Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,547,699 (GRCm39) |
H225R |
probably damaging |
Het |
Adgrb2 |
T |
A |
4: 129,916,061 (GRCm39) |
L1451Q |
probably damaging |
Het |
Afdn |
T |
C |
17: 14,119,403 (GRCm39) |
L1713P |
probably damaging |
Het |
Agr2 |
A |
T |
12: 36,045,558 (GRCm39) |
I15F |
probably benign |
Het |
Agrn |
T |
C |
4: 156,253,468 (GRCm39) |
T1808A |
probably benign |
Het |
Akap6 |
A |
G |
12: 53,188,459 (GRCm39) |
I1958V |
probably benign |
Het |
Ankrd60 |
C |
A |
2: 173,414,284 (GRCm39) |
|
probably null |
Het |
Anpep |
A |
G |
7: 79,489,148 (GRCm39) |
|
probably null |
Het |
Apoa4 |
A |
T |
9: 46,153,591 (GRCm39) |
D64V |
possibly damaging |
Het |
Arhgef26 |
C |
A |
3: 62,247,351 (GRCm39) |
T145N |
probably benign |
Het |
Art1 |
A |
T |
7: 101,756,052 (GRCm39) |
Q81L |
probably benign |
Het |
Astl |
A |
T |
2: 127,185,903 (GRCm39) |
S71C |
probably damaging |
Het |
Atp2a1 |
A |
G |
7: 126,047,977 (GRCm39) |
I611T |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 36,997,363 (GRCm39) |
V1140E |
probably benign |
Het |
Cacna2d2 |
T |
A |
9: 107,404,632 (GRCm39) |
V1139D |
possibly damaging |
Het |
Castor1 |
G |
T |
11: 4,171,639 (GRCm39) |
A288S |
probably damaging |
Het |
Chst10 |
T |
A |
1: 38,905,112 (GRCm39) |
K198* |
probably null |
Het |
Ckmt2 |
G |
A |
13: 92,011,431 (GRCm39) |
H60Y |
possibly damaging |
Het |
Coq7 |
G |
C |
7: 118,132,469 (GRCm39) |
S2R |
possibly damaging |
Het |
Cspp1 |
T |
A |
1: 10,183,238 (GRCm39) |
D814E |
probably benign |
Het |
Cyp2c54 |
CCTCTTTCATAGCTCT |
CCTCT |
19: 40,062,176 (GRCm39) |
|
probably null |
Het |
Daam2 |
C |
A |
17: 49,771,566 (GRCm39) |
G860V |
probably damaging |
Het |
Ecm2 |
A |
T |
13: 49,668,326 (GRCm39) |
I10F |
probably benign |
Het |
Epb41l1 |
A |
T |
2: 156,348,332 (GRCm39) |
D312V |
probably damaging |
Het |
Epsti1 |
G |
A |
14: 78,168,741 (GRCm39) |
R126H |
probably damaging |
Het |
Erc1 |
A |
T |
6: 119,750,626 (GRCm39) |
Y367* |
probably null |
Het |
Erh |
T |
A |
12: 80,684,352 (GRCm39) |
R42W |
probably damaging |
Het |
Fam124a |
C |
T |
14: 62,843,325 (GRCm39) |
Q278* |
probably null |
Het |
Fbxo3 |
T |
A |
2: 103,885,286 (GRCm39) |
L385Q |
probably damaging |
Het |
Fbxo31 |
T |
A |
8: 122,285,794 (GRCm39) |
T219S |
probably damaging |
Het |
Fstl5 |
T |
G |
3: 76,555,725 (GRCm39) |
V534G |
possibly damaging |
Het |
Gbp2b |
A |
T |
3: 142,323,925 (GRCm39) |
I577F |
probably benign |
Het |
Gbp8 |
A |
T |
5: 105,198,783 (GRCm39) |
L44* |
probably null |
Het |
Gck |
C |
T |
11: 5,860,301 (GRCm39) |
A114T |
probably benign |
Het |
Gtf2i |
A |
G |
5: 134,284,688 (GRCm39) |
V537A |
possibly damaging |
Het |
Iqcm |
C |
A |
8: 76,489,733 (GRCm39) |
H400Q |
probably damaging |
Het |
Iqcn |
T |
C |
8: 71,163,555 (GRCm39) |
V916A |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,363,589 (GRCm39) |
L737P |
probably damaging |
Het |
Jakmip1 |
A |
G |
5: 37,258,116 (GRCm39) |
E254G |
probably damaging |
Het |
Kif15 |
A |
T |
9: 122,836,490 (GRCm39) |
R1095W |
possibly damaging |
Het |
Klhdc8a |
G |
A |
1: 132,230,846 (GRCm39) |
R237Q |
probably benign |
Het |
Klhl38 |
T |
C |
15: 58,186,258 (GRCm39) |
E157G |
probably benign |
Het |
Klrk1 |
T |
A |
6: 129,589,786 (GRCm39) |
N221I |
probably benign |
Het |
Lhx8 |
A |
T |
3: 154,012,576 (GRCm39) |
H345Q |
probably damaging |
Het |
Lims1 |
T |
A |
10: 58,245,494 (GRCm39) |
N174K |
probably benign |
Het |
Madd |
T |
A |
2: 90,997,406 (GRCm39) |
Q754L |
probably benign |
Het |
Mau2 |
T |
C |
8: 70,472,440 (GRCm39) |
D581G |
probably damaging |
Het |
Miga1 |
A |
T |
3: 151,982,393 (GRCm39) |
I561N |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mob3c |
T |
C |
4: 115,688,884 (GRCm39) |
V139A |
probably benign |
Het |
Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
Nalf1 |
T |
C |
8: 9,257,892 (GRCm39) |
T419A |
probably benign |
Het |
Ncapd2 |
C |
T |
6: 125,157,989 (GRCm39) |
V380I |
probably damaging |
Het |
Nes |
G |
A |
3: 87,884,315 (GRCm39) |
R858K |
probably benign |
Het |
Nphp3 |
T |
C |
9: 103,909,162 (GRCm39) |
S791P |
probably benign |
Het |
Nup210 |
T |
C |
6: 91,047,215 (GRCm39) |
T496A |
probably benign |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or4c100 |
C |
T |
2: 88,356,215 (GRCm39) |
T96I |
probably benign |
Het |
Or6y1 |
T |
A |
1: 174,277,162 (GRCm39) |
S324R |
unknown |
Het |
Or8b50 |
T |
A |
9: 38,518,685 (GRCm39) |
M308K |
probably benign |
Het |
Ovgp1 |
T |
A |
3: 105,883,339 (GRCm39) |
S105T |
probably benign |
Het |
Pbld2 |
T |
A |
10: 62,883,771 (GRCm39) |
C79S |
probably damaging |
Het |
Pik3cd |
T |
A |
4: 149,744,323 (GRCm39) |
M143L |
possibly damaging |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Poln |
A |
G |
5: 34,280,016 (GRCm39) |
V282A |
probably benign |
Het |
Ppp1r11 |
T |
C |
17: 37,262,338 (GRCm39) |
T21A |
probably damaging |
Het |
Prpf8 |
T |
A |
11: 75,393,368 (GRCm39) |
I1664N |
possibly damaging |
Het |
Prr29 |
C |
T |
11: 106,267,738 (GRCm39) |
A161V |
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,638,931 (GRCm39) |
D292G |
probably damaging |
Het |
Rnf25 |
T |
C |
1: 74,633,123 (GRCm39) |
T411A |
probably damaging |
Het |
Rraga |
C |
T |
4: 86,494,217 (GRCm39) |
T21I |
probably damaging |
Het |
Setdb2 |
T |
A |
14: 59,639,824 (GRCm39) |
Y673F |
probably damaging |
Het |
Sf3a1 |
C |
T |
11: 4,117,787 (GRCm39) |
T183I |
probably damaging |
Het |
Slc30a5 |
A |
G |
13: 100,950,189 (GRCm39) |
|
probably null |
Het |
Slc6a18 |
T |
C |
13: 73,813,745 (GRCm39) |
S523G |
probably benign |
Het |
Spaca1 |
C |
T |
4: 34,044,207 (GRCm39) |
V96I |
probably damaging |
Het |
Sycp2 |
C |
T |
2: 178,016,378 (GRCm39) |
A695T |
probably benign |
Het |
Tnrc18 |
C |
A |
5: 142,717,807 (GRCm39) |
G2216C |
unknown |
Het |
Trak2 |
T |
C |
1: 58,985,447 (GRCm39) |
N17S |
probably benign |
Het |
Ttn |
T |
A |
2: 76,708,776 (GRCm39) |
N8792I |
unknown |
Het |
Ttyh1 |
T |
C |
7: 4,125,540 (GRCm39) |
V64A |
probably benign |
Het |
Usb1 |
T |
A |
8: 96,060,041 (GRCm39) |
S50R |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,689,570 (GRCm39) |
I5044N |
probably damaging |
Het |
Vmn1r84 |
A |
T |
7: 12,095,935 (GRCm39) |
F253I |
possibly damaging |
Het |
Vmn2r99 |
T |
C |
17: 19,600,302 (GRCm39) |
I442T |
probably benign |
Het |
Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
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 |
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 |
|
|