Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
T |
C |
11: 84,336,502 (GRCm39) |
K466E |
probably damaging |
Het |
Abcc3 |
T |
C |
11: 94,245,900 (GRCm39) |
D1245G |
probably damaging |
Het |
Adam12 |
T |
C |
7: 133,576,145 (GRCm39) |
|
probably null |
Het |
Akap11 |
A |
G |
14: 78,748,193 (GRCm39) |
V1398A |
probably benign |
Het |
Ank1 |
T |
G |
8: 23,586,828 (GRCm39) |
L461R |
probably damaging |
Het |
Ankfn1 |
T |
C |
11: 89,332,792 (GRCm39) |
S402G |
possibly damaging |
Het |
Arhgef40 |
A |
C |
14: 52,234,431 (GRCm39) |
E911D |
probably damaging |
Het |
Atp2b1 |
C |
T |
10: 98,815,676 (GRCm39) |
Q107* |
probably null |
Het |
Cacng3 |
T |
A |
7: 122,271,008 (GRCm39) |
C4* |
probably null |
Het |
Cds1 |
G |
A |
5: 101,962,299 (GRCm39) |
V305M |
probably damaging |
Het |
Cecr2 |
T |
G |
6: 120,738,758 (GRCm39) |
F1162V |
probably damaging |
Het |
Cfap70 |
A |
T |
14: 20,498,631 (GRCm39) |
Y19N |
probably damaging |
Het |
Chrm5 |
A |
G |
2: 112,311,065 (GRCm39) |
V17A |
probably benign |
Het |
Col20a1 |
T |
C |
2: 180,642,231 (GRCm39) |
I714T |
probably damaging |
Het |
Cpeb2 |
T |
A |
5: 43,419,119 (GRCm39) |
M156K |
possibly damaging |
Het |
Cstdc6 |
T |
C |
16: 36,143,386 (GRCm39) |
|
probably null |
Het |
Defb25 |
C |
A |
2: 152,464,332 (GRCm39) |
V71L |
probably benign |
Het |
Dhx35 |
A |
T |
2: 158,671,543 (GRCm39) |
M325L |
probably benign |
Het |
Dhx57 |
A |
T |
17: 80,558,902 (GRCm39) |
L1019H |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,046,403 (GRCm39) |
D3195V |
probably damaging |
Het |
Dph5 |
A |
G |
3: 115,722,352 (GRCm39) |
S277G |
probably benign |
Het |
Dpm1 |
C |
A |
2: 168,065,075 (GRCm39) |
|
probably null |
Het |
Dsg1a |
A |
T |
18: 20,473,995 (GRCm39) |
M1023L |
probably benign |
Het |
Egf |
A |
G |
3: 129,499,882 (GRCm39) |
Y252H |
probably benign |
Het |
Egf |
A |
G |
3: 129,531,198 (GRCm39) |
S126P |
probably damaging |
Het |
Enam |
T |
C |
5: 88,640,886 (GRCm39) |
W183R |
possibly damaging |
Het |
Foxn1 |
T |
C |
11: 78,251,866 (GRCm39) |
Y455C |
probably damaging |
Het |
Iars1 |
A |
T |
13: 49,879,678 (GRCm39) |
D983V |
possibly damaging |
Het |
Ikzf4 |
C |
A |
10: 128,470,545 (GRCm39) |
G325V |
probably damaging |
Het |
Il1rl1 |
T |
A |
1: 40,480,463 (GRCm39) |
W31R |
possibly damaging |
Het |
Ip6k3 |
C |
T |
17: 27,363,999 (GRCm39) |
D350N |
probably damaging |
Het |
Irgc |
T |
C |
7: 24,131,431 (GRCm39) |
D462G |
probably benign |
Het |
Itprid1 |
T |
C |
6: 55,874,941 (GRCm39) |
L297P |
probably benign |
Het |
Jph3 |
A |
G |
8: 122,511,572 (GRCm39) |
E520G |
probably benign |
Het |
Kcna2 |
T |
A |
3: 107,012,476 (GRCm39) |
D352E |
probably benign |
Het |
Klk4 |
T |
A |
7: 43,534,785 (GRCm39) |
I248N |
probably damaging |
Het |
Krtap16-1 |
T |
C |
11: 99,876,123 (GRCm39) |
Y427C |
probably damaging |
Het |
Lgr4 |
A |
G |
2: 109,801,035 (GRCm39) |
|
probably null |
Het |
Lhpp |
C |
T |
7: 132,212,406 (GRCm39) |
|
probably benign |
Het |
Lypd3 |
T |
A |
7: 24,339,656 (GRCm39) |
V241D |
probably damaging |
Het |
Lyz2 |
T |
A |
10: 117,116,678 (GRCm39) |
N57Y |
possibly damaging |
Het |
Man1a |
A |
G |
10: 53,950,594 (GRCm39) |
V176A |
probably damaging |
Het |
Mcm4 |
G |
A |
16: 15,447,503 (GRCm39) |
T487I |
probably benign |
Het |
Mettl21c |
T |
A |
1: 44,052,814 (GRCm39) |
I68F |
probably damaging |
Het |
Miip |
T |
A |
4: 147,946,720 (GRCm39) |
T313S |
probably damaging |
Het |
Minar2 |
A |
G |
18: 59,195,531 (GRCm39) |
|
probably null |
Het |
Mog |
A |
T |
17: 37,323,311 (GRCm39) |
I209K |
probably damaging |
Het |
Myo1c |
C |
A |
11: 75,563,008 (GRCm39) |
D997E |
probably benign |
Het |
Nploc4 |
A |
G |
11: 120,304,507 (GRCm39) |
L238P |
probably damaging |
Het |
Opa1 |
A |
G |
16: 29,432,947 (GRCm39) |
N544S |
probably benign |
Het |
Or2j6 |
T |
C |
7: 139,980,788 (GRCm39) |
Y57C |
probably damaging |
Het |
Or2v1 |
T |
A |
11: 49,025,874 (GRCm39) |
M285K |
probably damaging |
Het |
Or6k6 |
T |
C |
1: 173,945,078 (GRCm39) |
H168R |
probably benign |
Het |
Pam |
C |
T |
1: 97,822,126 (GRCm39) |
|
probably null |
Het |
Pdgfra |
T |
C |
5: 75,324,438 (GRCm39) |
Y98H |
probably damaging |
Het |
Plcz1 |
C |
T |
6: 139,936,459 (GRCm39) |
R590H |
probably damaging |
Het |
Plxdc1 |
T |
C |
11: 97,824,838 (GRCm39) |
Y339C |
probably damaging |
Het |
Plxna1 |
T |
C |
6: 89,300,575 (GRCm39) |
N1583S |
probably damaging |
Het |
Plxna4 |
C |
T |
6: 32,174,023 (GRCm39) |
V1191M |
probably damaging |
Het |
Polk |
T |
A |
13: 96,633,330 (GRCm39) |
N238Y |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,521,018 (GRCm39) |
N718S |
probably benign |
Het |
Rsrc1 |
A |
T |
3: 67,088,194 (GRCm39) |
H176L |
probably damaging |
Het |
Sbno1 |
T |
C |
5: 124,522,604 (GRCm39) |
D1072G |
probably damaging |
Het |
Scmh1 |
A |
G |
4: 120,341,028 (GRCm39) |
K238R |
probably damaging |
Het |
Senp7 |
A |
G |
16: 55,944,236 (GRCm39) |
T187A |
possibly damaging |
Het |
Slc12a4 |
T |
C |
8: 106,678,249 (GRCm39) |
R315G |
probably benign |
Het |
Slc16a10 |
A |
G |
10: 39,916,612 (GRCm39) |
V430A |
probably benign |
Het |
Slc26a7 |
T |
C |
4: 14,621,317 (GRCm39) |
D23G |
probably benign |
Het |
Slc28a2b |
T |
A |
2: 122,357,928 (GRCm39) |
*661R |
probably null |
Het |
Slc7a7 |
A |
G |
14: 54,615,259 (GRCm39) |
L246P |
probably damaging |
Het |
Spata7 |
T |
A |
12: 98,629,428 (GRCm39) |
S332T |
probably benign |
Het |
Spsb1 |
A |
G |
4: 149,982,673 (GRCm39) |
*274R |
probably null |
Het |
Sspo |
T |
G |
6: 48,463,349 (GRCm39) |
V3767G |
probably null |
Het |
Syt10 |
C |
A |
15: 89,711,144 (GRCm39) |
A130S |
probably benign |
Het |
Tgm6 |
T |
A |
2: 129,994,865 (GRCm39) |
|
probably null |
Het |
Them7 |
A |
C |
2: 105,128,262 (GRCm39) |
N81T |
probably damaging |
Het |
Tinag |
C |
A |
9: 76,859,217 (GRCm39) |
A464S |
probably damaging |
Het |
Tmem217 |
T |
G |
17: 29,745,284 (GRCm39) |
I149L |
probably benign |
Het |
Trp53rkb |
T |
G |
2: 166,637,603 (GRCm39) |
D186E |
probably damaging |
Het |
Vmn1r20 |
T |
C |
6: 57,409,084 (GRCm39) |
Y137H |
probably damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,547,379 (GRCm39) |
L240F |
probably benign |
Het |
Vmn1r64 |
A |
G |
7: 5,886,817 (GRCm39) |
M242T |
probably benign |
Het |
Xkr4 |
T |
C |
1: 3,740,886 (GRCm39) |
N229S |
probably benign |
Het |
Zcchc2 |
T |
A |
1: 105,931,853 (GRCm39) |
L352M |
probably damaging |
Het |
Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
Zfp638 |
T |
C |
6: 83,944,336 (GRCm39) |
L1018P |
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 |
R0485:Npc1
|
UTSW |
18 |
12,346,503 (GRCm39) |
missense |
probably benign |
0.00 |
R0699:Npc1
|
UTSW |
18 |
12,343,632 (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 |
|
|