Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
Aldh18a1 |
A |
G |
19: 40,558,944 (GRCm39) |
S299P |
probably damaging |
Het |
Ankrd6 |
A |
C |
4: 32,806,206 (GRCm39) |
S618R |
probably benign |
Het |
Apobec3 |
G |
T |
15: 79,783,301 (GRCm39) |
R126M |
possibly damaging |
Het |
Arl8b |
T |
A |
6: 108,790,658 (GRCm39) |
V65D |
probably damaging |
Het |
AW554918 |
C |
T |
18: 25,533,104 (GRCm39) |
R253C |
probably benign |
Het |
Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
Cdca7l |
G |
A |
12: 117,835,948 (GRCm39) |
V95I |
probably damaging |
Het |
Ces1e |
A |
G |
8: 93,928,467 (GRCm39) |
|
probably null |
Het |
Cfap90 |
A |
G |
13: 68,759,344 (GRCm39) |
H106R |
probably damaging |
Het |
Coq5 |
T |
G |
5: 115,433,957 (GRCm39) |
F306V |
probably damaging |
Het |
Cpsf1 |
A |
G |
15: 76,485,349 (GRCm39) |
V501A |
probably benign |
Het |
Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
Cul5 |
T |
A |
9: 53,534,243 (GRCm39) |
I630L |
probably benign |
Het |
Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
Dedd |
A |
G |
1: 171,166,469 (GRCm39) |
E135G |
probably benign |
Het |
Ecel1 |
A |
G |
1: 87,080,622 (GRCm39) |
F368S |
probably damaging |
Het |
Ext1 |
A |
C |
15: 53,208,485 (GRCm39) |
I92S |
probably benign |
Het |
Fbxw5 |
A |
T |
2: 25,393,576 (GRCm39) |
D268V |
possibly damaging |
Het |
Flacc1 |
T |
G |
1: 58,698,164 (GRCm39) |
N379T |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,302,034 (GRCm39) |
V192E |
possibly damaging |
Het |
Gm11077 |
T |
G |
6: 140,675,041 (GRCm39) |
V11G |
unknown |
Het |
Ift88 |
A |
T |
14: 57,678,438 (GRCm39) |
E150V |
possibly damaging |
Het |
Kcna1 |
T |
C |
6: 126,620,009 (GRCm39) |
R104G |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Krt82 |
A |
G |
15: 101,459,035 (GRCm39) |
S2P |
probably damaging |
Het |
Luc7l2 |
T |
C |
6: 38,547,526 (GRCm39) |
S69P |
possibly damaging |
Het |
Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
Mamstr |
G |
T |
7: 45,293,956 (GRCm39) |
R20L |
probably damaging |
Het |
Nav1 |
C |
A |
1: 135,398,862 (GRCm39) |
K573N |
possibly damaging |
Het |
Or5b104 |
T |
C |
19: 13,072,277 (GRCm39) |
H245R |
probably damaging |
Het |
Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
Palld |
T |
A |
8: 62,002,871 (GRCm39) |
|
probably benign |
Het |
Pcdha2 |
A |
G |
18: 37,074,748 (GRCm39) |
Y793C |
probably benign |
Het |
Pcdhb4 |
A |
T |
18: 37,441,065 (GRCm39) |
D125V |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
Ppp1r9b |
A |
T |
11: 94,883,359 (GRCm39) |
E329V |
probably damaging |
Het |
Rarres1 |
T |
A |
3: 67,422,654 (GRCm39) |
D32V |
probably benign |
Het |
Rhobtb1 |
A |
G |
10: 69,121,523 (GRCm39) |
H53R |
possibly damaging |
Het |
Ryr1 |
A |
T |
7: 28,772,327 (GRCm39) |
S2494T |
probably damaging |
Het |
Sapcd2 |
G |
A |
2: 25,263,518 (GRCm39) |
|
probably benign |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Senp1 |
A |
C |
15: 97,954,713 (GRCm39) |
D490E |
probably damaging |
Het |
Sfrp5 |
C |
T |
19: 42,187,230 (GRCm39) |
R280H |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
Skint5 |
G |
A |
4: 113,703,496 (GRCm39) |
T499I |
possibly damaging |
Het |
Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
Spire1 |
G |
T |
18: 67,639,733 (GRCm39) |
T273K |
probably benign |
Het |
Tep1 |
T |
C |
14: 51,105,772 (GRCm39) |
T83A |
possibly damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,552,077 (GRCm39) |
R29441* |
probably null |
Het |
Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Sorl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00087:Sorl1
|
APN |
9 |
41,885,390 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01303:Sorl1
|
APN |
9 |
41,935,774 (GRCm39) |
splice site |
probably benign |
|
IGL01545:Sorl1
|
APN |
9 |
41,955,252 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01629:Sorl1
|
APN |
9 |
41,968,565 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01670:Sorl1
|
APN |
9 |
41,912,788 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01684:Sorl1
|
APN |
9 |
41,892,007 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02154:Sorl1
|
APN |
9 |
41,915,330 (GRCm39) |
missense |
probably benign |
|
IGL02215:Sorl1
|
APN |
9 |
41,929,478 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02427:Sorl1
|
APN |
9 |
41,952,986 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02590:Sorl1
|
APN |
9 |
41,957,857 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02794:Sorl1
|
APN |
9 |
41,975,070 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02797:Sorl1
|
APN |
9 |
41,948,355 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02987:Sorl1
|
APN |
9 |
41,952,349 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03005:Sorl1
|
APN |
9 |
41,968,621 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03069:Sorl1
|
APN |
9 |
41,902,722 (GRCm39) |
missense |
probably benign |
|
IGL03288:Sorl1
|
APN |
9 |
41,944,858 (GRCm39) |
splice site |
probably benign |
|
N/A - 287:Sorl1
|
UTSW |
9 |
41,952,892 (GRCm39) |
nonsense |
probably null |
|
PIT4151001:Sorl1
|
UTSW |
9 |
41,879,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R0117:Sorl1
|
UTSW |
9 |
41,944,873 (GRCm39) |
missense |
probably benign |
0.10 |
R0173:Sorl1
|
UTSW |
9 |
41,979,229 (GRCm39) |
missense |
probably damaging |
0.99 |
R0318:Sorl1
|
UTSW |
9 |
41,993,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R0385:Sorl1
|
UTSW |
9 |
41,943,205 (GRCm39) |
missense |
probably damaging |
0.99 |
R0448:Sorl1
|
UTSW |
9 |
41,915,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R0492:Sorl1
|
UTSW |
9 |
41,902,667 (GRCm39) |
missense |
probably null |
0.00 |
R0512:Sorl1
|
UTSW |
9 |
41,979,128 (GRCm39) |
missense |
probably benign |
0.01 |
R0587:Sorl1
|
UTSW |
9 |
41,895,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R0600:Sorl1
|
UTSW |
9 |
41,955,196 (GRCm39) |
splice site |
probably benign |
|
R0831:Sorl1
|
UTSW |
9 |
41,982,365 (GRCm39) |
splice site |
probably benign |
|
R0924:Sorl1
|
UTSW |
9 |
41,919,470 (GRCm39) |
splice site |
probably benign |
|
R1013:Sorl1
|
UTSW |
9 |
41,913,855 (GRCm39) |
missense |
probably benign |
0.00 |
R1053:Sorl1
|
UTSW |
9 |
41,902,752 (GRCm39) |
missense |
probably benign |
|
R1077:Sorl1
|
UTSW |
9 |
41,925,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1326:Sorl1
|
UTSW |
9 |
41,943,092 (GRCm39) |
missense |
probably benign |
0.14 |
R1348:Sorl1
|
UTSW |
9 |
41,911,708 (GRCm39) |
splice site |
probably null |
|
R1498:Sorl1
|
UTSW |
9 |
41,952,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R1671:Sorl1
|
UTSW |
9 |
41,885,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R1713:Sorl1
|
UTSW |
9 |
41,907,538 (GRCm39) |
missense |
probably benign |
0.06 |
R1738:Sorl1
|
UTSW |
9 |
42,001,261 (GRCm39) |
missense |
probably benign |
0.33 |
R1779:Sorl1
|
UTSW |
9 |
41,902,778 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1871:Sorl1
|
UTSW |
9 |
41,881,021 (GRCm39) |
nonsense |
probably null |
|
R1912:Sorl1
|
UTSW |
9 |
41,993,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R1952:Sorl1
|
UTSW |
9 |
41,957,920 (GRCm39) |
missense |
probably benign |
|
R2071:Sorl1
|
UTSW |
9 |
41,890,753 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2153:Sorl1
|
UTSW |
9 |
41,895,788 (GRCm39) |
missense |
probably benign |
0.01 |
R2417:Sorl1
|
UTSW |
9 |
41,892,007 (GRCm39) |
missense |
probably damaging |
0.96 |
R2429:Sorl1
|
UTSW |
9 |
41,948,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R2866:Sorl1
|
UTSW |
9 |
41,881,077 (GRCm39) |
missense |
probably benign |
|
R3816:Sorl1
|
UTSW |
9 |
41,975,345 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3817:Sorl1
|
UTSW |
9 |
41,975,345 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3819:Sorl1
|
UTSW |
9 |
41,975,345 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3890:Sorl1
|
UTSW |
9 |
41,915,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R3941:Sorl1
|
UTSW |
9 |
41,900,764 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4409:Sorl1
|
UTSW |
9 |
41,946,744 (GRCm39) |
missense |
probably damaging |
0.99 |
R4410:Sorl1
|
UTSW |
9 |
41,915,288 (GRCm39) |
nonsense |
probably null |
|
R4610:Sorl1
|
UTSW |
9 |
41,943,210 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4664:Sorl1
|
UTSW |
9 |
41,915,347 (GRCm39) |
missense |
probably damaging |
0.97 |
R4666:Sorl1
|
UTSW |
9 |
41,915,347 (GRCm39) |
missense |
probably damaging |
0.97 |
R4668:Sorl1
|
UTSW |
9 |
41,895,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R4823:Sorl1
|
UTSW |
9 |
41,903,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R4874:Sorl1
|
UTSW |
9 |
41,975,048 (GRCm39) |
missense |
probably damaging |
0.99 |
R4898:Sorl1
|
UTSW |
9 |
41,952,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R4922:Sorl1
|
UTSW |
9 |
41,925,746 (GRCm39) |
splice site |
probably null |
|
R4976:Sorl1
|
UTSW |
9 |
41,894,299 (GRCm39) |
missense |
probably benign |
0.00 |
R4984:Sorl1
|
UTSW |
9 |
41,902,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R5046:Sorl1
|
UTSW |
9 |
41,907,590 (GRCm39) |
missense |
probably benign |
|
R5070:Sorl1
|
UTSW |
9 |
41,943,114 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5084:Sorl1
|
UTSW |
9 |
41,887,673 (GRCm39) |
missense |
probably benign |
0.01 |
R5202:Sorl1
|
UTSW |
9 |
41,944,879 (GRCm39) |
missense |
probably benign |
0.00 |
R5265:Sorl1
|
UTSW |
9 |
42,017,812 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5275:Sorl1
|
UTSW |
9 |
41,942,198 (GRCm39) |
missense |
probably benign |
0.33 |
R5368:Sorl1
|
UTSW |
9 |
41,890,686 (GRCm39) |
missense |
probably benign |
0.00 |
R5385:Sorl1
|
UTSW |
9 |
41,968,580 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5386:Sorl1
|
UTSW |
9 |
41,968,580 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5416:Sorl1
|
UTSW |
9 |
41,913,932 (GRCm39) |
nonsense |
probably null |
|
R5518:Sorl1
|
UTSW |
9 |
41,948,508 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5545:Sorl1
|
UTSW |
9 |
41,902,921 (GRCm39) |
missense |
probably benign |
0.08 |
R5864:Sorl1
|
UTSW |
9 |
42,003,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R5865:Sorl1
|
UTSW |
9 |
41,894,330 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6339:Sorl1
|
UTSW |
9 |
41,881,038 (GRCm39) |
missense |
probably benign |
0.10 |
R6484:Sorl1
|
UTSW |
9 |
41,887,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R6505:Sorl1
|
UTSW |
9 |
41,982,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R6591:Sorl1
|
UTSW |
9 |
41,913,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R6596:Sorl1
|
UTSW |
9 |
41,912,899 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6654:Sorl1
|
UTSW |
9 |
41,891,941 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6691:Sorl1
|
UTSW |
9 |
41,913,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R6702:Sorl1
|
UTSW |
9 |
41,982,497 (GRCm39) |
missense |
probably damaging |
0.97 |
R6703:Sorl1
|
UTSW |
9 |
41,982,497 (GRCm39) |
missense |
probably damaging |
0.97 |
R6775:Sorl1
|
UTSW |
9 |
42,003,748 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6792:Sorl1
|
UTSW |
9 |
42,010,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R6852:Sorl1
|
UTSW |
9 |
41,935,694 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6860:Sorl1
|
UTSW |
9 |
41,933,688 (GRCm39) |
missense |
probably benign |
0.01 |
R6925:Sorl1
|
UTSW |
9 |
41,944,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R7022:Sorl1
|
UTSW |
9 |
41,881,047 (GRCm39) |
missense |
probably benign |
0.11 |
R7033:Sorl1
|
UTSW |
9 |
41,942,279 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7091:Sorl1
|
UTSW |
9 |
41,913,930 (GRCm39) |
missense |
probably benign |
0.00 |
R7267:Sorl1
|
UTSW |
9 |
42,035,375 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7269:Sorl1
|
UTSW |
9 |
41,948,499 (GRCm39) |
missense |
probably damaging |
0.99 |
R7272:Sorl1
|
UTSW |
9 |
41,975,006 (GRCm39) |
splice site |
probably null |
|
R7537:Sorl1
|
UTSW |
9 |
41,891,984 (GRCm39) |
missense |
probably benign |
0.01 |
R7615:Sorl1
|
UTSW |
9 |
41,888,878 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7636:Sorl1
|
UTSW |
9 |
42,003,630 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7727:Sorl1
|
UTSW |
9 |
41,895,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R7763:Sorl1
|
UTSW |
9 |
41,955,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R7831:Sorl1
|
UTSW |
9 |
42,001,257 (GRCm39) |
missense |
probably benign |
0.17 |
R7956:Sorl1
|
UTSW |
9 |
41,900,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R7964:Sorl1
|
UTSW |
9 |
41,902,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R7977:Sorl1
|
UTSW |
9 |
41,888,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R7987:Sorl1
|
UTSW |
9 |
41,888,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R8151:Sorl1
|
UTSW |
9 |
41,979,229 (GRCm39) |
missense |
probably damaging |
0.99 |
R8219:Sorl1
|
UTSW |
9 |
41,952,857 (GRCm39) |
splice site |
probably null |
|
R8261:Sorl1
|
UTSW |
9 |
41,925,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R8283:Sorl1
|
UTSW |
9 |
41,942,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R8308:Sorl1
|
UTSW |
9 |
41,929,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R8348:Sorl1
|
UTSW |
9 |
41,903,041 (GRCm39) |
missense |
probably benign |
0.35 |
R8448:Sorl1
|
UTSW |
9 |
41,903,041 (GRCm39) |
missense |
probably benign |
0.35 |
R8524:Sorl1
|
UTSW |
9 |
41,885,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R8869:Sorl1
|
UTSW |
9 |
41,933,722 (GRCm39) |
missense |
probably benign |
0.01 |
R8898:Sorl1
|
UTSW |
9 |
41,911,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R8972:Sorl1
|
UTSW |
9 |
41,957,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R9012:Sorl1
|
UTSW |
9 |
41,982,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R9094:Sorl1
|
UTSW |
9 |
41,975,050 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9241:Sorl1
|
UTSW |
9 |
41,885,420 (GRCm39) |
nonsense |
probably null |
|
R9278:Sorl1
|
UTSW |
9 |
41,957,857 (GRCm39) |
missense |
probably benign |
0.01 |
R9288:Sorl1
|
UTSW |
9 |
41,952,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R9303:Sorl1
|
UTSW |
9 |
41,900,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R9330:Sorl1
|
UTSW |
9 |
41,979,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R9332:Sorl1
|
UTSW |
9 |
41,912,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R9468:Sorl1
|
UTSW |
9 |
42,035,384 (GRCm39) |
missense |
probably benign |
0.20 |
R9528:Sorl1
|
UTSW |
9 |
41,933,631 (GRCm39) |
critical splice donor site |
probably null |
|
R9544:Sorl1
|
UTSW |
9 |
41,993,105 (GRCm39) |
nonsense |
probably null |
|
R9563:Sorl1
|
UTSW |
9 |
41,957,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R9564:Sorl1
|
UTSW |
9 |
41,957,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R9588:Sorl1
|
UTSW |
9 |
41,993,105 (GRCm39) |
nonsense |
probably null |
|
R9634:Sorl1
|
UTSW |
9 |
41,907,590 (GRCm39) |
missense |
probably benign |
|
R9671:Sorl1
|
UTSW |
9 |
41,943,077 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9701:Sorl1
|
UTSW |
9 |
42,003,766 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Sorl1
|
UTSW |
9 |
42,035,244 (GRCm39) |
missense |
probably benign |
0.03 |
Z1176:Sorl1
|
UTSW |
9 |
42,010,499 (GRCm39) |
missense |
possibly damaging |
0.64 |
Z1177:Sorl1
|
UTSW |
9 |
42,017,837 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Sorl1
|
UTSW |
9 |
41,902,934 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1177:Sorl1
|
UTSW |
9 |
42,035,208 (GRCm39) |
missense |
probably damaging |
1.00 |
Z31818:Sorl1
|
UTSW |
9 |
41,952,892 (GRCm39) |
nonsense |
probably null |
|
|