Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
T |
A |
17: 35,879,352 (GRCm39) |
V230E |
probably damaging |
Het |
Adam22 |
A |
T |
5: 8,230,064 (GRCm39) |
|
probably benign |
Het |
AW554918 |
A |
G |
18: 25,473,344 (GRCm39) |
I180V |
possibly damaging |
Het |
C9 |
T |
C |
15: 6,512,780 (GRCm39) |
S301P |
possibly damaging |
Het |
Cdc42bpb |
T |
C |
12: 111,268,558 (GRCm39) |
Q1214R |
probably benign |
Het |
Chaf1b |
T |
C |
16: 93,697,043 (GRCm39) |
I351T |
probably damaging |
Het |
Clip1 |
T |
C |
5: 123,741,723 (GRCm39) |
E1177G |
probably damaging |
Het |
Colgalt1 |
G |
A |
8: 72,070,312 (GRCm39) |
C198Y |
probably damaging |
Het |
Dennd4b |
C |
T |
3: 90,182,795 (GRCm39) |
R871C |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,611,457 (GRCm39) |
D433V |
probably benign |
Het |
Eif4ebp1 |
A |
G |
8: 27,763,362 (GRCm39) |
I52V |
probably damaging |
Het |
Fbxw5 |
T |
C |
2: 25,394,195 (GRCm39) |
I86T |
probably damaging |
Het |
Gm10650 |
A |
G |
3: 127,833,530 (GRCm39) |
|
noncoding transcript |
Het |
Helz |
G |
A |
11: 107,577,378 (GRCm39) |
A1910T |
unknown |
Het |
Hsf2 |
C |
T |
10: 57,373,642 (GRCm39) |
T70I |
probably damaging |
Het |
Ifih1 |
A |
G |
2: 62,437,447 (GRCm39) |
|
probably benign |
Het |
Kdm2a |
T |
C |
19: 4,372,546 (GRCm39) |
D933G |
probably damaging |
Het |
Macc1 |
T |
C |
12: 119,429,346 (GRCm39) |
I832T |
probably damaging |
Het |
Mapk15 |
T |
C |
15: 75,870,697 (GRCm39) |
S512P |
possibly damaging |
Het |
Mybpc2 |
A |
T |
7: 44,171,149 (GRCm39) |
I134N |
possibly damaging |
Het |
Myh4 |
A |
G |
11: 67,150,000 (GRCm39) |
E1853G |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,897,279 (GRCm39) |
V690A |
probably damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or5b97 |
A |
G |
19: 12,878,991 (GRCm39) |
V51A |
probably benign |
Het |
Pacsin2 |
A |
T |
15: 83,269,313 (GRCm39) |
|
probably benign |
Het |
Piezo2 |
A |
T |
18: 63,155,596 (GRCm39) |
L2416Q |
probably damaging |
Het |
Pip5k1c |
T |
A |
10: 81,144,858 (GRCm39) |
I233N |
probably damaging |
Het |
Ptcd3 |
T |
C |
6: 71,865,631 (GRCm39) |
D428G |
probably damaging |
Het |
Ptprf |
T |
C |
4: 118,126,501 (GRCm39) |
D84G |
possibly damaging |
Het |
Rasgrf2 |
T |
C |
13: 92,120,359 (GRCm39) |
D798G |
probably benign |
Het |
Setd7 |
A |
G |
3: 51,450,097 (GRCm39) |
Y110H |
probably damaging |
Het |
Sgta |
T |
C |
10: 80,887,081 (GRCm39) |
I61M |
possibly damaging |
Het |
Skint5 |
A |
G |
4: 113,799,864 (GRCm39) |
Y88H |
probably damaging |
Het |
Spata31f1a |
A |
T |
4: 42,851,696 (GRCm39) |
D153E |
probably benign |
Het |
Stox1 |
T |
C |
10: 62,499,945 (GRCm39) |
I872V |
probably benign |
Het |
Tmc4 |
A |
G |
7: 3,674,025 (GRCm39) |
F385L |
probably benign |
Het |
Top3a |
A |
G |
11: 60,646,838 (GRCm39) |
F258L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,780,499 (GRCm39) |
Y1084C |
probably damaging |
Het |
Ubtf |
A |
T |
11: 102,199,528 (GRCm39) |
Y504* |
probably null |
Het |
Wdfy3 |
T |
C |
5: 102,036,125 (GRCm39) |
T2098A |
probably damaging |
Het |
Wnk2 |
G |
T |
13: 49,214,964 (GRCm39) |
T1194K |
possibly damaging |
Het |
Zbtb40 |
T |
A |
4: 136,725,879 (GRCm39) |
E560V |
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 |
|
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 |
|
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 |
|
|