Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
A |
G |
9: 44,193,125 (GRCm39) |
F111S |
probably benign |
Het |
Afg1l |
C |
A |
10: 42,330,374 (GRCm39) |
V98F |
possibly damaging |
Het |
Agk |
T |
A |
6: 40,353,210 (GRCm39) |
D191E |
possibly damaging |
Het |
Akap5 |
A |
G |
12: 76,375,629 (GRCm39) |
K354E |
possibly damaging |
Het |
Aplp2 |
A |
T |
9: 31,078,979 (GRCm39) |
M323K |
possibly damaging |
Het |
Arhgap23 |
T |
C |
11: 97,356,827 (GRCm39) |
|
probably benign |
Het |
Asl |
A |
G |
5: 130,048,622 (GRCm39) |
Y30H |
probably damaging |
Het |
Asxl3 |
T |
A |
18: 22,655,510 (GRCm39) |
H1173Q |
probably benign |
Het |
Celsr2 |
C |
T |
3: 108,303,327 (GRCm39) |
R2472H |
probably damaging |
Het |
Clip1 |
T |
A |
5: 123,755,763 (GRCm39) |
H950L |
probably damaging |
Het |
Cx3cl1 |
A |
T |
8: 95,506,660 (GRCm39) |
T222S |
probably benign |
Het |
Cyp4a14 |
T |
A |
4: 115,348,829 (GRCm39) |
N273Y |
probably damaging |
Het |
Ddx52 |
T |
A |
11: 83,839,304 (GRCm39) |
S214T |
probably damaging |
Het |
Dennd2d |
T |
A |
3: 106,402,284 (GRCm39) |
M318K |
probably benign |
Het |
Dock3 |
A |
T |
9: 106,790,351 (GRCm39) |
D1E |
probably damaging |
Het |
Farp1 |
C |
T |
14: 121,480,928 (GRCm39) |
T443I |
probably benign |
Het |
Gm2381 |
C |
T |
7: 42,472,033 (GRCm39) |
|
probably benign |
Het |
Gpr87 |
T |
A |
3: 59,086,975 (GRCm39) |
I178F |
possibly damaging |
Het |
Grin2b |
C |
T |
6: 135,713,470 (GRCm39) |
E804K |
probably damaging |
Het |
Gtf2h1 |
T |
C |
7: 46,465,812 (GRCm39) |
L421P |
probably damaging |
Het |
Haghl |
T |
G |
17: 26,003,638 (GRCm39) |
H56P |
probably damaging |
Het |
Heatr3 |
T |
C |
8: 88,893,700 (GRCm39) |
L489P |
probably damaging |
Het |
Ighv6-6 |
A |
T |
12: 114,398,534 (GRCm39) |
H77Q |
probably benign |
Het |
Kdm2b |
A |
G |
5: 123,085,883 (GRCm39) |
S243P |
probably damaging |
Het |
Lamc3 |
T |
C |
2: 31,804,616 (GRCm39) |
|
probably benign |
Het |
Lgr4 |
T |
C |
2: 109,842,880 (GRCm39) |
|
probably benign |
Het |
Lhx3 |
T |
C |
2: 26,091,385 (GRCm39) |
Q308R |
probably benign |
Het |
Lonp2 |
G |
A |
8: 87,361,491 (GRCm39) |
E223K |
probably damaging |
Het |
Lta4h |
T |
C |
10: 93,310,352 (GRCm39) |
F407L |
probably damaging |
Het |
Mndal |
C |
T |
1: 173,702,021 (GRCm39) |
G94R |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,943,175 (GRCm39) |
N101S |
probably damaging |
Het |
Or14c41 |
T |
C |
7: 86,234,705 (GRCm39) |
V74A |
possibly damaging |
Het |
Or51af1 |
A |
T |
7: 103,141,206 (GRCm39) |
I293K |
probably damaging |
Het |
Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
Or8b48 |
A |
G |
9: 38,492,729 (GRCm39) |
N52S |
probably damaging |
Het |
Or8d23 |
A |
G |
9: 38,842,348 (GRCm39) |
N294D |
probably damaging |
Het |
Pknox1 |
T |
G |
17: 31,809,683 (GRCm39) |
F96V |
probably benign |
Het |
Psg25 |
T |
G |
7: 18,260,349 (GRCm39) |
Q183P |
probably damaging |
Het |
Ptgs2 |
A |
G |
1: 149,981,307 (GRCm39) |
Y530C |
probably damaging |
Het |
Sema3e |
T |
A |
5: 14,274,404 (GRCm39) |
D218E |
probably damaging |
Het |
Sidt1 |
T |
C |
16: 44,075,343 (GRCm39) |
I672V |
probably benign |
Het |
Skic3 |
A |
G |
13: 76,275,166 (GRCm39) |
T238A |
possibly damaging |
Het |
Slco1b2 |
T |
A |
6: 141,618,007 (GRCm39) |
S486T |
probably damaging |
Het |
Smchd1 |
T |
C |
17: 71,750,898 (GRCm39) |
H340R |
probably benign |
Het |
Smoc2 |
C |
A |
17: 14,595,789 (GRCm39) |
|
probably benign |
Het |
Snapc1 |
A |
G |
12: 74,014,801 (GRCm39) |
Y102C |
probably damaging |
Het |
Spo11 |
A |
G |
2: 172,821,744 (GRCm39) |
R20G |
probably damaging |
Het |
Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
Tmem229b-ps |
T |
C |
10: 53,351,466 (GRCm39) |
|
noncoding transcript |
Het |
Trim12c |
T |
A |
7: 103,994,163 (GRCm39) |
E230D |
possibly damaging |
Het |
Ttc17 |
G |
T |
2: 94,173,006 (GRCm39) |
N796K |
probably benign |
Het |
Ttn |
A |
G |
2: 76,709,443 (GRCm39) |
|
probably benign |
Het |
Ublcp1 |
A |
T |
11: 44,349,155 (GRCm39) |
|
probably benign |
Het |
Usf3 |
C |
T |
16: 44,021,026 (GRCm39) |
T11M |
probably benign |
Het |
Vmn2r115 |
T |
A |
17: 23,564,113 (GRCm39) |
M95K |
probably benign |
Het |
Wapl |
A |
G |
14: 34,466,820 (GRCm39) |
T1160A |
probably 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 |
|
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 |
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 |
|
|