Other mutations in this stock |
Total: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta1 |
T |
C |
8: 124,619,978 (GRCm39) |
M121V |
probably damaging |
Het |
AI987944 |
A |
T |
7: 41,024,627 (GRCm39) |
H120Q |
possibly damaging |
Het |
Aldh9a1 |
C |
G |
1: 167,184,119 (GRCm39) |
P205A |
probably damaging |
Het |
Ank2 |
A |
T |
3: 126,740,951 (GRCm39) |
N1644K |
unknown |
Het |
Arfgef2 |
A |
T |
2: 166,677,386 (GRCm39) |
|
probably benign |
Het |
Bpifb4 |
G |
T |
2: 153,783,817 (GRCm39) |
V54L |
probably benign |
Het |
Cacna1c |
T |
A |
6: 118,711,836 (GRCm39) |
M456L |
|
Het |
Cbln1 |
T |
C |
8: 88,198,420 (GRCm39) |
N95S |
probably benign |
Het |
Ccl11 |
G |
T |
11: 81,953,044 (GRCm39) |
R67S |
possibly damaging |
Het |
Cd200 |
G |
A |
16: 45,215,157 (GRCm39) |
R165C |
probably benign |
Het |
Cd2bp2 |
A |
T |
7: 126,793,257 (GRCm39) |
M283K |
probably damaging |
Het |
Cd86 |
G |
T |
16: 36,435,650 (GRCm39) |
L256I |
possibly damaging |
Het |
Ces2f |
T |
A |
8: 105,679,734 (GRCm39) |
F409Y |
probably benign |
Het |
Cisd3 |
A |
T |
11: 97,579,158 (GRCm39) |
Q100L |
probably damaging |
Het |
Cntnap1 |
C |
T |
11: 101,077,655 (GRCm39) |
R1106C |
probably damaging |
Het |
Col6a2 |
A |
T |
10: 76,439,433 (GRCm39) |
M777K |
probably damaging |
Het |
Cp |
A |
G |
3: 20,039,739 (GRCm39) |
Y852C |
probably damaging |
Het |
Ddx1 |
T |
C |
12: 13,277,332 (GRCm39) |
E523G |
probably damaging |
Het |
Ddx60 |
T |
A |
8: 62,398,990 (GRCm39) |
D236E |
probably benign |
Het |
Dnah9 |
A |
T |
11: 65,740,742 (GRCm39) |
F4148Y |
probably benign |
Het |
Dusp6 |
G |
T |
10: 99,099,469 (GRCm39) |
|
probably benign |
Het |
Eif2a |
C |
A |
3: 58,456,049 (GRCm39) |
Y349* |
probably null |
Het |
Enpep |
G |
A |
3: 129,065,067 (GRCm39) |
T874I |
probably damaging |
Het |
Eps15 |
A |
G |
4: 109,169,505 (GRCm39) |
D105G |
possibly damaging |
Het |
Ess2 |
A |
T |
16: 17,722,954 (GRCm39) |
M320K |
probably damaging |
Het |
Exosc10 |
G |
A |
4: 148,653,159 (GRCm39) |
|
probably null |
Het |
Fam13b |
A |
T |
18: 34,631,070 (GRCm39) |
N36K |
probably damaging |
Het |
Fanca |
T |
C |
8: 123,995,209 (GRCm39) |
D1431G |
probably benign |
Het |
Fgg |
A |
G |
3: 82,921,625 (GRCm39) |
D436G |
probably benign |
Het |
Fip1l1 |
C |
T |
5: 74,725,188 (GRCm39) |
T251I |
probably benign |
Het |
Galnt2 |
A |
G |
8: 125,032,347 (GRCm39) |
N104S |
probably damaging |
Het |
Gmip |
T |
C |
8: 70,268,748 (GRCm39) |
S458P |
possibly damaging |
Het |
Herc2 |
A |
G |
7: 55,756,144 (GRCm39) |
D728G |
probably benign |
Het |
Hif3a |
A |
G |
7: 16,788,671 (GRCm39) |
L100P |
probably damaging |
Het |
Hmox2 |
C |
G |
16: 4,583,866 (GRCm39) |
P282R |
possibly damaging |
Het |
Hook1 |
A |
T |
4: 95,880,432 (GRCm39) |
H90L |
probably benign |
Het |
Igf2bp2 |
C |
A |
16: 21,883,866 (GRCm39) |
G473C |
probably damaging |
Het |
Ip6k2 |
T |
C |
9: 108,675,379 (GRCm39) |
|
probably null |
Het |
Ipo5 |
G |
T |
14: 121,157,366 (GRCm39) |
R68L |
probably damaging |
Het |
Kif19b |
A |
G |
5: 140,455,434 (GRCm39) |
M347V |
probably damaging |
Het |
Klhdc1 |
G |
T |
12: 69,305,392 (GRCm39) |
W234L |
probably damaging |
Het |
Krt8 |
A |
G |
15: 101,909,870 (GRCm39) |
V178A |
possibly damaging |
Het |
Lgi3 |
T |
A |
14: 70,768,712 (GRCm39) |
|
probably null |
Het |
Litaf |
T |
G |
16: 10,784,421 (GRCm39) |
N30H |
probably benign |
Het |
Lman2 |
C |
A |
13: 55,510,368 (GRCm39) |
W12L |
unknown |
Het |
Macf1 |
A |
G |
4: 123,276,022 (GRCm39) |
L6182P |
probably damaging |
Het |
Magi3 |
A |
T |
3: 103,992,662 (GRCm39) |
M270K |
probably benign |
Het |
Mapre2 |
A |
T |
18: 23,886,888 (GRCm39) |
|
probably benign |
Het |
Minar1 |
T |
A |
9: 89,483,234 (GRCm39) |
E721V |
probably damaging |
Het |
Mllt10 |
T |
A |
2: 18,167,353 (GRCm39) |
V426D |
probably benign |
Het |
Mrgprf |
A |
G |
7: 144,862,046 (GRCm39) |
I203V |
probably benign |
Het |
Mrnip |
G |
A |
11: 50,067,688 (GRCm39) |
C27Y |
probably damaging |
Het |
Mrpl24 |
C |
T |
3: 87,829,701 (GRCm39) |
R96* |
probably null |
Het |
Nbas |
T |
A |
12: 13,402,875 (GRCm39) |
|
probably benign |
Het |
Nipal4 |
G |
A |
11: 46,045,470 (GRCm39) |
T131M |
possibly damaging |
Het |
Nlrp12 |
T |
C |
7: 3,289,621 (GRCm39) |
D297G |
possibly damaging |
Het |
Nol6 |
A |
C |
4: 41,121,823 (GRCm39) |
M237R |
probably benign |
Het |
Olig1 |
A |
G |
16: 91,067,027 (GRCm39) |
E88G |
probably benign |
Het |
Or1j19 |
T |
A |
2: 36,676,855 (GRCm39) |
L106* |
probably null |
Het |
Parg |
A |
G |
14: 31,931,175 (GRCm39) |
D265G |
possibly damaging |
Het |
Pcdhgb8 |
A |
T |
18: 37,895,301 (GRCm39) |
I124L |
probably damaging |
Het |
Pign |
A |
G |
1: 105,481,827 (GRCm39) |
F822L |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,071,140 (GRCm39) |
T1080A |
probably benign |
Het |
Pld4 |
A |
T |
12: 112,733,210 (GRCm39) |
Y262F |
possibly damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,693,730 (GRCm39) |
V977A |
probably benign |
Het |
Ppp6r3 |
C |
T |
19: 3,521,984 (GRCm39) |
E565K |
|
Het |
Psmg2 |
A |
G |
18: 67,787,158 (GRCm39) |
|
probably benign |
Het |
Ptcd3 |
C |
T |
6: 71,885,645 (GRCm39) |
G27D |
probably benign |
Het |
Retreg2 |
G |
T |
1: 75,119,525 (GRCm39) |
G7C |
unknown |
Het |
Rlbp1 |
A |
T |
7: 79,027,114 (GRCm39) |
F182Y |
probably benign |
Het |
Rnf148 |
G |
C |
6: 23,654,378 (GRCm39) |
S206C |
probably benign |
Het |
Sash1 |
A |
G |
10: 8,637,869 (GRCm39) |
M1T |
probably null |
Het |
Sipa1l1 |
A |
G |
12: 82,389,207 (GRCm39) |
K478E |
probably damaging |
Het |
Slitrk6 |
A |
G |
14: 110,988,801 (GRCm39) |
I302T |
probably benign |
Het |
Smc1b |
A |
G |
15: 84,950,529 (GRCm39) |
V1165A |
probably damaging |
Het |
Sncaip |
A |
T |
18: 53,048,381 (GRCm39) |
H939L |
probably benign |
Het |
Stn1 |
T |
C |
19: 47,524,709 (GRCm39) |
D27G |
probably damaging |
Het |
Sugct |
T |
G |
13: 17,427,180 (GRCm39) |
|
probably null |
Het |
Tmem259 |
A |
G |
10: 79,814,983 (GRCm39) |
S214P |
probably damaging |
Het |
Trdv4 |
G |
A |
14: 54,312,946 (GRCm39) |
G107S |
probably damaging |
Het |
Ttc3 |
C |
T |
16: 94,232,829 (GRCm39) |
L957F |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,711,471 (GRCm39) |
Y8357H |
unknown |
Het |
Twnk |
T |
C |
19: 44,996,434 (GRCm39) |
V289A |
probably benign |
Het |
Umodl1 |
A |
G |
17: 31,202,958 (GRCm39) |
D437G |
possibly damaging |
Het |
Upf1 |
T |
C |
8: 70,790,930 (GRCm39) |
T590A |
probably benign |
Het |
Vmn2r63 |
A |
T |
7: 42,576,441 (GRCm39) |
D457E |
probably benign |
Het |
Wdr82 |
A |
T |
9: 106,061,975 (GRCm39) |
T213S |
probably benign |
Het |
Zfp267 |
T |
C |
3: 36,218,255 (GRCm39) |
Y93H |
possibly damaging |
Het |
Zfp672 |
A |
T |
11: 58,220,590 (GRCm39) |
M3K |
unknown |
Het |
Zfyve26 |
A |
G |
12: 79,285,742 (GRCm39) |
V2345A |
probably benign |
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 |
|
R2513:Shank3
|
UTSW |
15 |
89,432,889 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
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 |
|
|