,160 (GRCm39) |
S779P |
probably benign |
Het |
Mctp1 |
G |
T |
13: 76,533,280 (GRCm39) |
L209F |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,489,915 (GRCm39) |
N97S |
possibly damaging |
Het |
Mst1r |
T |
A |
9: 107,785,350 (GRCm39) |
V336E |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,557,967 (GRCm39) |
S2775R |
unknown |
Het |
Muc6 |
T |
A |
7: 141,227,841 (GRCm39) |
T1316S |
possibly damaging |
Het |
Myh11 |
T |
A |
16: 14,095,567 (GRCm39) |
N65I |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,762,671 (GRCm39) |
N801D |
possibly damaging |
Het |
Nkain2 |
A |
T |
10: 31,827,281 (GRCm39) |
M103K |
probably damaging |
Het |
Nkx2-2 |
T |
A |
2: 147,025,961 (GRCm39) |
Y259F |
probably benign |
Het |
Nrxn1 |
T |
C |
17: 90,897,526 (GRCm39) |
M877V |
possibly damaging |
Het |
Nxf1 |
C |
T |
19: 8,745,108 (GRCm39) |
L453F |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,255,871 (GRCm39) |
S790G |
possibly damaging |
Het |
Phf3 |
T |
C |
1: 30,902,307 (GRCm39) |
D2G |
probably damaging |
Het |
Phrf1 |
T |
C |
7: 140,838,898 (GRCm39) |
|
probably benign |
Het |
Ptpn3 |
C |
A |
4: 57,248,653 (GRCm39) |
|
probably null |
Het |
Pygl |
T |
C |
12: 70,243,841 (GRCm39) |
T625A |
probably benign |
Het |
R3hdm2 |
T |
A |
10: 127,295,349 (GRCm39) |
F239I |
probably damaging |
Het |
Sesn1 |
A |
T |
10: 41,772,196 (GRCm39) |
I242F |
probably damaging |
Het |
Skint3 |
T |
C |
4: 112,147,543 (GRCm39) |
F350S |
possibly damaging |
Het |
Slco5a1 |
T |
C |
1: 13,014,294 (GRCm39) |
Y320C |
probably damaging |
Het |
Syt11 |
A |
G |
3: 88,669,416 (GRCm39) |
S159P |
probably benign |
Het |
Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,814,498 (GRCm39) |
S1981P |
probably damaging |
Het |
Tmem200c |
A |
C |
17: 69,148,722 (GRCm39) |
D435A |
possibly damaging |
Het |
Trappc8 |
A |
G |
18: 20,966,066 (GRCm39) |
V1125A |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,644,487 (GRCm39) |
V4762A |
possibly damaging |
Het |
Unc5d |
A |
G |
8: 29,365,539 (GRCm39) |
S149P |
possibly damaging |
Het |
Usf3 |
A |
T |
16: 44,040,203 (GRCm39) |
N1561I |
probably damaging |
Het |
Wdr4 |
A |
T |
17: 31,720,272 (GRCm39) |
|
probably benign |
Het |
Wdr49 |
T |
G |
3: 75,209,133 (GRCm39) |
E612D |
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 |
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 |
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 |
|
|