Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
T |
C |
8: 79,974,970 (GRCm39) |
T38A |
probably benign |
Het |
3425401B19Rik |
G |
T |
14: 32,385,271 (GRCm39) |
S231R |
possibly damaging |
Het |
Abi1 |
T |
C |
2: 22,847,101 (GRCm39) |
E250G |
possibly damaging |
Het |
Actl6b |
T |
A |
5: 137,553,347 (GRCm39) |
S120T |
probably damaging |
Het |
Adgrv1 |
G |
A |
13: 81,522,378 (GRCm39) |
H5920Y |
probably damaging |
Het |
Adra2c |
G |
A |
5: 35,438,299 (GRCm39) |
R357H |
probably damaging |
Het |
Ap3d1 |
T |
C |
10: 80,577,767 (GRCm39) |
D20G |
probably damaging |
Het |
Arfgef3 |
A |
T |
10: 18,506,583 (GRCm39) |
D847E |
possibly damaging |
Het |
Cacna1d |
T |
C |
14: 29,864,660 (GRCm39) |
E434G |
probably damaging |
Het |
Carm1 |
T |
C |
9: 21,497,505 (GRCm39) |
Y356H |
probably benign |
Het |
Clip1 |
T |
C |
5: 123,741,663 (GRCm39) |
K1075R |
probably damaging |
Het |
Cyp27b1 |
G |
T |
10: 126,886,918 (GRCm39) |
|
probably null |
Het |
D630045J12Rik |
A |
T |
6: 38,113,885 (GRCm39) |
V1769D |
possibly damaging |
Het |
Dchs2 |
C |
T |
3: 83,035,336 (GRCm39) |
Q28* |
probably null |
Het |
Dpp4 |
A |
G |
2: 62,215,547 (GRCm39) |
F107L |
probably benign |
Het |
Eln |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
5: 134,739,935 (GRCm39) |
|
probably benign |
Het |
Faap24 |
A |
G |
7: 35,094,485 (GRCm39) |
V105A |
probably benign |
Het |
Gabra6 |
A |
T |
11: 42,208,259 (GRCm39) |
D166E |
probably damaging |
Het |
Gfpt1 |
A |
G |
6: 87,033,126 (GRCm39) |
E117G |
probably damaging |
Het |
H2-T10 |
T |
C |
17: 36,430,269 (GRCm39) |
D224G |
probably damaging |
Het |
Hspa12a |
T |
A |
19: 58,793,865 (GRCm39) |
E332V |
probably benign |
Het |
Htr5b |
T |
A |
1: 121,438,203 (GRCm39) |
N343Y |
probably damaging |
Het |
Irf8 |
C |
A |
8: 121,466,571 (GRCm39) |
N5K |
possibly damaging |
Het |
Itgb1 |
C |
A |
8: 129,446,885 (GRCm39) |
Q467K |
probably benign |
Het |
Itpr2 |
C |
A |
6: 146,212,550 (GRCm39) |
C1522F |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,025,596 (GRCm39) |
L138I |
probably benign |
Het |
Lrrc8b |
G |
T |
5: 105,629,133 (GRCm39) |
R493L |
probably benign |
Het |
Malrd1 |
G |
T |
2: 15,628,151 (GRCm39) |
C400F |
probably damaging |
Het |
Marchf8 |
G |
A |
6: 116,383,195 (GRCm39) |
E257K |
probably benign |
Het |
Mastl |
G |
A |
2: 23,036,151 (GRCm39) |
H122Y |
probably damaging |
Het |
Mis18a |
T |
C |
16: 90,523,202 (GRCm39) |
K98R |
possibly damaging |
Het |
Msra |
A |
G |
14: 64,678,212 (GRCm39) |
V28A |
probably benign |
Het |
Mtmr7 |
A |
G |
8: 41,043,520 (GRCm39) |
V177A |
probably benign |
Het |
Nelfcd |
T |
C |
2: 174,264,999 (GRCm39) |
|
probably null |
Het |
Nemp1 |
T |
C |
10: 127,529,395 (GRCm39) |
S226P |
probably damaging |
Het |
Nmnat1 |
G |
A |
4: 149,554,099 (GRCm39) |
T147I |
probably null |
Het |
Ntng2 |
A |
G |
2: 29,118,004 (GRCm39) |
V148A |
probably benign |
Het |
Nup214 |
A |
G |
2: 31,878,245 (GRCm39) |
H304R |
possibly damaging |
Het |
Or4a2 |
T |
C |
2: 89,248,217 (GRCm39) |
Y180C |
probably damaging |
Het |
Phldb2 |
C |
A |
16: 45,621,977 (GRCm39) |
A623S |
probably damaging |
Het |
Pitrm1 |
C |
T |
13: 6,610,161 (GRCm39) |
T411I |
probably damaging |
Het |
Pkn3 |
G |
A |
2: 29,974,773 (GRCm39) |
R429Q |
probably benign |
Het |
Plcb4 |
A |
G |
2: 135,849,741 (GRCm39) |
|
probably null |
Het |
Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
Pnp |
G |
A |
14: 51,188,887 (GRCm39) |
V227I |
probably benign |
Het |
Pskh1 |
T |
C |
8: 106,639,886 (GRCm39) |
S189P |
possibly damaging |
Het |
Rbpms2 |
T |
G |
9: 65,556,632 (GRCm39) |
V24G |
probably damaging |
Het |
Robo3 |
T |
A |
9: 37,336,129 (GRCm39) |
I446L |
probably benign |
Het |
Septin8 |
A |
T |
11: 53,425,949 (GRCm39) |
K174I |
probably damaging |
Het |
Slco4a1 |
A |
G |
2: 180,106,604 (GRCm39) |
Y262C |
probably benign |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Spidr |
T |
C |
16: 15,784,512 (GRCm39) |
S519G |
probably benign |
Het |
Ssx2ip |
A |
G |
3: 146,132,193 (GRCm39) |
N218S |
possibly damaging |
Het |
Svil |
T |
C |
18: 5,056,270 (GRCm39) |
V381A |
probably benign |
Het |
Svil |
T |
C |
18: 5,062,247 (GRCm39) |
S769P |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,061,732 (GRCm39) |
C2595S |
possibly damaging |
Het |
Tiam1 |
T |
C |
16: 89,640,143 (GRCm39) |
Y858C |
probably damaging |
Het |
Tie1 |
A |
G |
4: 118,343,425 (GRCm39) |
V146A |
probably benign |
Het |
Traf3ip1 |
G |
T |
1: 91,455,361 (GRCm39) |
E578D |
probably damaging |
Het |
Trim23 |
A |
G |
13: 104,324,663 (GRCm39) |
Y247C |
probably damaging |
Het |
Tsc2 |
A |
G |
17: 24,826,729 (GRCm39) |
W896R |
probably damaging |
Het |
Vmn1r157 |
T |
C |
7: 22,461,125 (GRCm39) |
S2P |
probably benign |
Het |
Xkr4 |
T |
A |
1: 3,287,033 (GRCm39) |
T386S |
probably damaging |
Het |
Zdhhc24 |
T |
G |
19: 4,928,889 (GRCm39) |
V38G |
possibly damaging |
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 |
|
R1594:Shank1
|
UTSW |
7 |
43,976,647 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
|