Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
T |
1: 71,348,959 (GRCm39) |
H851N |
probably benign |
Het |
Adamtsl4 |
T |
C |
3: 95,588,094 (GRCm39) |
Y631C |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,758,212 (GRCm39) |
I969V |
probably benign |
Het |
Apob |
A |
G |
12: 8,059,715 (GRCm39) |
I2699M |
probably damaging |
Het |
Aqr |
A |
T |
2: 113,980,890 (GRCm39) |
L297Q |
probably damaging |
Het |
Arb2a |
A |
T |
13: 77,910,041 (GRCm39) |
Y98F |
probably damaging |
Het |
Camsap1 |
A |
G |
2: 25,835,190 (GRCm39) |
Y301H |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,905,425 (GRCm39) |
|
probably benign |
Het |
Cd209b |
T |
A |
8: 3,973,367 (GRCm39) |
I106F |
possibly damaging |
Het |
Cdkn1b |
T |
A |
6: 134,898,060 (GRCm39) |
W60R |
probably damaging |
Het |
Coasy |
A |
G |
11: 100,975,822 (GRCm39) |
|
probably benign |
Het |
Col2a1 |
T |
A |
15: 97,877,532 (GRCm39) |
Q1017L |
probably damaging |
Het |
Cspg4b |
G |
A |
13: 113,505,026 (GRCm39) |
V510I |
possibly damaging |
Het |
Ctnnal1 |
T |
A |
4: 56,847,971 (GRCm39) |
N56I |
probably damaging |
Het |
Cyb561d2 |
T |
A |
9: 107,418,842 (GRCm39) |
|
probably benign |
Het |
Dcst1 |
G |
T |
3: 89,259,826 (GRCm39) |
T632N |
probably damaging |
Het |
Ddx1 |
C |
T |
12: 13,287,232 (GRCm39) |
V267I |
probably benign |
Het |
Dnah10 |
A |
T |
5: 124,852,050 (GRCm39) |
M1736L |
probably benign |
Het |
Eln |
G |
A |
5: 134,758,291 (GRCm39) |
|
probably benign |
Het |
Elp1 |
T |
A |
4: 56,781,193 (GRCm39) |
E493D |
probably benign |
Het |
Enpp2 |
A |
T |
15: 54,726,077 (GRCm39) |
D566E |
probably damaging |
Het |
Ezh1 |
T |
C |
11: 101,085,743 (GRCm39) |
K638R |
probably damaging |
Het |
Fdx2 |
C |
A |
9: 20,984,694 (GRCm39) |
G37W |
probably benign |
Het |
Grin2b |
T |
C |
6: 135,820,193 (GRCm39) |
I340V |
probably benign |
Het |
Il16 |
T |
C |
7: 83,304,520 (GRCm39) |
T671A |
probably benign |
Het |
Kcnd2 |
T |
A |
6: 21,216,356 (GRCm39) |
M20K |
probably damaging |
Het |
Kndc1 |
C |
T |
7: 139,502,600 (GRCm39) |
S962F |
probably damaging |
Het |
L1td1 |
A |
G |
4: 98,626,054 (GRCm39) |
S750G |
possibly damaging |
Het |
Lama2 |
A |
G |
10: 27,084,366 (GRCm39) |
C935R |
probably damaging |
Het |
Lgalsl |
T |
C |
11: 20,776,418 (GRCm39) |
D158G |
possibly damaging |
Het |
Lman1 |
A |
T |
18: 66,126,144 (GRCm39) |
|
probably null |
Het |
Lmtk2 |
A |
G |
5: 144,111,407 (GRCm39) |
E709G |
probably damaging |
Het |
Lrfn3 |
T |
C |
7: 30,055,352 (GRCm39) |
H531R |
possibly damaging |
Het |
Mark3 |
A |
G |
12: 111,589,759 (GRCm39) |
|
probably benign |
Het |
Mov10 |
T |
C |
3: 104,702,490 (GRCm39) |
E997G |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,395,157 (GRCm39) |
W2484R |
probably benign |
Het |
Myo1g |
G |
T |
11: 6,459,372 (GRCm39) |
Q833K |
probably benign |
Het |
Ncoa3 |
T |
A |
2: 165,897,430 (GRCm39) |
D740E |
probably benign |
Het |
Nol12 |
A |
G |
15: 78,822,153 (GRCm39) |
|
probably benign |
Het |
Nrxn2 |
T |
A |
19: 6,493,642 (GRCm39) |
|
probably null |
Het |
Nsfl1c |
A |
C |
2: 151,342,666 (GRCm39) |
I79L |
probably benign |
Het |
Or52b2 |
T |
C |
7: 104,986,468 (GRCm39) |
I152V |
probably benign |
Het |
Or5b108 |
A |
G |
19: 13,168,662 (GRCm39) |
I210M |
probably benign |
Het |
Or5k1 |
G |
T |
16: 58,617,811 (GRCm39) |
H133N |
probably benign |
Het |
Osbpl8 |
A |
C |
10: 111,127,442 (GRCm39) |
E842A |
probably benign |
Het |
Pdxk |
G |
T |
10: 78,276,645 (GRCm39) |
T310K |
probably benign |
Het |
Phip |
T |
G |
9: 82,841,658 (GRCm39) |
K54Q |
probably damaging |
Het |
Pklr |
A |
T |
3: 89,050,342 (GRCm39) |
D366V |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,433,848 (GRCm39) |
|
probably benign |
Het |
Ppp4r3a |
A |
T |
12: 101,009,783 (GRCm39) |
V618E |
probably damaging |
Het |
Prdm12 |
A |
T |
2: 31,530,319 (GRCm39) |
Q70L |
possibly damaging |
Het |
Ptgr3 |
A |
G |
18: 84,112,596 (GRCm39) |
K91E |
probably benign |
Het |
Ptpn21 |
A |
T |
12: 98,654,849 (GRCm39) |
M706K |
probably damaging |
Het |
Ptprq |
A |
T |
10: 107,422,575 (GRCm39) |
F1606I |
probably damaging |
Het |
Rasgrp4 |
T |
C |
7: 28,837,152 (GRCm39) |
|
probably null |
Het |
Rlbp1 |
C |
A |
7: 79,029,661 (GRCm39) |
|
probably null |
Het |
Rtp2 |
T |
C |
16: 23,746,193 (GRCm39) |
D166G |
probably benign |
Het |
Ryr3 |
A |
C |
2: 112,475,604 (GRCm39) |
F4481V |
probably damaging |
Het |
Slc30a5 |
T |
A |
13: 100,939,950 (GRCm39) |
D655V |
probably damaging |
Het |
Slco5a1 |
G |
A |
1: 12,942,132 (GRCm39) |
A838V |
probably benign |
Het |
Spata6l |
G |
T |
19: 28,905,039 (GRCm39) |
|
probably benign |
Het |
Srprb |
A |
G |
9: 103,067,501 (GRCm39) |
V239A |
probably damaging |
Het |
Tceanc2 |
T |
C |
4: 107,004,837 (GRCm39) |
T104A |
probably benign |
Het |
Tcp1 |
T |
C |
17: 13,141,493 (GRCm39) |
|
probably null |
Het |
Unc13b |
C |
T |
4: 43,239,385 (GRCm39) |
R1056* |
probably null |
Het |
Wdr19 |
G |
A |
5: 65,380,847 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
T |
A |
3: 5,306,919 (GRCm39) |
H48Q |
probably benign |
Het |
Zfp787 |
T |
A |
7: 6,135,234 (GRCm39) |
H339L |
probably damaging |
Het |
Zfp839 |
G |
T |
12: 110,827,333 (GRCm39) |
R408L |
probably benign |
Het |
|
Other mutations in Scn2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Scn2a
|
APN |
2 |
65,594,784 (GRCm39) |
missense |
probably benign |
|
IGL00159:Scn2a
|
APN |
2 |
65,573,434 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00418:Scn2a
|
APN |
2 |
65,594,866 (GRCm39) |
missense |
probably benign |
0.43 |
IGL00753:Scn2a
|
APN |
2 |
65,514,207 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL00770:Scn2a
|
APN |
2 |
65,566,197 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00774:Scn2a
|
APN |
2 |
65,566,197 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00847:Scn2a
|
APN |
2 |
65,501,078 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01155:Scn2a
|
APN |
2 |
65,548,092 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01329:Scn2a
|
APN |
2 |
65,547,852 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01537:Scn2a
|
APN |
2 |
65,546,219 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01672:Scn2a
|
APN |
2 |
65,582,278 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01958:Scn2a
|
APN |
2 |
65,532,173 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02028:Scn2a
|
APN |
2 |
65,594,002 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02142:Scn2a
|
APN |
2 |
65,546,182 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02160:Scn2a
|
APN |
2 |
65,560,460 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02183:Scn2a
|
APN |
2 |
65,501,947 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02341:Scn2a
|
APN |
2 |
65,518,721 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02504:Scn2a
|
APN |
2 |
65,514,228 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02530:Scn2a
|
APN |
2 |
65,560,522 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02621:Scn2a
|
APN |
2 |
65,579,223 (GRCm39) |
splice site |
probably benign |
|
IGL02652:Scn2a
|
APN |
2 |
65,532,382 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02966:Scn2a
|
APN |
2 |
65,532,188 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03188:Scn2a
|
APN |
2 |
65,501,997 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03329:Scn2a
|
APN |
2 |
65,594,973 (GRCm39) |
missense |
probably benign |
|
IGL03336:Scn2a
|
APN |
2 |
65,519,088 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03391:Scn2a
|
APN |
2 |
65,594,557 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4280001:Scn2a
|
UTSW |
2 |
65,546,074 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4362001:Scn2a
|
UTSW |
2 |
65,514,182 (GRCm39) |
missense |
probably benign |
0.09 |
PIT4403001:Scn2a
|
UTSW |
2 |
65,542,252 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4520001:Scn2a
|
UTSW |
2 |
65,518,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R0021:Scn2a
|
UTSW |
2 |
65,500,859 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0141:Scn2a
|
UTSW |
2 |
65,542,160 (GRCm39) |
missense |
probably benign |
0.01 |
R0240:Scn2a
|
UTSW |
2 |
65,566,118 (GRCm39) |
missense |
probably benign |
0.32 |
R0240:Scn2a
|
UTSW |
2 |
65,566,118 (GRCm39) |
missense |
probably benign |
0.32 |
R0335:Scn2a
|
UTSW |
2 |
65,512,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R0508:Scn2a
|
UTSW |
2 |
65,548,186 (GRCm39) |
missense |
probably damaging |
0.99 |
R0558:Scn2a
|
UTSW |
2 |
65,542,269 (GRCm39) |
missense |
probably benign |
0.26 |
R0600:Scn2a
|
UTSW |
2 |
65,532,177 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0667:Scn2a
|
UTSW |
2 |
65,582,340 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1178:Scn2a
|
UTSW |
2 |
65,517,123 (GRCm39) |
splice site |
probably benign |
|
R1244:Scn2a
|
UTSW |
2 |
65,593,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1386:Scn2a
|
UTSW |
2 |
65,519,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R1440:Scn2a
|
UTSW |
2 |
65,594,938 (GRCm39) |
missense |
probably benign |
|
R1448:Scn2a
|
UTSW |
2 |
65,514,189 (GRCm39) |
missense |
probably benign |
0.17 |
R1460:Scn2a
|
UTSW |
2 |
65,532,187 (GRCm39) |
missense |
probably damaging |
0.96 |
R1553:Scn2a
|
UTSW |
2 |
65,544,180 (GRCm39) |
nonsense |
probably null |
|
R1642:Scn2a
|
UTSW |
2 |
65,514,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R1803:Scn2a
|
UTSW |
2 |
65,501,111 (GRCm39) |
splice site |
probably null |
|
R1981:Scn2a
|
UTSW |
2 |
65,520,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R2002:Scn2a
|
UTSW |
2 |
65,512,427 (GRCm39) |
missense |
probably null |
1.00 |
R2068:Scn2a
|
UTSW |
2 |
65,582,417 (GRCm39) |
missense |
probably benign |
0.14 |
R2125:Scn2a
|
UTSW |
2 |
65,582,423 (GRCm39) |
nonsense |
probably null |
|
R2126:Scn2a
|
UTSW |
2 |
65,582,423 (GRCm39) |
nonsense |
probably null |
|
R2876:Scn2a
|
UTSW |
2 |
65,546,241 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2878:Scn2a
|
UTSW |
2 |
65,518,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R3113:Scn2a
|
UTSW |
2 |
65,579,129 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3749:Scn2a
|
UTSW |
2 |
65,544,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R3750:Scn2a
|
UTSW |
2 |
65,544,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R3765:Scn2a
|
UTSW |
2 |
65,513,054 (GRCm39) |
missense |
possibly damaging |
0.51 |
R3850:Scn2a
|
UTSW |
2 |
65,512,375 (GRCm39) |
missense |
probably benign |
0.14 |
R4585:Scn2a
|
UTSW |
2 |
65,573,395 (GRCm39) |
splice site |
probably null |
|
R4586:Scn2a
|
UTSW |
2 |
65,573,395 (GRCm39) |
splice site |
probably null |
|
R4588:Scn2a
|
UTSW |
2 |
65,544,111 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4622:Scn2a
|
UTSW |
2 |
65,582,371 (GRCm39) |
missense |
probably benign |
0.04 |
R5108:Scn2a
|
UTSW |
2 |
65,518,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R5161:Scn2a
|
UTSW |
2 |
65,594,935 (GRCm39) |
missense |
probably benign |
0.00 |
R5235:Scn2a
|
UTSW |
2 |
65,582,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R5464:Scn2a
|
UTSW |
2 |
65,532,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R5586:Scn2a
|
UTSW |
2 |
65,537,639 (GRCm39) |
nonsense |
probably null |
|
R5630:Scn2a
|
UTSW |
2 |
65,556,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R5715:Scn2a
|
UTSW |
2 |
65,547,928 (GRCm39) |
missense |
probably benign |
0.27 |
R5730:Scn2a
|
UTSW |
2 |
65,512,882 (GRCm39) |
nonsense |
probably null |
|
R5734:Scn2a
|
UTSW |
2 |
65,548,066 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5779:Scn2a
|
UTSW |
2 |
65,594,827 (GRCm39) |
missense |
probably benign |
0.00 |
R6133:Scn2a
|
UTSW |
2 |
65,573,448 (GRCm39) |
missense |
probably benign |
0.35 |
R6547:Scn2a
|
UTSW |
2 |
65,546,241 (GRCm39) |
missense |
probably benign |
0.29 |
R6549:Scn2a
|
UTSW |
2 |
65,595,018 (GRCm39) |
missense |
probably benign |
0.05 |
R6818:Scn2a
|
UTSW |
2 |
65,519,013 (GRCm39) |
nonsense |
probably null |
|
R6999:Scn2a
|
UTSW |
2 |
65,512,453 (GRCm39) |
missense |
probably benign |
|
R7069:Scn2a
|
UTSW |
2 |
65,594,950 (GRCm39) |
missense |
probably benign |
0.00 |
R7073:Scn2a
|
UTSW |
2 |
65,558,787 (GRCm39) |
missense |
probably benign |
0.00 |
R7125:Scn2a
|
UTSW |
2 |
65,594,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R7178:Scn2a
|
UTSW |
2 |
65,579,197 (GRCm39) |
nonsense |
probably null |
|
R7179:Scn2a
|
UTSW |
2 |
65,532,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R7203:Scn2a
|
UTSW |
2 |
65,578,663 (GRCm39) |
missense |
probably benign |
0.01 |
R7227:Scn2a
|
UTSW |
2 |
65,582,367 (GRCm39) |
missense |
probably damaging |
0.98 |
R7269:Scn2a
|
UTSW |
2 |
65,594,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7358:Scn2a
|
UTSW |
2 |
65,512,850 (GRCm39) |
nonsense |
probably null |
|
R7388:Scn2a
|
UTSW |
2 |
65,518,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R7491:Scn2a
|
UTSW |
2 |
65,532,352 (GRCm39) |
missense |
probably damaging |
0.99 |
R7619:Scn2a
|
UTSW |
2 |
65,546,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R7695:Scn2a
|
UTSW |
2 |
65,542,251 (GRCm39) |
missense |
probably damaging |
0.99 |
R7735:Scn2a
|
UTSW |
2 |
65,594,013 (GRCm39) |
missense |
probably benign |
0.40 |
R7911:Scn2a
|
UTSW |
2 |
65,512,427 (GRCm39) |
missense |
probably null |
1.00 |
R8096:Scn2a
|
UTSW |
2 |
65,594,366 (GRCm39) |
missense |
probably damaging |
0.98 |
R8172:Scn2a
|
UTSW |
2 |
65,520,672 (GRCm39) |
missense |
probably benign |
0.01 |
R8220:Scn2a
|
UTSW |
2 |
65,520,620 (GRCm39) |
missense |
probably benign |
0.01 |
R8333:Scn2a
|
UTSW |
2 |
65,514,191 (GRCm39) |
missense |
probably benign |
0.01 |
R8416:Scn2a
|
UTSW |
2 |
65,511,345 (GRCm39) |
missense |
probably benign |
0.00 |
R8850:Scn2a
|
UTSW |
2 |
65,518,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R8897:Scn2a
|
UTSW |
2 |
65,546,002 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8977:Scn2a
|
UTSW |
2 |
65,594,014 (GRCm39) |
missense |
probably damaging |
0.99 |
R8992:Scn2a
|
UTSW |
2 |
65,594,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R9190:Scn2a
|
UTSW |
2 |
65,511,346 (GRCm39) |
missense |
probably benign |
0.00 |
R9206:Scn2a
|
UTSW |
2 |
65,548,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R9355:Scn2a
|
UTSW |
2 |
65,594,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R9452:Scn2a
|
UTSW |
2 |
65,595,163 (GRCm39) |
missense |
probably benign |
|
R9529:Scn2a
|
UTSW |
2 |
65,594,932 (GRCm39) |
missense |
probably damaging |
0.99 |
R9567:Scn2a
|
UTSW |
2 |
65,518,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R9569:Scn2a
|
UTSW |
2 |
65,560,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R9657:Scn2a
|
UTSW |
2 |
65,566,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R9715:Scn2a
|
UTSW |
2 |
65,579,149 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9761:Scn2a
|
UTSW |
2 |
65,566,030 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Scn2a
|
UTSW |
2 |
65,582,212 (GRCm39) |
missense |
possibly damaging |
0.84 |
Z1177:Scn2a
|
UTSW |
2 |
65,548,079 (GRCm39) |
missense |
probably benign |
0.07 |
|