Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
A |
8: 44,103,840 (GRCm39) |
I602L |
probably benign |
Het |
Adarb2 |
C |
T |
13: 8,751,653 (GRCm39) |
R473C |
probably damaging |
Het |
Arrdc3 |
A |
G |
13: 81,038,669 (GRCm39) |
I210M |
probably damaging |
Het |
C1qb |
T |
C |
4: 136,608,033 (GRCm39) |
D110G |
probably benign |
Het |
Ccdc86 |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
19: 10,926,162 (GRCm39) |
|
probably benign |
Het |
Ces1d |
A |
G |
8: 93,919,457 (GRCm39) |
F112L |
probably benign |
Het |
Cyp2j13 |
T |
A |
4: 95,965,527 (GRCm39) |
D60V |
possibly damaging |
Het |
Dcun1d5 |
T |
A |
9: 7,189,205 (GRCm39) |
M98K |
probably damaging |
Het |
Ecpas |
T |
A |
4: 58,801,796 (GRCm39) |
T1774S |
probably benign |
Het |
Exosc7 |
T |
C |
9: 122,942,365 (GRCm39) |
V12A |
probably benign |
Het |
Fcrl2 |
T |
C |
3: 87,164,677 (GRCm39) |
Y283C |
probably damaging |
Het |
Fgd6 |
A |
G |
10: 93,880,916 (GRCm39) |
D590G |
possibly damaging |
Het |
Gne |
T |
C |
4: 44,042,261 (GRCm39) |
N469S |
probably benign |
Het |
Ipo11 |
A |
T |
13: 107,061,633 (GRCm39) |
V9E |
probably benign |
Het |
Mad1l1 |
T |
C |
5: 140,300,813 (GRCm39) |
T28A |
probably benign |
Het |
Mcoln3 |
A |
G |
3: 145,827,554 (GRCm39) |
N3D |
probably benign |
Het |
Mprip |
A |
G |
11: 59,622,383 (GRCm39) |
K157E |
probably damaging |
Het |
Mthfr |
A |
T |
4: 148,139,451 (GRCm39) |
I588F |
probably benign |
Het |
Mup15 |
A |
T |
4: 61,357,825 (GRCm39) |
C15* |
probably null |
Het |
Myom1 |
A |
G |
17: 71,391,316 (GRCm39) |
T942A |
probably benign |
Het |
Myorg |
T |
C |
4: 41,498,209 (GRCm39) |
S474G |
possibly damaging |
Het |
Or10ag55-ps1 |
T |
C |
2: 87,115,561 (GRCm39) |
M309T |
probably benign |
Het |
Or2d3b |
T |
C |
7: 106,513,590 (GRCm39) |
F62L |
probably benign |
Het |
Phf11c |
G |
A |
14: 59,628,412 (GRCm39) |
S79L |
possibly damaging |
Het |
Pogz |
T |
A |
3: 94,786,226 (GRCm39) |
V938D |
probably damaging |
Het |
Ppip5k1 |
C |
T |
2: 121,158,121 (GRCm39) |
|
probably benign |
Het |
Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
Resf1 |
G |
A |
6: 149,227,997 (GRCm39) |
V348I |
probably benign |
Het |
Ric3 |
T |
C |
7: 108,657,043 (GRCm39) |
I100V |
probably damaging |
Het |
Slc40a1 |
T |
C |
1: 45,948,580 (GRCm39) |
T567A |
probably benign |
Het |
Slfn14 |
A |
T |
11: 83,174,455 (GRCm39) |
F179I |
possibly damaging |
Het |
Spata31f1a |
T |
C |
4: 42,849,354 (GRCm39) |
H934R |
probably benign |
Het |
Susd1 |
A |
G |
4: 59,380,883 (GRCm39) |
V326A |
probably benign |
Het |
Thsd7b |
T |
C |
1: 129,523,187 (GRCm39) |
W74R |
possibly damaging |
Het |
Ugt3a1 |
T |
G |
15: 9,312,014 (GRCm39) |
S419A |
probably benign |
Het |
Vac14 |
A |
G |
8: 111,438,226 (GRCm39) |
E613G |
probably damaging |
Het |
Vmn1r220 |
C |
A |
13: 23,368,423 (GRCm39) |
R91L |
probably damaging |
Het |
Vrk1 |
C |
T |
12: 106,036,953 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Rptor |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00537:Rptor
|
APN |
11 |
119,690,271 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01319:Rptor
|
APN |
11 |
119,781,996 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01375:Rptor
|
APN |
11 |
119,787,262 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01899:Rptor
|
APN |
11 |
119,748,279 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01927:Rptor
|
APN |
11 |
119,548,500 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02312:Rptor
|
APN |
11 |
119,737,741 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02620:Rptor
|
APN |
11 |
119,671,413 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02651:Rptor
|
APN |
11 |
119,783,438 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03182:Rptor
|
APN |
11 |
119,615,971 (GRCm39) |
missense |
probably damaging |
1.00 |
Velocipede
|
UTSW |
11 |
119,786,803 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0103:Rptor
|
UTSW |
11 |
119,775,793 (GRCm39) |
missense |
probably benign |
0.01 |
R0179:Rptor
|
UTSW |
11 |
119,763,193 (GRCm39) |
missense |
probably benign |
0.14 |
R0217:Rptor
|
UTSW |
11 |
119,785,738 (GRCm39) |
splice site |
probably benign |
|
R0219:Rptor
|
UTSW |
11 |
119,712,603 (GRCm39) |
intron |
probably benign |
|
R0324:Rptor
|
UTSW |
11 |
119,783,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R0432:Rptor
|
UTSW |
11 |
119,671,379 (GRCm39) |
nonsense |
probably null |
|
R0718:Rptor
|
UTSW |
11 |
119,763,202 (GRCm39) |
missense |
probably benign |
0.15 |
R0730:Rptor
|
UTSW |
11 |
119,775,780 (GRCm39) |
missense |
probably benign |
0.06 |
R1019:Rptor
|
UTSW |
11 |
119,734,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R1073:Rptor
|
UTSW |
11 |
119,634,717 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1424:Rptor
|
UTSW |
11 |
119,671,419 (GRCm39) |
nonsense |
probably null |
|
R1579:Rptor
|
UTSW |
11 |
119,786,827 (GRCm39) |
missense |
probably benign |
0.00 |
R1766:Rptor
|
UTSW |
11 |
119,615,887 (GRCm39) |
missense |
probably damaging |
0.99 |
R1844:Rptor
|
UTSW |
11 |
119,647,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R2180:Rptor
|
UTSW |
11 |
119,615,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R2274:Rptor
|
UTSW |
11 |
119,647,148 (GRCm39) |
nonsense |
probably null |
|
R2275:Rptor
|
UTSW |
11 |
119,647,148 (GRCm39) |
nonsense |
probably null |
|
R2408:Rptor
|
UTSW |
11 |
119,748,277 (GRCm39) |
missense |
probably damaging |
0.99 |
R2981:Rptor
|
UTSW |
11 |
119,756,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R2996:Rptor
|
UTSW |
11 |
119,747,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R3001:Rptor
|
UTSW |
11 |
119,763,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3002:Rptor
|
UTSW |
11 |
119,763,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3003:Rptor
|
UTSW |
11 |
119,763,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4358:Rptor
|
UTSW |
11 |
119,562,171 (GRCm39) |
missense |
probably damaging |
0.98 |
R4592:Rptor
|
UTSW |
11 |
119,689,666 (GRCm39) |
missense |
probably null |
1.00 |
R4647:Rptor
|
UTSW |
11 |
119,781,989 (GRCm39) |
missense |
probably benign |
0.33 |
R4666:Rptor
|
UTSW |
11 |
119,634,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R4958:Rptor
|
UTSW |
11 |
119,748,217 (GRCm39) |
missense |
probably benign |
0.29 |
R4974:Rptor
|
UTSW |
11 |
119,712,466 (GRCm39) |
intron |
probably benign |
|
R5073:Rptor
|
UTSW |
11 |
119,787,305 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5199:Rptor
|
UTSW |
11 |
119,494,642 (GRCm39) |
missense |
probably benign |
|
R5216:Rptor
|
UTSW |
11 |
119,734,539 (GRCm39) |
missense |
probably damaging |
0.98 |
R5219:Rptor
|
UTSW |
11 |
119,734,539 (GRCm39) |
missense |
probably damaging |
0.98 |
R5277:Rptor
|
UTSW |
11 |
119,713,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R5365:Rptor
|
UTSW |
11 |
119,734,539 (GRCm39) |
missense |
probably damaging |
0.98 |
R5366:Rptor
|
UTSW |
11 |
119,734,539 (GRCm39) |
missense |
probably damaging |
0.98 |
R5447:Rptor
|
UTSW |
11 |
119,734,539 (GRCm39) |
missense |
probably damaging |
0.98 |
R5630:Rptor
|
UTSW |
11 |
119,647,075 (GRCm39) |
missense |
probably benign |
0.01 |
R6220:Rptor
|
UTSW |
11 |
119,788,268 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6567:Rptor
|
UTSW |
11 |
119,786,838 (GRCm39) |
missense |
probably benign |
0.00 |
R6741:Rptor
|
UTSW |
11 |
119,786,803 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6915:Rptor
|
UTSW |
11 |
119,647,171 (GRCm39) |
missense |
probably damaging |
0.99 |
R7032:Rptor
|
UTSW |
11 |
119,737,762 (GRCm39) |
missense |
probably benign |
0.00 |
R7051:Rptor
|
UTSW |
11 |
119,765,012 (GRCm39) |
utr 3 prime |
probably benign |
|
R7396:Rptor
|
UTSW |
11 |
119,763,181 (GRCm39) |
missense |
probably benign |
0.10 |
R7429:Rptor
|
UTSW |
11 |
119,737,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R7430:Rptor
|
UTSW |
11 |
119,737,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R7447:Rptor
|
UTSW |
11 |
119,775,805 (GRCm39) |
missense |
probably benign |
0.00 |
R7595:Rptor
|
UTSW |
11 |
119,634,779 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7776:Rptor
|
UTSW |
11 |
119,783,453 (GRCm39) |
missense |
probably benign |
0.01 |
R7854:Rptor
|
UTSW |
11 |
119,748,779 (GRCm39) |
missense |
probably benign |
0.02 |
R8288:Rptor
|
UTSW |
11 |
119,748,763 (GRCm39) |
missense |
probably benign |
0.02 |
R8305:Rptor
|
UTSW |
11 |
119,702,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R8328:Rptor
|
UTSW |
11 |
119,783,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8351:Rptor
|
UTSW |
11 |
119,783,465 (GRCm39) |
missense |
probably benign |
0.22 |
R8772:Rptor
|
UTSW |
11 |
119,615,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R8871:Rptor
|
UTSW |
11 |
119,494,751 (GRCm39) |
missense |
probably benign |
0.01 |
R8925:Rptor
|
UTSW |
11 |
119,782,036 (GRCm39) |
missense |
probably benign |
0.11 |
R8927:Rptor
|
UTSW |
11 |
119,782,036 (GRCm39) |
missense |
probably benign |
0.11 |
R9149:Rptor
|
UTSW |
11 |
119,777,896 (GRCm39) |
missense |
probably benign |
0.05 |
R9213:Rptor
|
UTSW |
11 |
119,494,765 (GRCm39) |
missense |
probably benign |
|
R9224:Rptor
|
UTSW |
11 |
119,785,113 (GRCm39) |
missense |
probably benign |
0.11 |
R9290:Rptor
|
UTSW |
11 |
119,702,823 (GRCm39) |
missense |
probably benign |
0.00 |
R9314:Rptor
|
UTSW |
11 |
119,786,772 (GRCm39) |
missense |
probably benign |
0.43 |
R9371:Rptor
|
UTSW |
11 |
119,562,152 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9719:Rptor
|
UTSW |
11 |
119,781,940 (GRCm39) |
missense |
probably benign |
0.13 |
R9751:Rptor
|
UTSW |
11 |
119,777,964 (GRCm39) |
missense |
probably benign |
0.02 |
X0050:Rptor
|
UTSW |
11 |
119,737,231 (GRCm39) |
missense |
probably benign |
0.14 |
X0066:Rptor
|
UTSW |
11 |
119,748,692 (GRCm39) |
missense |
probably benign |
0.31 |
Z0001:Rptor
|
UTSW |
11 |
119,762,318 (GRCm39) |
critical splice acceptor site |
probably benign |
|
Z0001:Rptor
|
UTSW |
11 |
119,748,279 (GRCm39) |
critical splice donor site |
probably benign |
|
Z0001:Rptor
|
UTSW |
11 |
119,742,294 (GRCm39) |
critical splice donor site |
probably benign |
|
Z0001:Rptor
|
UTSW |
11 |
119,737,578 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z0001:Rptor
|
UTSW |
11 |
119,690,145 (GRCm39) |
critical splice acceptor site |
probably benign |
|
Z0001:Rptor
|
UTSW |
11 |
119,647,241 (GRCm39) |
critical splice donor site |
probably benign |
|
Z0001:Rptor
|
UTSW |
11 |
119,647,062 (GRCm39) |
splice site |
probably null |
|
Z0001:Rptor
|
UTSW |
11 |
119,494,798 (GRCm39) |
critical splice donor site |
probably null |
|
Z0001:Rptor
|
UTSW |
11 |
119,787,375 (GRCm39) |
critical splice donor site |
probably benign |
|
Z0001:Rptor
|
UTSW |
11 |
119,764,977 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|