Other mutations in this stock |
Total: 95 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
A |
11: 9,538,508 (GRCm39) |
|
probably benign |
Het |
Abcb6 |
C |
T |
1: 75,148,553 (GRCm39) |
E89K |
probably damaging |
Het |
Adam25 |
C |
A |
8: 41,209,011 (GRCm39) |
T759K |
probably benign |
Het |
Adgrf5 |
G |
A |
17: 43,733,552 (GRCm39) |
|
probably null |
Het |
Aimp1 |
A |
T |
3: 132,380,626 (GRCm39) |
|
probably benign |
Het |
Aldh3a2 |
C |
T |
11: 61,153,148 (GRCm39) |
V193I |
probably benign |
Het |
Ank2 |
C |
T |
3: 126,723,478 (GRCm39) |
V950I |
probably benign |
Het |
Aspn |
A |
G |
13: 49,705,258 (GRCm39) |
D40G |
possibly damaging |
Het |
C1rl |
A |
G |
6: 124,485,595 (GRCm39) |
D322G |
probably benign |
Het |
Car5a |
T |
C |
8: 122,671,555 (GRCm39) |
|
probably benign |
Het |
Cfap107 |
G |
T |
4: 144,146,322 (GRCm39) |
N110K |
probably damaging |
Het |
Cfap157 |
T |
A |
2: 32,669,022 (GRCm39) |
K360N |
probably damaging |
Het |
Cilp |
T |
A |
9: 65,177,608 (GRCm39) |
F117Y |
probably damaging |
Het |
Cntnap5c |
T |
G |
17: 58,349,493 (GRCm39) |
W269G |
probably damaging |
Het |
Col6a1 |
A |
G |
10: 76,552,114 (GRCm39) |
V459A |
unknown |
Het |
Commd3 |
A |
G |
2: 18,679,786 (GRCm39) |
E165G |
possibly damaging |
Het |
Cops3 |
A |
C |
11: 59,717,148 (GRCm39) |
Y244D |
probably damaging |
Het |
Cpne5 |
T |
A |
17: 29,428,667 (GRCm39) |
K108N |
probably damaging |
Het |
Cracdl |
T |
C |
1: 37,651,411 (GRCm39) |
D1152G |
possibly damaging |
Het |
Ddx41 |
A |
G |
13: 55,679,112 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,301,113 (GRCm39) |
Y157H |
probably damaging |
Het |
Dpp8 |
A |
T |
9: 64,962,176 (GRCm39) |
L405F |
probably benign |
Het |
Dync2h1 |
G |
T |
9: 7,103,680 (GRCm39) |
A365E |
probably benign |
Het |
Dysf |
C |
T |
6: 84,167,828 (GRCm39) |
R1757W |
probably benign |
Het |
Eif1ad |
T |
A |
19: 5,418,726 (GRCm39) |
V93D |
possibly damaging |
Het |
Eif2ak3 |
T |
C |
6: 70,869,514 (GRCm39) |
F734L |
probably benign |
Het |
F8 |
T |
C |
X: 74,423,230 (GRCm39) |
|
probably benign |
Het |
Fbxl14 |
T |
C |
6: 119,457,715 (GRCm39) |
Y299H |
probably benign |
Het |
Fmo1 |
T |
C |
1: 162,661,341 (GRCm39) |
N314S |
probably benign |
Het |
Fnip2 |
T |
C |
3: 79,388,446 (GRCm39) |
T762A |
probably benign |
Het |
Gfra1 |
A |
C |
19: 58,258,555 (GRCm39) |
S271A |
probably benign |
Het |
Gm9932 |
T |
C |
5: 100,346,931 (GRCm39) |
V43A |
probably damaging |
Het |
Herc6 |
T |
C |
6: 57,558,092 (GRCm39) |
L24P |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,695,161 (GRCm39) |
T248A |
probably damaging |
Het |
Hook1 |
T |
A |
4: 95,884,077 (GRCm39) |
|
probably benign |
Het |
Ifne |
T |
C |
4: 88,798,014 (GRCm39) |
S135G |
probably benign |
Het |
Igkv13-84 |
G |
A |
6: 68,916,635 (GRCm39) |
|
probably benign |
Het |
Itm2b |
T |
A |
14: 73,602,065 (GRCm39) |
N211I |
probably damaging |
Het |
Kcnh5 |
A |
T |
12: 75,023,305 (GRCm39) |
C588S |
possibly damaging |
Het |
Kif13a |
A |
T |
13: 46,952,689 (GRCm39) |
W699R |
possibly damaging |
Het |
Kmt2e |
T |
C |
5: 23,678,581 (GRCm39) |
V220A |
probably benign |
Het |
Macrod2 |
T |
C |
2: 140,260,836 (GRCm39) |
|
probably null |
Het |
Map3k6 |
A |
G |
4: 132,975,437 (GRCm39) |
E724G |
probably damaging |
Het |
Mgam |
T |
C |
6: 40,619,953 (GRCm39) |
L14P |
possibly damaging |
Het |
Morc1 |
T |
A |
16: 48,412,977 (GRCm39) |
M706K |
probably benign |
Het |
Muc2 |
T |
C |
7: 141,306,037 (GRCm39) |
V242A |
probably damaging |
Het |
Mx2 |
T |
A |
16: 97,345,753 (GRCm39) |
V57E |
probably damaging |
Het |
Myh14 |
C |
A |
7: 44,274,395 (GRCm39) |
A1339S |
possibly damaging |
Het |
Myom1 |
G |
T |
17: 71,374,308 (GRCm39) |
S595I |
probably damaging |
Het |
Nav1 |
T |
A |
1: 135,380,687 (GRCm39) |
M1471L |
probably benign |
Het |
Ncapd2 |
A |
C |
6: 125,146,843 (GRCm39) |
S1248A |
probably benign |
Het |
Ncbp1 |
T |
C |
4: 46,147,528 (GRCm39) |
V125A |
probably benign |
Het |
Ncor2 |
A |
T |
5: 125,106,176 (GRCm39) |
|
probably benign |
Het |
Nobox |
T |
A |
6: 43,284,144 (GRCm39) |
Q134L |
probably benign |
Het |
Ntng1 |
G |
T |
3: 109,779,611 (GRCm39) |
T322K |
probably damaging |
Het |
Olfm5 |
T |
C |
7: 103,803,326 (GRCm39) |
E379G |
probably damaging |
Het |
Oma1 |
T |
C |
4: 103,210,792 (GRCm39) |
S433P |
probably damaging |
Het |
Or1ad6 |
T |
C |
11: 50,860,645 (GRCm39) |
S267P |
probably damaging |
Het |
Or1b1 |
T |
C |
2: 36,995,074 (GRCm39) |
D196G |
possibly damaging |
Het |
Or4c105 |
A |
T |
2: 88,647,568 (GRCm39) |
N18Y |
probably damaging |
Het |
Or4c107 |
C |
T |
2: 88,788,960 (GRCm39) |
T50I |
probably benign |
Het |
Or4c113 |
C |
T |
2: 88,885,636 (GRCm39) |
V45M |
possibly damaging |
Het |
Parp14 |
G |
A |
16: 35,680,955 (GRCm39) |
T226M |
probably damaging |
Het |
Parp8 |
A |
T |
13: 117,059,120 (GRCm39) |
H168Q |
probably benign |
Het |
Pik3cg |
G |
A |
12: 32,247,341 (GRCm39) |
|
probably benign |
Het |
Pla2g3 |
T |
C |
11: 3,442,000 (GRCm39) |
F388S |
probably damaging |
Het |
Plaat3 |
T |
A |
19: 7,535,366 (GRCm39) |
|
probably null |
Het |
Pllp |
T |
C |
8: 95,422,660 (GRCm39) |
|
probably null |
Het |
Ppfibp1 |
T |
A |
6: 146,927,720 (GRCm39) |
V778E |
probably damaging |
Het |
Prkci |
T |
C |
3: 31,104,422 (GRCm39) |
V595A |
possibly damaging |
Het |
Prune2 |
T |
A |
19: 17,101,319 (GRCm39) |
D2274E |
probably damaging |
Het |
Rad51ap2 |
A |
T |
12: 11,507,601 (GRCm39) |
T508S |
probably benign |
Het |
Ranbp3l |
T |
C |
15: 9,058,850 (GRCm39) |
|
probably null |
Het |
Rfc1 |
A |
C |
5: 65,476,742 (GRCm39) |
|
probably null |
Het |
Rin3 |
G |
A |
12: 102,335,834 (GRCm39) |
V502I |
probably damaging |
Het |
Rtn4rl1 |
A |
T |
11: 75,156,048 (GRCm39) |
H160L |
possibly damaging |
Het |
Rtn4rl1 |
A |
T |
11: 75,156,050 (GRCm39) |
I161F |
probably benign |
Het |
Serpinb9b |
A |
T |
13: 33,217,549 (GRCm39) |
M116L |
probably benign |
Het |
Sgo2a |
C |
T |
1: 58,037,308 (GRCm39) |
R18* |
probably null |
Het |
Sh3gl2 |
T |
A |
4: 85,265,408 (GRCm39) |
D31E |
probably benign |
Het |
Slc38a9 |
T |
C |
13: 112,859,823 (GRCm39) |
L419S |
probably damaging |
Het |
Sp8 |
AGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGG |
12: 118,812,555 (GRCm39) |
|
probably benign |
Het |
Spen |
G |
T |
4: 141,201,702 (GRCm39) |
N2308K |
possibly damaging |
Het |
Stac2 |
A |
G |
11: 97,933,611 (GRCm39) |
I156T |
possibly damaging |
Het |
Stambp |
A |
G |
6: 83,533,303 (GRCm39) |
F320S |
probably damaging |
Het |
Tas2r117 |
A |
T |
6: 132,780,161 (GRCm39) |
N100Y |
probably damaging |
Het |
Tigd3 |
A |
T |
19: 5,941,974 (GRCm39) |
S385R |
probably benign |
Het |
Tmem30c |
T |
C |
16: 57,097,152 (GRCm39) |
D136G |
possibly damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tnrc6c |
A |
G |
11: 117,613,447 (GRCm39) |
Q535R |
probably benign |
Het |
Trmt2a |
T |
C |
16: 18,067,393 (GRCm39) |
V22A |
probably benign |
Het |
Tut7 |
G |
A |
13: 59,929,828 (GRCm39) |
|
probably benign |
Het |
Wipf3 |
A |
C |
6: 54,460,817 (GRCm39) |
K88N |
probably damaging |
Het |
Zfp974 |
T |
C |
7: 27,611,416 (GRCm39) |
E103G |
possibly damaging |
Het |
Zscan10 |
C |
T |
17: 23,827,092 (GRCm39) |
T135I |
probably damaging |
Het |
|
Other mutations in Npc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02347:Npc1
|
APN |
18 |
12,332,691 (GRCm39) |
missense |
probably benign |
0.45 |
IGL02523:Npc1
|
APN |
18 |
12,334,629 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03018:Npc1
|
APN |
18 |
12,347,436 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03101:Npc1
|
APN |
18 |
12,331,596 (GRCm39) |
missense |
probably benign |
0.15 |
IGL03151:Npc1
|
APN |
18 |
12,352,332 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03377:Npc1
|
APN |
18 |
12,344,878 (GRCm39) |
missense |
probably benign |
|
PIT4354001:Npc1
|
UTSW |
18 |
12,344,592 (GRCm39) |
missense |
probably benign |
0.00 |
R0068:Npc1
|
UTSW |
18 |
12,341,424 (GRCm39) |
missense |
probably benign |
0.04 |
R0068:Npc1
|
UTSW |
18 |
12,341,424 (GRCm39) |
missense |
probably benign |
0.04 |
R0190:Npc1
|
UTSW |
18 |
12,324,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R0200:Npc1
|
UTSW |
18 |
12,352,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R0485:Npc1
|
UTSW |
18 |
12,346,503 (GRCm39) |
missense |
probably benign |
0.00 |
R0730:Npc1
|
UTSW |
18 |
12,352,382 (GRCm39) |
missense |
probably benign |
0.00 |
R1302:Npc1
|
UTSW |
18 |
12,328,142 (GRCm39) |
missense |
probably benign |
0.00 |
R1442:Npc1
|
UTSW |
18 |
12,328,106 (GRCm39) |
missense |
probably benign |
|
R1463:Npc1
|
UTSW |
18 |
12,324,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R1804:Npc1
|
UTSW |
18 |
12,356,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R1808:Npc1
|
UTSW |
18 |
12,327,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R1928:Npc1
|
UTSW |
18 |
12,346,435 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2112:Npc1
|
UTSW |
18 |
12,346,529 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2117:Npc1
|
UTSW |
18 |
12,329,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R2157:Npc1
|
UTSW |
18 |
12,324,866 (GRCm39) |
missense |
probably damaging |
0.98 |
R2279:Npc1
|
UTSW |
18 |
12,330,236 (GRCm39) |
splice site |
probably null |
|
R2311:Npc1
|
UTSW |
18 |
12,335,240 (GRCm39) |
missense |
probably benign |
|
R2446:Npc1
|
UTSW |
18 |
12,347,396 (GRCm39) |
missense |
probably benign |
0.01 |
R3004:Npc1
|
UTSW |
18 |
12,330,311 (GRCm39) |
missense |
probably benign |
0.03 |
R4090:Npc1
|
UTSW |
18 |
12,331,219 (GRCm39) |
splice site |
probably null |
|
R4304:Npc1
|
UTSW |
18 |
12,343,584 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4308:Npc1
|
UTSW |
18 |
12,343,584 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4564:Npc1
|
UTSW |
18 |
12,324,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R4786:Npc1
|
UTSW |
18 |
12,332,554 (GRCm39) |
missense |
probably benign |
0.35 |
R5243:Npc1
|
UTSW |
18 |
12,331,688 (GRCm39) |
intron |
probably benign |
|
R5404:Npc1
|
UTSW |
18 |
12,346,356 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5823:Npc1
|
UTSW |
18 |
12,324,846 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6080:Npc1
|
UTSW |
18 |
12,352,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R6215:Npc1
|
UTSW |
18 |
12,369,249 (GRCm39) |
small deletion |
probably benign |
|
R6301:Npc1
|
UTSW |
18 |
12,330,302 (GRCm39) |
missense |
probably benign |
0.00 |
R6476:Npc1
|
UTSW |
18 |
12,334,751 (GRCm39) |
nonsense |
probably null |
|
R7007:Npc1
|
UTSW |
18 |
12,343,605 (GRCm39) |
missense |
probably benign |
0.02 |
R7020:Npc1
|
UTSW |
18 |
12,331,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R7048:Npc1
|
UTSW |
18 |
12,337,822 (GRCm39) |
splice site |
probably null |
|
R7116:Npc1
|
UTSW |
18 |
12,344,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R7153:Npc1
|
UTSW |
18 |
12,346,348 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7359:Npc1
|
UTSW |
18 |
12,328,237 (GRCm39) |
missense |
probably benign |
0.05 |
R7382:Npc1
|
UTSW |
18 |
12,334,763 (GRCm39) |
missense |
probably damaging |
0.99 |
R7765:Npc1
|
UTSW |
18 |
12,328,105 (GRCm39) |
missense |
probably benign |
0.01 |
R8047:Npc1
|
UTSW |
18 |
12,346,374 (GRCm39) |
missense |
probably benign |
0.00 |
R8094:Npc1
|
UTSW |
18 |
12,327,297 (GRCm39) |
missense |
probably benign |
|
R8161:Npc1
|
UTSW |
18 |
12,328,129 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8310:Npc1
|
UTSW |
18 |
12,326,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R8821:Npc1
|
UTSW |
18 |
12,333,877 (GRCm39) |
missense |
probably benign |
0.01 |
R8831:Npc1
|
UTSW |
18 |
12,333,877 (GRCm39) |
missense |
probably benign |
0.01 |
R8847:Npc1
|
UTSW |
18 |
12,323,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R9022:Npc1
|
UTSW |
18 |
12,346,422 (GRCm39) |
missense |
probably benign |
|
R9343:Npc1
|
UTSW |
18 |
12,334,769 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9460:Npc1
|
UTSW |
18 |
12,346,398 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9723:Npc1
|
UTSW |
18 |
12,343,649 (GRCm39) |
missense |
probably benign |
|
X0012:Npc1
|
UTSW |
18 |
12,326,368 (GRCm39) |
splice site |
probably null |
|
|