Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acads |
A |
T |
5: 115,250,013 (GRCm39) |
I233N |
probably damaging |
Het |
Agtpbp1 |
C |
T |
13: 59,648,303 (GRCm39) |
G393S |
probably benign |
Het |
Ahctf1 |
T |
C |
1: 179,603,580 (GRCm39) |
D822G |
probably benign |
Het |
Alpk1 |
T |
C |
3: 127,473,552 (GRCm39) |
N817S |
probably benign |
Het |
Aoah |
G |
A |
13: 21,101,295 (GRCm39) |
E272K |
probably damaging |
Het |
Aoc1 |
A |
G |
6: 48,882,829 (GRCm39) |
D235G |
possibly damaging |
Het |
Ccdc186 |
G |
T |
19: 56,801,788 (GRCm39) |
Q110K |
probably benign |
Het |
Celsr2 |
G |
T |
3: 108,320,187 (GRCm39) |
T875K |
probably damaging |
Het |
Chdh |
T |
C |
14: 29,754,782 (GRCm39) |
V264A |
probably benign |
Het |
Col15a1 |
A |
G |
4: 47,289,364 (GRCm39) |
T854A |
probably damaging |
Het |
Cuedc1 |
A |
T |
11: 88,060,999 (GRCm39) |
E114V |
probably null |
Het |
Ddx23 |
A |
T |
15: 98,545,074 (GRCm39) |
D677E |
possibly damaging |
Het |
Ddx24 |
A |
G |
12: 103,382,525 (GRCm39) |
V640A |
probably damaging |
Het |
Ddx25 |
T |
C |
9: 35,465,804 (GRCm39) |
|
probably benign |
Het |
Ddx43 |
T |
C |
9: 78,309,772 (GRCm39) |
|
probably benign |
Het |
Diaph1 |
T |
C |
18: 37,986,653 (GRCm39) |
K1111E |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,725,043 (GRCm39) |
D4370G |
probably damaging |
Het |
Eef1e1 |
A |
T |
13: 38,840,012 (GRCm39) |
|
probably benign |
Het |
Egfem1 |
T |
C |
3: 29,206,066 (GRCm39) |
I101T |
probably benign |
Het |
Gpr142 |
G |
T |
11: 114,696,947 (GRCm39) |
L164F |
probably damaging |
Het |
Gtf2h5 |
T |
A |
17: 6,131,106 (GRCm39) |
|
probably null |
Het |
Hap1 |
T |
A |
11: 100,245,190 (GRCm39) |
|
probably null |
Het |
Hemgn |
T |
G |
4: 46,396,085 (GRCm39) |
I384L |
probably benign |
Het |
Ints3 |
A |
T |
3: 90,311,349 (GRCm39) |
H419Q |
probably damaging |
Het |
Itgb2 |
T |
C |
10: 77,383,026 (GRCm39) |
L132P |
probably damaging |
Het |
Krtap29-1 |
C |
T |
11: 99,869,159 (GRCm39) |
V241M |
probably damaging |
Het |
Lrguk |
A |
G |
6: 34,106,114 (GRCm39) |
E713G |
probably benign |
Het |
Lrrk2 |
G |
T |
15: 91,610,511 (GRCm39) |
|
probably null |
Het |
Nlrp14 |
A |
G |
7: 106,781,523 (GRCm39) |
D240G |
possibly damaging |
Het |
Omt2b |
A |
T |
9: 78,235,854 (GRCm39) |
T60S |
possibly damaging |
Het |
Or10ag52 |
G |
T |
2: 87,043,850 (GRCm39) |
G205W |
probably damaging |
Het |
Pcdhb2 |
A |
G |
18: 37,429,733 (GRCm39) |
N569D |
possibly damaging |
Het |
Plcd3 |
G |
A |
11: 102,971,447 (GRCm39) |
R66* |
probably null |
Het |
Polr1a |
G |
A |
6: 71,897,641 (GRCm39) |
R212Q |
probably benign |
Het |
Pou3f2 |
A |
T |
4: 22,487,020 (GRCm39) |
L371Q |
probably damaging |
Het |
Rnf207 |
A |
T |
4: 152,396,237 (GRCm39) |
I509N |
probably damaging |
Het |
Sema5a |
T |
G |
15: 32,686,977 (GRCm39) |
S1030A |
possibly damaging |
Het |
Sntg2 |
T |
C |
12: 30,245,542 (GRCm39) |
T495A |
probably benign |
Het |
Spem2 |
A |
T |
11: 69,707,789 (GRCm39) |
V392D |
probably benign |
Het |
Srrm2 |
T |
A |
17: 24,029,453 (GRCm39) |
|
probably benign |
Het |
Tbc1d8 |
A |
T |
1: 39,433,321 (GRCm39) |
F287Y |
probably damaging |
Het |
Tgfbi |
A |
G |
13: 56,779,043 (GRCm39) |
D422G |
probably benign |
Het |
Tppp |
G |
A |
13: 74,169,295 (GRCm39) |
A12T |
probably benign |
Het |
Usp46 |
C |
T |
5: 74,197,689 (GRCm39) |
|
probably null |
Het |
Zdhhc12 |
C |
T |
2: 29,981,448 (GRCm39) |
V205I |
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 |
|
IGL02309:Shank1
|
APN |
7 |
43,962,266 (GRCm39) |
missense |
unknown |
|
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 |
|
|