Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
G |
A |
16: 30,946,205 (GRCm39) |
A264V |
probably benign |
Het |
Adam17 |
A |
G |
12: 21,390,471 (GRCm39) |
|
probably null |
Het |
Adcy10 |
A |
G |
1: 165,352,602 (GRCm39) |
N479D |
probably benign |
Het |
C2cd2l |
A |
G |
9: 44,228,070 (GRCm39) |
S84P |
probably damaging |
Het |
Capn13 |
A |
G |
17: 73,658,474 (GRCm39) |
V198A |
probably benign |
Het |
Cblc |
G |
A |
7: 19,526,471 (GRCm39) |
S206F |
probably damaging |
Het |
Ccdc7b |
A |
T |
8: 129,904,838 (GRCm39) |
T159S |
possibly damaging |
Het |
Clpx |
A |
G |
9: 65,231,552 (GRCm39) |
T546A |
probably damaging |
Het |
Col18a1 |
A |
G |
10: 76,948,870 (GRCm39) |
V214A |
possibly damaging |
Het |
Csgalnact1 |
A |
T |
8: 68,811,284 (GRCm39) |
V462E |
probably damaging |
Het |
Cts6 |
G |
A |
13: 61,346,181 (GRCm39) |
T202I |
probably damaging |
Het |
Cwf19l2 |
A |
G |
9: 3,430,973 (GRCm39) |
Y435C |
probably benign |
Het |
D630003M21Rik |
T |
A |
2: 158,053,550 (GRCm39) |
Q646L |
probably damaging |
Het |
E2f2 |
A |
G |
4: 135,914,141 (GRCm39) |
Q297R |
possibly damaging |
Het |
Eef1d |
T |
C |
15: 75,768,195 (GRCm39) |
E189G |
probably damaging |
Het |
Fam114a2 |
A |
C |
11: 57,404,066 (GRCm39) |
|
probably null |
Het |
Fam24b |
A |
C |
7: 130,928,025 (GRCm39) |
Y55D |
probably benign |
Het |
Gimap6 |
T |
C |
6: 48,679,125 (GRCm39) |
T304A |
probably benign |
Het |
Gm11232 |
T |
C |
4: 71,675,572 (GRCm39) |
E63G |
possibly damaging |
Het |
Hbs1l |
A |
G |
10: 21,227,922 (GRCm39) |
M152V |
probably benign |
Het |
Herc3 |
C |
A |
6: 58,864,569 (GRCm39) |
|
probably benign |
Het |
Hmx2 |
A |
G |
7: 131,157,231 (GRCm39) |
D115G |
probably benign |
Het |
Igsf3 |
C |
A |
3: 101,358,393 (GRCm39) |
Y761* |
probably null |
Het |
Kbtbd13 |
A |
G |
9: 65,298,901 (GRCm39) |
W12R |
probably benign |
Het |
Kif2c |
C |
A |
4: 117,035,385 (GRCm39) |
R21L |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,519,876 (GRCm39) |
N2078S |
probably benign |
Het |
Mgst3 |
T |
A |
1: 167,201,379 (GRCm39) |
Y102F |
probably damaging |
Het |
Mov10 |
G |
T |
3: 104,702,727 (GRCm39) |
T946N |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,344,450 (GRCm39) |
I2317N |
possibly damaging |
Het |
Nid2 |
T |
A |
14: 19,831,329 (GRCm39) |
I741N |
probably benign |
Het |
Nlrp9a |
G |
A |
7: 26,269,932 (GRCm39) |
W786* |
probably null |
Het |
Or8g20 |
A |
C |
9: 39,396,042 (GRCm39) |
I166S |
probably benign |
Het |
Or9a7 |
T |
C |
6: 40,521,281 (GRCm39) |
I211V |
probably benign |
Het |
Pi4ka |
G |
T |
16: 17,191,283 (GRCm39) |
|
probably benign |
Het |
Plcb4 |
A |
G |
2: 135,812,310 (GRCm39) |
|
probably benign |
Het |
Psg16 |
A |
G |
7: 16,827,748 (GRCm39) |
T144A |
probably damaging |
Het |
Sec24b |
A |
G |
3: 129,785,000 (GRCm39) |
V1002A |
probably benign |
Het |
Slc22a7 |
T |
C |
17: 46,748,957 (GRCm39) |
D120G |
possibly damaging |
Het |
Slco6c1 |
T |
A |
1: 96,990,163 (GRCm39) |
T676S |
probably benign |
Het |
Sulf2 |
A |
G |
2: 165,926,367 (GRCm39) |
|
probably benign |
Het |
Tgm1 |
T |
C |
14: 55,946,976 (GRCm39) |
D344G |
probably damaging |
Het |
Tle4 |
C |
T |
19: 14,430,970 (GRCm39) |
W604* |
probably null |
Het |
Tmco3 |
T |
C |
8: 13,342,052 (GRCm39) |
S109P |
probably damaging |
Het |
Unc13d |
T |
G |
11: 115,959,538 (GRCm39) |
D647A |
probably benign |
Het |
Usp19 |
T |
C |
9: 108,375,721 (GRCm39) |
V887A |
probably damaging |
Het |
Vmn2r49 |
A |
T |
7: 9,710,550 (GRCm39) |
D727E |
probably damaging |
Het |
Ypel1 |
A |
G |
16: 16,899,985 (GRCm39) |
H72R |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,227,456 (GRCm39) |
V2051A |
probably benign |
Het |
Zfp438 |
A |
G |
18: 5,213,515 (GRCm39) |
L481P |
possibly damaging |
Het |
Zfp850 |
C |
A |
7: 27,688,816 (GRCm39) |
R464L |
probably benign |
Het |
Zfp985 |
T |
C |
4: 147,667,537 (GRCm39) |
V135A |
probably benign |
Het |
|
Other mutations in Shank1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00970:Shank1
|
APN |
7 |
44,003,662 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01293:Shank1
|
APN |
7 |
44,003,660 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL01319:Shank1
|
APN |
7 |
44,002,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01347:Shank1
|
APN |
7 |
43,991,544 (GRCm39) |
missense |
unknown |
|
IGL01621:Shank1
|
APN |
7 |
44,001,023 (GRCm39) |
missense |
unknown |
|
IGL01621:Shank1
|
APN |
7 |
43,991,889 (GRCm39) |
missense |
unknown |
|
IGL01964:Shank1
|
APN |
7 |
43,975,102 (GRCm39) |
missense |
unknown |
|
IGL02309:Shank1
|
APN |
7 |
43,962,266 (GRCm39) |
missense |
unknown |
|
IGL02325:Shank1
|
APN |
7 |
43,976,504 (GRCm39) |
nonsense |
probably null |
|
IGL02387:Shank1
|
APN |
7 |
44,006,361 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02958:Shank1
|
APN |
7 |
44,003,897 (GRCm39) |
missense |
possibly damaging |
0.59 |
R0098:Shank1
|
UTSW |
7 |
43,962,709 (GRCm39) |
missense |
unknown |
|
R0098:Shank1
|
UTSW |
7 |
43,962,709 (GRCm39) |
missense |
unknown |
|
R0197:Shank1
|
UTSW |
7 |
44,001,718 (GRCm39) |
missense |
unknown |
|
R0326:Shank1
|
UTSW |
7 |
43,968,594 (GRCm39) |
missense |
unknown |
|
R0365:Shank1
|
UTSW |
7 |
44,003,401 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0883:Shank1
|
UTSW |
7 |
44,001,718 (GRCm39) |
missense |
unknown |
|
R1033:Shank1
|
UTSW |
7 |
44,006,220 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1390:Shank1
|
UTSW |
7 |
44,006,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R1453:Shank1
|
UTSW |
7 |
43,965,499 (GRCm39) |
missense |
unknown |
|
R1713:Shank1
|
UTSW |
7 |
43,969,161 (GRCm39) |
missense |
unknown |
|
R1783:Shank1
|
UTSW |
7 |
44,002,161 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1869:Shank1
|
UTSW |
7 |
43,991,539 (GRCm39) |
nonsense |
probably null |
|
R1870:Shank1
|
UTSW |
7 |
43,991,539 (GRCm39) |
nonsense |
probably null |
|
R1959:Shank1
|
UTSW |
7 |
43,974,801 (GRCm39) |
missense |
unknown |
|
R1962:Shank1
|
UTSW |
7 |
43,993,747 (GRCm39) |
critical splice donor site |
probably null |
|
R2406:Shank1
|
UTSW |
7 |
44,006,376 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2509:Shank1
|
UTSW |
7 |
44,001,547 (GRCm39) |
missense |
unknown |
|
R2509:Shank1
|
UTSW |
7 |
44,001,148 (GRCm39) |
missense |
unknown |
|
R3877:Shank1
|
UTSW |
7 |
43,994,416 (GRCm39) |
missense |
unknown |
|
R4041:Shank1
|
UTSW |
7 |
43,991,586 (GRCm39) |
missense |
unknown |
|
R4249:Shank1
|
UTSW |
7 |
43,969,160 (GRCm39) |
missense |
unknown |
|
R4303:Shank1
|
UTSW |
7 |
43,991,898 (GRCm39) |
missense |
unknown |
|
R4431:Shank1
|
UTSW |
7 |
43,969,076 (GRCm39) |
nonsense |
probably null |
|
R4525:Shank1
|
UTSW |
7 |
44,004,014 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4527:Shank1
|
UTSW |
7 |
44,004,014 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4642:Shank1
|
UTSW |
7 |
43,962,565 (GRCm39) |
missense |
unknown |
|
R4722:Shank1
|
UTSW |
7 |
43,962,638 (GRCm39) |
nonsense |
probably null |
|
R4805:Shank1
|
UTSW |
7 |
43,993,135 (GRCm39) |
missense |
unknown |
|
R4874:Shank1
|
UTSW |
7 |
43,965,497 (GRCm39) |
missense |
unknown |
|
R4904:Shank1
|
UTSW |
7 |
43,983,464 (GRCm39) |
intron |
probably benign |
|
R4939:Shank1
|
UTSW |
7 |
43,975,586 (GRCm39) |
missense |
unknown |
|
R5394:Shank1
|
UTSW |
7 |
44,002,075 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5410:Shank1
|
UTSW |
7 |
44,001,246 (GRCm39) |
missense |
unknown |
|
R5556:Shank1
|
UTSW |
7 |
43,993,739 (GRCm39) |
intron |
probably benign |
|
R5620:Shank1
|
UTSW |
7 |
43,962,160 (GRCm39) |
missense |
unknown |
|
R5656:Shank1
|
UTSW |
7 |
44,002,310 (GRCm39) |
missense |
probably benign |
0.33 |
R5688:Shank1
|
UTSW |
7 |
44,003,911 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5740:Shank1
|
UTSW |
7 |
44,003,164 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5801:Shank1
|
UTSW |
7 |
44,006,240 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6179:Shank1
|
UTSW |
7 |
44,006,630 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6186:Shank1
|
UTSW |
7 |
44,001,990 (GRCm39) |
missense |
probably benign |
0.18 |
R6245:Shank1
|
UTSW |
7 |
44,001,677 (GRCm39) |
missense |
unknown |
|
R6500:Shank1
|
UTSW |
7 |
43,976,645 (GRCm39) |
missense |
unknown |
|
R6602:Shank1
|
UTSW |
7 |
44,001,760 (GRCm39) |
missense |
probably benign |
0.03 |
R6655:Shank1
|
UTSW |
7 |
43,976,644 (GRCm39) |
missense |
unknown |
|
R6709:Shank1
|
UTSW |
7 |
44,003,600 (GRCm39) |
missense |
probably benign |
0.43 |
R6734:Shank1
|
UTSW |
7 |
44,003,110 (GRCm39) |
missense |
probably benign |
0.01 |
R6881:Shank1
|
UTSW |
7 |
44,001,217 (GRCm39) |
missense |
unknown |
|
R6902:Shank1
|
UTSW |
7 |
44,006,239 (GRCm39) |
missense |
probably benign |
0.39 |
R6975:Shank1
|
UTSW |
7 |
43,962,530 (GRCm39) |
splice site |
probably null |
|
R6985:Shank1
|
UTSW |
7 |
43,994,337 (GRCm39) |
missense |
unknown |
|
R7072:Shank1
|
UTSW |
7 |
43,994,370 (GRCm39) |
missense |
unknown |
|
R7116:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7117:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7199:Shank1
|
UTSW |
7 |
44,002,564 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7249:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7252:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7552:Shank1
|
UTSW |
7 |
44,002,452 (GRCm39) |
missense |
probably benign |
0.00 |
R7653:Shank1
|
UTSW |
7 |
43,969,093 (GRCm39) |
missense |
unknown |
|
R7707:Shank1
|
UTSW |
7 |
43,993,725 (GRCm39) |
missense |
unknown |
|
R7801:Shank1
|
UTSW |
7 |
44,001,022 (GRCm39) |
missense |
unknown |
|
R7804:Shank1
|
UTSW |
7 |
43,962,308 (GRCm39) |
missense |
unknown |
|
R8122:Shank1
|
UTSW |
7 |
43,983,015 (GRCm39) |
missense |
unknown |
|
R8178:Shank1
|
UTSW |
7 |
43,962,748 (GRCm39) |
critical splice donor site |
probably null |
|
R8339:Shank1
|
UTSW |
7 |
43,975,589 (GRCm39) |
missense |
unknown |
|
R8463:Shank1
|
UTSW |
7 |
44,003,605 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9005:Shank1
|
UTSW |
7 |
44,002,409 (GRCm39) |
missense |
probably benign |
0.00 |
R9023:Shank1
|
UTSW |
7 |
43,968,531 (GRCm39) |
missense |
unknown |
|
R9225:Shank1
|
UTSW |
7 |
43,983,470 (GRCm39) |
missense |
unknown |
|
R9234:Shank1
|
UTSW |
7 |
43,962,579 (GRCm39) |
missense |
unknown |
|
R9369:Shank1
|
UTSW |
7 |
44,001,478 (GRCm39) |
missense |
unknown |
|
R9432:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9433:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9434:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9467:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9474:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9475:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9476:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9477:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9519:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9544:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9545:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9598:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9633:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9698:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9699:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9701:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9755:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9783:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9784:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9800:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9802:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9803:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
X0019:Shank1
|
UTSW |
7 |
44,006,352 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Shank1
|
UTSW |
7 |
44,001,353 (GRCm39) |
missense |
unknown |
|
Z1088:Shank1
|
UTSW |
7 |
44,001,590 (GRCm39) |
missense |
unknown |
|
Z1177:Shank1
|
UTSW |
7 |
43,975,068 (GRCm39) |
missense |
unknown |
|
|