Other mutations in this stock |
Total: 100 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
T |
11: 110,205,384 (GRCm39) |
I299N |
probably damaging |
Het |
Abcc8 |
T |
C |
7: 45,803,936 (GRCm39) |
T413A |
probably benign |
Het |
Actc1 |
G |
A |
2: 113,880,010 (GRCm39) |
S201F |
probably damaging |
Het |
Adam30 |
G |
A |
3: 98,069,841 (GRCm39) |
C558Y |
probably damaging |
Het |
Adcy4 |
T |
A |
14: 56,016,396 (GRCm39) |
I352F |
probably damaging |
Het |
Adgrl4 |
A |
T |
3: 151,216,233 (GRCm39) |
D472V |
probably damaging |
Het |
Afap1l2 |
T |
A |
19: 56,918,583 (GRCm39) |
M117L |
probably benign |
Het |
AI597479 |
T |
C |
1: 43,152,389 (GRCm39) |
V229A |
probably damaging |
Het |
Ascc1 |
T |
C |
10: 59,898,338 (GRCm39) |
V267A |
probably benign |
Het |
Asxl3 |
A |
G |
18: 22,649,810 (GRCm39) |
S600G |
possibly damaging |
Het |
Atg14 |
T |
C |
14: 47,786,451 (GRCm39) |
I268V |
probably benign |
Het |
Bcas1 |
C |
T |
2: 170,260,584 (GRCm39) |
V32I |
probably benign |
Het |
Cacna1c |
G |
T |
6: 118,570,955 (GRCm39) |
D2106E |
probably benign |
Het |
Cacna1i |
A |
G |
15: 80,263,255 (GRCm39) |
H1440R |
possibly damaging |
Het |
Catsper2 |
G |
A |
2: 121,236,927 (GRCm39) |
T240M |
probably damaging |
Het |
Ccn4 |
T |
A |
15: 66,791,120 (GRCm39) |
N307K |
possibly damaging |
Het |
Cd163 |
A |
G |
6: 124,288,406 (GRCm39) |
E279G |
probably damaging |
Het |
Cdx2 |
C |
T |
5: 147,243,470 (GRCm39) |
S108N |
probably benign |
Het |
Cenpf |
A |
T |
1: 189,386,936 (GRCm39) |
N1781K |
probably damaging |
Het |
Cgref1 |
T |
A |
5: 31,093,338 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
C |
T |
7: 7,299,763 (GRCm39) |
W22* |
probably null |
Het |
Cntn2 |
A |
G |
1: 132,448,875 (GRCm39) |
|
probably null |
Het |
Cntn5 |
C |
T |
9: 9,673,801 (GRCm39) |
|
probably null |
Het |
Cpeb3 |
A |
G |
19: 37,116,500 (GRCm39) |
M377T |
probably benign |
Het |
Cryge |
T |
A |
1: 65,087,997 (GRCm39) |
R135* |
probably null |
Het |
Ctdsp2 |
C |
A |
10: 126,829,790 (GRCm39) |
|
probably benign |
Het |
Ctsll3 |
G |
A |
13: 60,949,089 (GRCm39) |
|
probably benign |
Het |
Cuzd1 |
C |
A |
7: 130,918,371 (GRCm39) |
G189C |
probably damaging |
Het |
Dmbt1 |
T |
A |
7: 130,711,366 (GRCm39) |
|
probably null |
Het |
Dnai4 |
T |
A |
4: 102,944,615 (GRCm39) |
L245F |
possibly damaging |
Het |
Dnajc13 |
A |
T |
9: 104,056,139 (GRCm39) |
S1587R |
probably damaging |
Het |
Dock4 |
GCTCAGTGTATC |
GC |
12: 40,866,324 (GRCm39) |
|
probably null |
Het |
Dock6 |
T |
C |
9: 21,743,202 (GRCm39) |
H701R |
probably damaging |
Het |
Edem3 |
A |
G |
1: 151,683,261 (GRCm39) |
T646A |
possibly damaging |
Het |
Esrra |
A |
C |
19: 6,889,823 (GRCm39) |
D160E |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,143,452 (GRCm39) |
T2868A |
probably benign |
Het |
Galnt7 |
T |
A |
8: 58,105,892 (GRCm39) |
M41L |
probably benign |
Het |
Gbf1 |
T |
C |
19: 46,259,984 (GRCm39) |
|
probably benign |
Het |
Glyat |
A |
G |
19: 12,625,467 (GRCm39) |
N63S |
probably damaging |
Het |
Gm9376 |
A |
T |
14: 118,504,894 (GRCm39) |
M109L |
probably benign |
Het |
H2-M10.3 |
A |
G |
17: 36,677,612 (GRCm39) |
V222A |
probably damaging |
Het |
Ifna12 |
T |
G |
4: 88,521,193 (GRCm39) |
D118A |
possibly damaging |
Het |
Inpp5j |
T |
C |
11: 3,451,147 (GRCm39) |
M501V |
probably benign |
Het |
Itpr3 |
C |
T |
17: 27,336,128 (GRCm39) |
|
probably benign |
Het |
Ivns1abp |
A |
G |
1: 151,237,291 (GRCm39) |
N527S |
probably benign |
Het |
Kif13a |
T |
C |
13: 47,083,088 (GRCm39) |
T4A |
possibly damaging |
Het |
Kif3b |
T |
C |
2: 153,172,073 (GRCm39) |
*748Q |
probably null |
Het |
Klf8 |
C |
T |
X: 152,167,677 (GRCm39) |
Q241* |
probably null |
Het |
Kras |
A |
T |
6: 145,170,787 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
C |
A |
2: 31,777,423 (GRCm39) |
T23K |
probably benign |
Het |
Lrrc74b |
T |
A |
16: 17,377,737 (GRCm39) |
H47L |
probably benign |
Het |
Ly75 |
A |
G |
2: 60,199,101 (GRCm39) |
|
probably null |
Het |
Map3k21 |
G |
A |
8: 126,668,876 (GRCm39) |
G821S |
probably benign |
Het |
Mettl14 |
A |
G |
3: 123,167,722 (GRCm39) |
|
probably benign |
Het |
Mettl5 |
T |
C |
2: 69,715,590 (GRCm39) |
|
probably benign |
Het |
Mier3 |
A |
G |
13: 111,848,289 (GRCm39) |
D301G |
probably damaging |
Het |
Mipep |
T |
C |
14: 61,025,595 (GRCm39) |
|
probably benign |
Het |
Mmp21 |
T |
C |
7: 133,277,588 (GRCm39) |
|
probably null |
Het |
Msh4 |
A |
G |
3: 153,563,207 (GRCm39) |
L723P |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,412,817 (GRCm39) |
V1921A |
unknown |
Het |
Myo1e |
G |
A |
9: 70,246,038 (GRCm39) |
E410K |
possibly damaging |
Het |
Nav2 |
T |
G |
7: 49,185,710 (GRCm39) |
I951S |
probably damaging |
Het |
Or10j3 |
A |
G |
1: 173,030,934 (GRCm39) |
K4E |
probably benign |
Het |
Or2ab1 |
A |
G |
11: 58,488,947 (GRCm39) |
R242G |
probably damaging |
Het |
Or5a3 |
C |
T |
19: 12,400,252 (GRCm39) |
T193I |
probably benign |
Het |
Pacc1 |
T |
C |
1: 191,060,486 (GRCm39) |
|
probably benign |
Het |
Patl2 |
C |
T |
2: 121,954,216 (GRCm39) |
V452M |
probably benign |
Het |
Pcdh18 |
A |
G |
3: 49,709,854 (GRCm39) |
V487A |
probably damaging |
Het |
Pdzph1 |
C |
T |
17: 59,239,440 (GRCm39) |
A963T |
probably damaging |
Het |
Pkd1l1 |
C |
T |
11: 8,866,302 (GRCm39) |
V518M |
probably damaging |
Het |
Plcd3 |
A |
G |
11: 102,969,199 (GRCm39) |
F256S |
probably damaging |
Het |
Proc |
T |
C |
18: 32,266,491 (GRCm39) |
D112G |
possibly damaging |
Het |
Ptges2 |
T |
A |
2: 32,290,874 (GRCm39) |
|
probably null |
Het |
Pth2r |
A |
T |
1: 65,402,436 (GRCm39) |
R312W |
probably damaging |
Het |
Pttg1ip2 |
C |
A |
5: 5,502,073 (GRCm39) |
|
probably benign |
Het |
Rbbp6 |
C |
T |
7: 122,591,676 (GRCm39) |
H546Y |
possibly damaging |
Het |
Retreg2 |
A |
G |
1: 75,123,164 (GRCm39) |
E364G |
probably damaging |
Het |
Rxrb |
G |
A |
17: 34,253,134 (GRCm39) |
C185Y |
probably damaging |
Het |
Septin2 |
T |
A |
1: 93,427,037 (GRCm39) |
N133K |
possibly damaging |
Het |
Serpina3b |
T |
A |
12: 104,104,969 (GRCm39) |
S382T |
probably benign |
Het |
Serpinb9e |
T |
C |
13: 33,439,099 (GRCm39) |
F175S |
probably benign |
Het |
Slc19a2 |
C |
T |
1: 164,084,766 (GRCm39) |
H219Y |
probably damaging |
Het |
Slfn9 |
A |
T |
11: 82,872,524 (GRCm39) |
D737E |
possibly damaging |
Het |
Snx31 |
T |
C |
15: 36,539,444 (GRCm39) |
E144G |
probably null |
Het |
Sp2 |
A |
G |
11: 96,854,282 (GRCm39) |
|
probably benign |
Het |
Spag9 |
C |
T |
11: 94,007,663 (GRCm39) |
L1117F |
probably damaging |
Het |
Spata31e2 |
G |
T |
1: 26,721,222 (GRCm39) |
Y1319* |
probably null |
Het |
Syndig1l |
A |
T |
12: 84,727,137 (GRCm39) |
|
probably benign |
Het |
Sypl1 |
A |
T |
12: 33,024,332 (GRCm39) |
|
probably benign |
Het |
Tmem169 |
T |
C |
1: 72,339,855 (GRCm39) |
M95T |
probably benign |
Het |
Tnfrsf17 |
A |
G |
16: 11,133,066 (GRCm39) |
Y48C |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,657,859 (GRCm39) |
|
probably benign |
Het |
Uap1 |
G |
C |
1: 169,977,952 (GRCm39) |
H366Q |
probably benign |
Het |
Ulbp1 |
A |
G |
10: 7,396,557 (GRCm39) |
|
probably benign |
Het |
Urb2 |
T |
C |
8: 124,757,647 (GRCm39) |
V1118A |
probably benign |
Het |
Usp54 |
T |
C |
14: 20,600,258 (GRCm39) |
N1493S |
probably benign |
Het |
Vmn1r129 |
C |
A |
7: 21,094,655 (GRCm39) |
V188F |
probably benign |
Het |
Vmn1r226 |
A |
T |
17: 20,907,994 (GRCm39) |
L75F |
probably benign |
Het |
Yes1 |
T |
A |
5: 32,809,046 (GRCm39) |
S137R |
probably benign |
Het |
Zfp804b |
A |
G |
5: 7,229,372 (GRCm39) |
|
probably benign |
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 |
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 |
|
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 |
|
|