Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921511C20Rik |
T |
A |
X: 126,303,196 (GRCm39) |
S378R |
probably benign |
Het |
Abca14 |
T |
A |
7: 119,852,612 (GRCm39) |
M859K |
probably benign |
Het |
Adamts13 |
C |
T |
2: 26,875,495 (GRCm39) |
P462S |
probably damaging |
Het |
Apol7a |
G |
T |
15: 77,277,690 (GRCm39) |
D19E |
possibly damaging |
Het |
Armc8 |
T |
C |
9: 99,366,031 (GRCm39) |
N628D |
possibly damaging |
Het |
Astn2 |
T |
A |
4: 66,184,471 (GRCm39) |
I209F |
unknown |
Het |
Atp10b |
T |
C |
11: 43,085,492 (GRCm39) |
|
probably null |
Het |
C4b |
C |
T |
17: 34,953,465 (GRCm39) |
C1006Y |
probably damaging |
Het |
Capn13 |
A |
G |
17: 73,637,993 (GRCm39) |
L470P |
probably damaging |
Het |
Col4a4 |
T |
C |
1: 82,431,530 (GRCm39) |
R1585G |
unknown |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Csmd3 |
C |
T |
15: 47,449,084 (GRCm39) |
V3637M |
probably damaging |
Het |
Dgki |
C |
T |
6: 36,993,610 (GRCm39) |
D584N |
probably damaging |
Het |
Dmrt2 |
T |
C |
19: 25,655,498 (GRCm39) |
S366P |
probably damaging |
Het |
Dmtf1 |
A |
C |
5: 9,186,070 (GRCm39) |
L172R |
probably damaging |
Het |
Efhc2 |
A |
G |
X: 17,096,817 (GRCm39) |
F177L |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,063,926 (GRCm39) |
|
probably benign |
Het |
Enpp6 |
A |
T |
8: 47,518,967 (GRCm39) |
D245V |
probably damaging |
Het |
Fam199x |
T |
A |
X: 135,963,399 (GRCm39) |
|
probably benign |
Het |
Fkbp4 |
A |
T |
6: 128,411,433 (GRCm39) |
|
probably benign |
Het |
Gas7 |
A |
G |
11: 67,534,158 (GRCm39) |
H86R |
probably benign |
Het |
Gcc2 |
A |
G |
10: 58,107,458 (GRCm39) |
N862S |
probably benign |
Het |
Gstm7 |
T |
C |
3: 107,837,594 (GRCm39) |
D115G |
possibly damaging |
Het |
Gtse1 |
C |
A |
15: 85,746,799 (GRCm39) |
P205Q |
possibly damaging |
Het |
H2bc1 |
A |
T |
13: 24,118,093 (GRCm39) |
F16Y |
probably benign |
Het |
Herc4 |
G |
A |
10: 63,109,345 (GRCm39) |
M193I |
probably benign |
Het |
Igfl3 |
T |
A |
7: 17,913,763 (GRCm39) |
C38S |
possibly damaging |
Het |
Il18rap |
G |
A |
1: 40,587,082 (GRCm39) |
D455N |
probably damaging |
Het |
Ints8 |
A |
G |
4: 11,209,244 (GRCm39) |
I932T |
probably damaging |
Het |
Itgbl1 |
A |
C |
14: 124,209,553 (GRCm39) |
I311L |
probably benign |
Het |
Jmjd1c |
A |
T |
10: 67,056,101 (GRCm39) |
H794L |
probably damaging |
Het |
Kif1a |
A |
G |
1: 92,948,271 (GRCm39) |
S1542P |
probably benign |
Het |
Klc3 |
T |
A |
7: 19,129,750 (GRCm39) |
N373I |
probably damaging |
Het |
Lcn2 |
T |
C |
2: 32,274,877 (GRCm39) |
*201W |
probably null |
Het |
Ldhb |
A |
T |
6: 142,441,292 (GRCm39) |
|
probably null |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Npat |
T |
A |
9: 53,470,417 (GRCm39) |
S348T |
probably benign |
Het |
Pclo |
A |
T |
5: 14,906,999 (GRCm39) |
D5001V |
unknown |
Het |
Peg3 |
C |
A |
7: 6,712,010 (GRCm39) |
A1071S |
probably benign |
Het |
Piwil2 |
A |
T |
14: 70,628,822 (GRCm39) |
D731E |
possibly damaging |
Het |
Prss41 |
T |
A |
17: 24,062,830 (GRCm39) |
D35V |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 22,965,181 (GRCm39) |
D159E |
possibly damaging |
Het |
Rabep1 |
C |
T |
11: 70,814,023 (GRCm39) |
Q571* |
probably null |
Het |
Scn8a |
A |
G |
15: 100,927,453 (GRCm39) |
|
probably null |
Het |
Sipa1l2 |
G |
A |
8: 126,174,576 (GRCm39) |
T1234I |
possibly damaging |
Het |
Slc5a10 |
T |
A |
11: 61,564,738 (GRCm39) |
M414L |
probably benign |
Het |
Smg5 |
T |
C |
3: 88,260,305 (GRCm39) |
S632P |
possibly damaging |
Het |
Smim15 |
A |
G |
13: 108,184,048 (GRCm39) |
D18G |
probably benign |
Het |
Spatc1 |
T |
C |
15: 76,167,739 (GRCm39) |
|
probably benign |
Het |
Sytl2 |
A |
T |
7: 90,030,422 (GRCm39) |
|
probably benign |
Het |
Tesc |
A |
G |
5: 118,199,683 (GRCm39) |
D195G |
probably damaging |
Het |
Tmem39b |
T |
A |
4: 129,586,311 (GRCm39) |
|
probably null |
Het |
Vmn2r52 |
A |
G |
7: 9,905,029 (GRCm39) |
V270A |
probably damaging |
Het |
Wdr3 |
C |
A |
3: 100,054,016 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R3815:Sorl1
|
UTSW |
9 |
41,975,345 (GRCm39) |
missense |
possibly damaging |
0.71 |
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 |
|
|