Other mutations in this stock |
Total: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,383,809 (GRCm39) |
T719A |
possibly damaging |
Het |
Abcc1 |
A |
G |
16: 14,290,873 (GRCm39) |
|
probably null |
Het |
Aftph |
C |
T |
11: 20,658,676 (GRCm39) |
|
probably null |
Het |
Als2 |
C |
A |
1: 59,254,276 (GRCm39) |
K360N |
probably benign |
Het |
Atg2a |
T |
A |
19: 6,308,076 (GRCm39) |
|
probably null |
Het |
Axl |
T |
C |
7: 25,486,941 (GRCm39) |
D22G |
probably benign |
Het |
Baiap2 |
G |
A |
11: 119,890,052 (GRCm39) |
A438T |
probably benign |
Het |
Bean1 |
G |
C |
8: 104,908,643 (GRCm39) |
A7P |
probably benign |
Het |
Birc6 |
C |
G |
17: 74,954,724 (GRCm39) |
P3431R |
probably damaging |
Het |
Camk1d |
A |
G |
2: 5,719,047 (GRCm39) |
M1T |
probably null |
Het |
Carmil3 |
T |
C |
14: 55,741,295 (GRCm39) |
Y1027H |
probably damaging |
Het |
Ccdc6 |
G |
A |
10: 70,023,658 (GRCm39) |
|
probably benign |
Het |
Cemip |
C |
A |
7: 83,591,233 (GRCm39) |
V1280L |
probably benign |
Het |
Cfap58 |
C |
A |
19: 47,950,981 (GRCm39) |
N447K |
probably benign |
Het |
Chd3 |
A |
G |
11: 69,251,471 (GRCm39) |
L520P |
probably damaging |
Het |
Col1a2 |
T |
A |
6: 4,531,223 (GRCm39) |
|
probably null |
Het |
Cpne7 |
A |
C |
8: 123,844,406 (GRCm39) |
|
probably null |
Het |
Ctla4 |
T |
C |
1: 60,951,723 (GRCm39) |
V84A |
probably damaging |
Het |
Dap3 |
A |
G |
3: 88,835,565 (GRCm39) |
V263A |
probably benign |
Het |
Dhx57 |
T |
A |
17: 80,549,378 (GRCm39) |
|
probably null |
Het |
Dlg5 |
C |
A |
14: 24,214,593 (GRCm39) |
K663N |
probably damaging |
Het |
Dsg3 |
C |
A |
18: 20,656,719 (GRCm39) |
F196L |
possibly damaging |
Het |
Eif2ak4 |
C |
A |
2: 118,257,064 (GRCm39) |
D402E |
probably damaging |
Het |
Fance |
T |
C |
17: 28,537,068 (GRCm39) |
V24A |
probably benign |
Het |
Fasn |
A |
T |
11: 120,705,574 (GRCm39) |
L1149Q |
probably damaging |
Het |
Fcgbpl1 |
C |
G |
7: 27,831,060 (GRCm39) |
S91C |
probably damaging |
Het |
Flg |
T |
A |
3: 93,187,093 (GRCm39) |
S182T |
possibly damaging |
Het |
Gm128 |
T |
A |
3: 95,147,293 (GRCm39) |
S334C |
possibly damaging |
Het |
Gm3727 |
A |
C |
14: 7,264,561 (GRCm38) |
H31Q |
probably damaging |
Het |
Gm4841 |
T |
G |
18: 60,403,977 (GRCm39) |
T39P |
probably damaging |
Het |
Golgb1 |
G |
T |
16: 36,735,513 (GRCm39) |
V1587L |
possibly damaging |
Het |
Golm1 |
G |
A |
13: 59,790,072 (GRCm39) |
P243S |
probably benign |
Het |
Gstcd |
C |
A |
3: 132,788,081 (GRCm39) |
A206S |
possibly damaging |
Het |
Gstcd |
C |
A |
3: 132,788,082 (GRCm39) |
K205N |
possibly damaging |
Het |
Gtf3c1 |
A |
G |
7: 125,280,345 (GRCm39) |
V355A |
probably benign |
Het |
Hhatl |
T |
C |
9: 121,618,236 (GRCm39) |
D173G |
probably benign |
Het |
Kcnu1 |
T |
A |
8: 26,395,994 (GRCm39) |
C660S |
probably benign |
Het |
Kctd8 |
T |
C |
5: 69,267,988 (GRCm39) |
D374G |
probably benign |
Het |
Kif21a |
T |
C |
15: 90,878,594 (GRCm39) |
I229V |
possibly damaging |
Het |
L3mbtl1 |
A |
T |
2: 162,809,505 (GRCm39) |
I702F |
probably benign |
Het |
Lce1d |
T |
C |
3: 92,593,066 (GRCm39) |
|
probably benign |
Het |
Lrig1 |
C |
T |
6: 94,594,347 (GRCm39) |
|
probably null |
Het |
Lrp12 |
A |
T |
15: 39,739,507 (GRCm39) |
D563E |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,336,718 (GRCm39) |
|
probably null |
Het |
Map3k5 |
G |
A |
10: 19,970,201 (GRCm39) |
V703I |
possibly damaging |
Het |
Mecr |
A |
G |
4: 131,581,076 (GRCm39) |
R110G |
probably benign |
Het |
Mtrr |
T |
A |
13: 68,715,092 (GRCm39) |
K445* |
probably null |
Het |
Nanos1 |
T |
A |
19: 60,744,990 (GRCm39) |
L96Q |
probably benign |
Het |
Or13a24 |
T |
G |
7: 140,154,069 (GRCm39) |
M1R |
probably null |
Het |
Or51t4 |
T |
A |
7: 102,598,700 (GRCm39) |
F333I |
probably benign |
Het |
Or6c214 |
T |
A |
10: 129,591,021 (GRCm39) |
L99F |
probably damaging |
Het |
Otog |
T |
C |
7: 45,955,014 (GRCm39) |
|
probably null |
Het |
Pcdhb3 |
G |
T |
18: 37,434,294 (GRCm39) |
V87F |
probably benign |
Het |
Pcdhb3 |
T |
A |
18: 37,434,292 (GRCm39) |
L86* |
probably null |
Het |
Pcdhb3 |
A |
T |
18: 37,434,293 (GRCm39) |
L86F |
probably damaging |
Het |
Pdgfd |
A |
G |
9: 6,359,894 (GRCm39) |
K322E |
probably damaging |
Het |
Picalm |
T |
C |
7: 89,846,217 (GRCm39) |
S648P |
probably damaging |
Het |
Pigr |
T |
C |
1: 130,774,357 (GRCm39) |
S446P |
possibly damaging |
Het |
Pik3cb |
A |
C |
9: 98,943,895 (GRCm39) |
L636W |
probably damaging |
Het |
Pla2g2f |
A |
T |
4: 138,481,473 (GRCm39) |
L92Q |
probably damaging |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Prkar2b |
C |
T |
12: 32,025,928 (GRCm39) |
V191I |
possibly damaging |
Het |
Prune1 |
C |
A |
3: 95,165,430 (GRCm39) |
A281S |
probably benign |
Het |
Ptges3l |
A |
T |
11: 101,314,868 (GRCm39) |
C42S |
possibly damaging |
Het |
Reg3b |
A |
T |
6: 78,348,802 (GRCm39) |
I33L |
probably benign |
Het |
Rel |
A |
G |
11: 23,695,823 (GRCm39) |
I188T |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ripor1 |
G |
T |
8: 106,344,254 (GRCm39) |
V463L |
probably benign |
Het |
Rrm1 |
T |
A |
7: 102,109,896 (GRCm39) |
D510E |
probably damaging |
Het |
Setd7 |
A |
G |
3: 51,440,436 (GRCm39) |
S202P |
probably damaging |
Het |
Slc30a1 |
A |
T |
1: 191,639,674 (GRCm39) |
T186S |
possibly damaging |
Het |
Slc4a4 |
G |
A |
5: 89,304,257 (GRCm39) |
V523I |
probably benign |
Het |
Slc9a2 |
T |
A |
1: 40,781,768 (GRCm39) |
|
probably null |
Het |
Smg6 |
A |
G |
11: 74,820,502 (GRCm39) |
T258A |
probably damaging |
Het |
Sptlc1 |
C |
T |
13: 53,491,676 (GRCm39) |
D408N |
possibly damaging |
Het |
Tasor2 |
G |
T |
13: 3,632,150 (GRCm39) |
L784I |
possibly damaging |
Het |
Tbl3 |
T |
C |
17: 24,923,524 (GRCm39) |
|
probably null |
Het |
Tdo2 |
T |
C |
3: 81,876,812 (GRCm39) |
D139G |
possibly damaging |
Het |
Ticam1 |
T |
A |
17: 56,578,612 (GRCm39) |
H161L |
possibly damaging |
Het |
Tnfaip3 |
T |
A |
10: 18,881,407 (GRCm39) |
D293V |
probably benign |
Het |
Trim72 |
G |
A |
7: 127,603,878 (GRCm39) |
V75M |
possibly damaging |
Het |
Trip11 |
T |
A |
12: 101,803,986 (GRCm39) |
N1632I |
possibly damaging |
Het |
Tspan18 |
A |
T |
2: 93,050,440 (GRCm39) |
M61K |
possibly damaging |
Het |
Tuba8 |
A |
T |
6: 121,202,932 (GRCm39) |
E415V |
probably damaging |
Het |
Ung |
A |
G |
5: 114,275,253 (GRCm39) |
H214R |
probably benign |
Het |
Uqcrc1 |
T |
C |
9: 108,765,836 (GRCm39) |
L17P |
probably damaging |
Het |
Usp24 |
A |
G |
4: 106,236,602 (GRCm39) |
|
probably null |
Het |
Vps39 |
A |
C |
2: 120,169,268 (GRCm39) |
Y245D |
probably damaging |
Het |
Whrn |
T |
A |
4: 63,353,649 (GRCm39) |
T373S |
probably benign |
Het |
Zc2hc1a |
C |
T |
3: 7,581,596 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Shank3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01070:Shank3
|
APN |
15 |
89,433,619 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01469:Shank3
|
APN |
15 |
89,405,477 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01886:Shank3
|
APN |
15 |
89,415,866 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01934:Shank3
|
APN |
15 |
89,434,049 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01989:Shank3
|
APN |
15 |
89,387,502 (GRCm39) |
splice site |
probably benign |
|
IGL02004:Shank3
|
APN |
15 |
89,387,502 (GRCm39) |
splice site |
probably benign |
|
IGL02085:Shank3
|
APN |
15 |
89,388,118 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02195:Shank3
|
APN |
15 |
89,432,321 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02354:Shank3
|
APN |
15 |
89,388,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02361:Shank3
|
APN |
15 |
89,388,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02541:Shank3
|
APN |
15 |
89,385,613 (GRCm39) |
missense |
probably damaging |
1.00 |
G1citation:Shank3
|
UTSW |
15 |
89,415,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R0294:Shank3
|
UTSW |
15 |
89,416,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R0468:Shank3
|
UTSW |
15 |
89,433,478 (GRCm39) |
missense |
probably benign |
0.28 |
R0483:Shank3
|
UTSW |
15 |
89,427,442 (GRCm39) |
splice site |
probably benign |
|
R0605:Shank3
|
UTSW |
15 |
89,408,350 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0675:Shank3
|
UTSW |
15 |
89,415,591 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1082:Shank3
|
UTSW |
15 |
89,433,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R1576:Shank3
|
UTSW |
15 |
89,387,866 (GRCm39) |
missense |
probably benign |
0.11 |
R1702:Shank3
|
UTSW |
15 |
89,384,099 (GRCm39) |
missense |
probably damaging |
0.99 |
R1726:Shank3
|
UTSW |
15 |
89,442,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R1958:Shank3
|
UTSW |
15 |
89,387,351 (GRCm39) |
missense |
probably damaging |
0.99 |
R1961:Shank3
|
UTSW |
15 |
89,442,167 (GRCm39) |
missense |
possibly damaging |
0.60 |
R2420:Shank3
|
UTSW |
15 |
89,405,413 (GRCm39) |
nonsense |
probably null |
|
R3917:Shank3
|
UTSW |
15 |
89,387,587 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4163:Shank3
|
UTSW |
15 |
89,433,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R4205:Shank3
|
UTSW |
15 |
89,387,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R4434:Shank3
|
UTSW |
15 |
89,387,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Shank3
|
UTSW |
15 |
89,384,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R4816:Shank3
|
UTSW |
15 |
89,427,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R4828:Shank3
|
UTSW |
15 |
89,384,402 (GRCm39) |
intron |
probably benign |
|
R4911:Shank3
|
UTSW |
15 |
89,388,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R4997:Shank3
|
UTSW |
15 |
89,433,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R5213:Shank3
|
UTSW |
15 |
89,417,481 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5338:Shank3
|
UTSW |
15 |
89,415,914 (GRCm39) |
splice site |
probably null |
|
R5494:Shank3
|
UTSW |
15 |
89,432,441 (GRCm39) |
missense |
probably damaging |
0.99 |
R5543:Shank3
|
UTSW |
15 |
89,416,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R5654:Shank3
|
UTSW |
15 |
89,405,529 (GRCm39) |
missense |
probably benign |
0.07 |
R5900:Shank3
|
UTSW |
15 |
89,387,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R5906:Shank3
|
UTSW |
15 |
89,433,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R6385:Shank3
|
UTSW |
15 |
89,405,578 (GRCm39) |
critical splice donor site |
probably null |
|
R6432:Shank3
|
UTSW |
15 |
89,387,616 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6724:Shank3
|
UTSW |
15 |
89,416,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R6822:Shank3
|
UTSW |
15 |
89,415,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R6845:Shank3
|
UTSW |
15 |
89,432,528 (GRCm39) |
missense |
probably benign |
0.00 |
R7088:Shank3
|
UTSW |
15 |
89,387,728 (GRCm39) |
splice site |
probably null |
|
R7390:Shank3
|
UTSW |
15 |
89,433,515 (GRCm39) |
missense |
probably benign |
0.05 |
R7808:Shank3
|
UTSW |
15 |
89,433,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R7862:Shank3
|
UTSW |
15 |
89,389,648 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8039:Shank3
|
UTSW |
15 |
89,389,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R8090:Shank3
|
UTSW |
15 |
89,389,661 (GRCm39) |
critical splice donor site |
probably null |
|
R8170:Shank3
|
UTSW |
15 |
89,433,043 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8189:Shank3
|
UTSW |
15 |
89,433,439 (GRCm39) |
missense |
probably benign |
|
R8246:Shank3
|
UTSW |
15 |
89,417,549 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8515:Shank3
|
UTSW |
15 |
89,387,775 (GRCm39) |
nonsense |
probably null |
|
R8525:Shank3
|
UTSW |
15 |
89,431,973 (GRCm39) |
missense |
probably damaging |
0.99 |
R8537:Shank3
|
UTSW |
15 |
89,416,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R8673:Shank3
|
UTSW |
15 |
89,433,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R8826:Shank3
|
UTSW |
15 |
89,433,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R8932:Shank3
|
UTSW |
15 |
89,432,986 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8954:Shank3
|
UTSW |
15 |
89,433,431 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8976:Shank3
|
UTSW |
15 |
89,442,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R8992:Shank3
|
UTSW |
15 |
89,432,888 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8994:Shank3
|
UTSW |
15 |
89,417,416 (GRCm39) |
missense |
probably benign |
0.27 |
R9130:Shank3
|
UTSW |
15 |
89,442,419 (GRCm39) |
missense |
probably benign |
0.19 |
R9258:Shank3
|
UTSW |
15 |
89,388,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R9645:Shank3
|
UTSW |
15 |
89,409,453 (GRCm39) |
missense |
possibly damaging |
0.96 |
RF020:Shank3
|
UTSW |
15 |
89,384,593 (GRCm39) |
missense |
probably benign |
0.20 |
Z1177:Shank3
|
UTSW |
15 |
89,442,525 (GRCm39) |
makesense |
probably null |
|
|