Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
G |
16: 4,653,549 (GRCm39) |
I33V |
unknown |
Het |
Abca1 |
ACGTCTTCACCAGGTAATC |
AC |
4: 53,061,509 (GRCm39) |
|
probably null |
Het |
Amotl2 |
T |
C |
9: 102,597,753 (GRCm39) |
S171P |
probably benign |
Het |
Armh4 |
T |
A |
14: 50,005,940 (GRCm39) |
E585V |
probably damaging |
Het |
Atf6 |
A |
T |
1: 170,682,710 (GRCm39) |
V34E |
probably benign |
Het |
Atrip |
T |
A |
9: 108,900,935 (GRCm39) |
I135F |
probably damaging |
Het |
Bglap |
A |
G |
3: 88,290,971 (GRCm39) |
Y87H |
probably damaging |
Het |
Camk2n1 |
G |
A |
4: 138,184,094 (GRCm39) |
V78I |
possibly damaging |
Het |
Ccdc92b |
A |
G |
11: 74,520,835 (GRCm39) |
I46V |
probably benign |
Het |
Cdc14b |
T |
C |
13: 64,367,704 (GRCm39) |
Y208C |
probably damaging |
Het |
Cdc42bpb |
C |
T |
12: 111,265,567 (GRCm39) |
R1455Q |
probably damaging |
Het |
Cep170 |
C |
A |
1: 176,621,100 (GRCm39) |
G26* |
probably null |
Het |
Cfap46 |
A |
G |
7: 139,259,819 (GRCm39) |
F217S |
probably damaging |
Het |
Col11a2 |
A |
T |
17: 34,278,142 (GRCm39) |
D691V |
probably damaging |
Het |
Col7a1 |
G |
A |
9: 108,789,078 (GRCm39) |
V798I |
unknown |
Het |
Coq8b |
CGCA |
CGCAGCA |
7: 26,933,405 (GRCm39) |
|
probably benign |
Het |
Coq8b |
GCA |
GCAACA |
7: 26,933,406 (GRCm39) |
|
probably benign |
Het |
Dcaf5 |
T |
C |
12: 80,385,468 (GRCm39) |
D886G |
probably benign |
Het |
Ern1 |
A |
G |
11: 106,312,776 (GRCm39) |
S202P |
probably damaging |
Het |
Etaa1 |
A |
G |
11: 17,897,233 (GRCm39) |
C295R |
probably damaging |
Het |
Ghdc |
C |
T |
11: 100,660,031 (GRCm39) |
A239T |
probably benign |
Het |
Grik4 |
T |
C |
9: 42,432,300 (GRCm39) |
D899G |
possibly damaging |
Het |
Hacd2 |
C |
A |
16: 34,922,354 (GRCm39) |
T181K |
possibly damaging |
Het |
Havcr2 |
T |
C |
11: 46,345,877 (GRCm39) |
L17P |
unknown |
Het |
Herc3 |
T |
C |
6: 58,864,424 (GRCm39) |
V686A |
probably damaging |
Het |
Hyal3 |
T |
C |
9: 107,462,671 (GRCm39) |
L235P |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,884,279 (GRCm39) |
Q988* |
probably null |
Het |
Itprid2 |
T |
C |
2: 79,492,996 (GRCm39) |
V1181A |
probably benign |
Het |
Krt32 |
T |
A |
11: 99,975,670 (GRCm39) |
|
probably null |
Het |
Krt33a |
T |
C |
11: 99,903,535 (GRCm39) |
N199S |
probably benign |
Het |
Lama1 |
T |
A |
17: 68,052,848 (GRCm39) |
S394T |
probably benign |
Het |
Lamp1 |
T |
C |
8: 13,222,545 (GRCm39) |
V243A |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,492,504 (GRCm39) |
Y1315C |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,384,453 (GRCm39) |
L1148* |
probably null |
Het |
Mill2 |
A |
G |
7: 18,575,419 (GRCm39) |
H42R |
probably benign |
Het |
Myo15a |
T |
C |
11: 60,392,909 (GRCm39) |
F2194L |
probably damaging |
Het |
Myo15b |
A |
T |
11: 115,769,224 (GRCm39) |
I1472F |
probably damaging |
Het |
Nasp |
T |
C |
4: 116,479,965 (GRCm39) |
S36G |
possibly damaging |
Het |
Nav2 |
A |
G |
7: 49,114,620 (GRCm39) |
Y868C |
probably damaging |
Het |
Niban1 |
T |
C |
1: 151,571,979 (GRCm39) |
I308T |
probably damaging |
Het |
Nono |
T |
C |
X: 100,485,429 (GRCm39) |
|
probably null |
Het |
Nsg2 |
T |
C |
11: 32,005,068 (GRCm39) |
V90A |
probably damaging |
Het |
Odf4 |
T |
C |
11: 68,812,983 (GRCm39) |
N225S |
possibly damaging |
Het |
Oosp2 |
C |
T |
19: 11,626,959 (GRCm39) |
|
probably null |
Het |
Or1j12 |
T |
C |
2: 36,343,043 (GRCm39) |
W149R |
probably damaging |
Het |
Or4c123 |
T |
C |
2: 89,127,128 (GRCm39) |
Y162C |
probably damaging |
Het |
Pcdhb4 |
A |
T |
18: 37,441,921 (GRCm39) |
R410S |
probably damaging |
Het |
Pde6c |
T |
A |
19: 38,145,967 (GRCm39) |
D418E |
probably damaging |
Het |
Pik3ap1 |
A |
T |
19: 41,262,776 (GRCm39) |
S799T |
probably benign |
Het |
Pitx2 |
A |
G |
3: 129,012,185 (GRCm39) |
N198S |
probably damaging |
Het |
Psmb3 |
T |
C |
11: 97,601,981 (GRCm39) |
F117S |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,418,249 (GRCm39) |
M1709K |
probably benign |
Het |
Recql5 |
G |
A |
11: 115,819,123 (GRCm39) |
R148* |
probably null |
Het |
Reep3 |
A |
G |
10: 66,871,678 (GRCm39) |
S97P |
probably damaging |
Het |
Rnase12 |
T |
A |
14: 51,294,463 (GRCm39) |
Q72L |
possibly damaging |
Het |
Scd3 |
T |
C |
19: 44,224,219 (GRCm39) |
Y151H |
probably benign |
Het |
Scn10a |
A |
T |
9: 119,520,520 (GRCm39) |
S127T |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,506,324 (GRCm39) |
W1522R |
probably damaging |
Het |
Senp7 |
A |
G |
16: 55,944,309 (GRCm39) |
H211R |
probably damaging |
Het |
Septin10 |
C |
T |
10: 59,016,841 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
T |
C |
13: 33,851,663 (GRCm39) |
V140A |
possibly damaging |
Het |
Sned1 |
A |
G |
1: 93,198,960 (GRCm39) |
E457G |
probably benign |
Het |
Spag17 |
A |
C |
3: 99,847,298 (GRCm39) |
M76L |
probably benign |
Het |
Spata31e2 |
C |
A |
1: 26,721,395 (GRCm39) |
V1262F |
probably benign |
Het |
Spata31e3 |
C |
T |
13: 50,399,527 (GRCm39) |
G933E |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,466,707 (GRCm39) |
E105V |
possibly damaging |
Het |
Stoml3 |
T |
A |
3: 53,412,866 (GRCm39) |
D173E |
possibly damaging |
Het |
Sun3 |
T |
C |
11: 8,988,296 (GRCm39) |
I9V |
probably benign |
Het |
Svil |
T |
C |
18: 5,117,059 (GRCm39) |
W2165R |
probably damaging |
Het |
Tbl2 |
T |
A |
5: 135,186,454 (GRCm39) |
S184T |
possibly damaging |
Het |
Tdrd7 |
A |
T |
4: 45,965,474 (GRCm39) |
T31S |
probably benign |
Het |
Tmeff1 |
A |
G |
4: 48,614,960 (GRCm39) |
N139S |
possibly damaging |
Het |
Trip13 |
T |
C |
13: 74,076,043 (GRCm39) |
R199G |
probably damaging |
Het |
Tshb |
G |
T |
3: 102,684,831 (GRCm39) |
Y124* |
probably null |
Het |
Ttn |
T |
C |
2: 76,560,366 (GRCm39) |
E29345G |
probably damaging |
Het |
Usp33 |
T |
A |
3: 152,085,223 (GRCm39) |
S620T |
probably benign |
Het |
Vipr1 |
G |
A |
9: 121,497,540 (GRCm39) |
G353R |
probably damaging |
Het |
Vipr1 |
G |
T |
9: 121,497,541 (GRCm39) |
G353V |
probably damaging |
Het |
Vps13c |
A |
T |
9: 67,793,558 (GRCm39) |
D437V |
probably damaging |
Het |
Ylpm1 |
T |
A |
12: 85,062,192 (GRCm39) |
S240T |
probably damaging |
Het |
Zfp772 |
A |
G |
7: 7,206,629 (GRCm39) |
I354T |
probably benign |
Het |
Zfp959 |
T |
A |
17: 56,204,231 (GRCm39) |
Y86* |
probably null |
Het |
|
Other mutations in Npc1l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Npc1l1
|
APN |
11 |
6,174,199 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01348:Npc1l1
|
APN |
11 |
6,177,974 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01891:Npc1l1
|
APN |
11 |
6,164,280 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01897:Npc1l1
|
APN |
11 |
6,177,879 (GRCm39) |
missense |
probably benign |
|
IGL02098:Npc1l1
|
APN |
11 |
6,164,581 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02121:Npc1l1
|
APN |
11 |
6,178,157 (GRCm39) |
missense |
probably benign |
|
IGL02724:Npc1l1
|
APN |
11 |
6,164,684 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02947:Npc1l1
|
APN |
11 |
6,179,246 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03328:Npc1l1
|
APN |
11 |
6,168,643 (GRCm39) |
nonsense |
probably null |
|
R0137:Npc1l1
|
UTSW |
11 |
6,178,148 (GRCm39) |
nonsense |
probably null |
|
R0322:Npc1l1
|
UTSW |
11 |
6,179,042 (GRCm39) |
missense |
probably benign |
|
R0352:Npc1l1
|
UTSW |
11 |
6,173,076 (GRCm39) |
missense |
probably benign |
0.00 |
R0492:Npc1l1
|
UTSW |
11 |
6,173,040 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0918:Npc1l1
|
UTSW |
11 |
6,168,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R1300:Npc1l1
|
UTSW |
11 |
6,177,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R1455:Npc1l1
|
UTSW |
11 |
6,178,174 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1588:Npc1l1
|
UTSW |
11 |
6,167,785 (GRCm39) |
missense |
probably benign |
0.01 |
R1803:Npc1l1
|
UTSW |
11 |
6,178,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R1882:Npc1l1
|
UTSW |
11 |
6,167,473 (GRCm39) |
splice site |
probably null |
|
R1944:Npc1l1
|
UTSW |
11 |
6,164,588 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1945:Npc1l1
|
UTSW |
11 |
6,164,588 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3155:Npc1l1
|
UTSW |
11 |
6,171,840 (GRCm39) |
missense |
probably benign |
|
R4343:Npc1l1
|
UTSW |
11 |
6,167,773 (GRCm39) |
missense |
probably benign |
|
R4504:Npc1l1
|
UTSW |
11 |
6,178,741 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4610:Npc1l1
|
UTSW |
11 |
6,178,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R4807:Npc1l1
|
UTSW |
11 |
6,168,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R4829:Npc1l1
|
UTSW |
11 |
6,164,010 (GRCm39) |
critical splice donor site |
probably null |
|
R5135:Npc1l1
|
UTSW |
11 |
6,174,245 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5290:Npc1l1
|
UTSW |
11 |
6,172,221 (GRCm39) |
missense |
probably benign |
0.00 |
R5369:Npc1l1
|
UTSW |
11 |
6,167,705 (GRCm39) |
critical splice donor site |
probably null |
|
R5388:Npc1l1
|
UTSW |
11 |
6,164,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R5532:Npc1l1
|
UTSW |
11 |
6,174,245 (GRCm39) |
missense |
probably damaging |
0.98 |
R5540:Npc1l1
|
UTSW |
11 |
6,164,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R5754:Npc1l1
|
UTSW |
11 |
6,177,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R5760:Npc1l1
|
UTSW |
11 |
6,179,031 (GRCm39) |
missense |
probably benign |
0.02 |
R6057:Npc1l1
|
UTSW |
11 |
6,167,806 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6388:Npc1l1
|
UTSW |
11 |
6,174,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R6644:Npc1l1
|
UTSW |
11 |
6,164,014 (GRCm39) |
missense |
probably damaging |
0.98 |
R6644:Npc1l1
|
UTSW |
11 |
6,164,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R6756:Npc1l1
|
UTSW |
11 |
6,165,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R6790:Npc1l1
|
UTSW |
11 |
6,164,260 (GRCm39) |
splice site |
probably null |
|
R7006:Npc1l1
|
UTSW |
11 |
6,167,731 (GRCm39) |
missense |
probably benign |
|
R7062:Npc1l1
|
UTSW |
11 |
6,167,807 (GRCm39) |
missense |
probably benign |
|
R7273:Npc1l1
|
UTSW |
11 |
6,168,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R7383:Npc1l1
|
UTSW |
11 |
6,167,777 (GRCm39) |
missense |
probably benign |
0.30 |
R8003:Npc1l1
|
UTSW |
11 |
6,165,129 (GRCm39) |
missense |
probably benign |
0.01 |
R8081:Npc1l1
|
UTSW |
11 |
6,167,768 (GRCm39) |
missense |
probably benign |
0.01 |
R8272:Npc1l1
|
UTSW |
11 |
6,179,327 (GRCm39) |
nonsense |
probably null |
|
R8549:Npc1l1
|
UTSW |
11 |
6,168,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R8849:Npc1l1
|
UTSW |
11 |
6,179,038 (GRCm39) |
missense |
probably damaging |
0.97 |
R8887:Npc1l1
|
UTSW |
11 |
6,175,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R8907:Npc1l1
|
UTSW |
11 |
6,178,157 (GRCm39) |
missense |
probably benign |
0.28 |
R9102:Npc1l1
|
UTSW |
11 |
6,164,684 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9289:Npc1l1
|
UTSW |
11 |
6,168,355 (GRCm39) |
nonsense |
probably null |
|
R9626:Npc1l1
|
UTSW |
11 |
6,177,854 (GRCm39) |
missense |
probably benign |
0.05 |
R9785:Npc1l1
|
UTSW |
11 |
6,180,090 (GRCm39) |
missense |
unknown |
|
X0022:Npc1l1
|
UTSW |
11 |
6,178,058 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Npc1l1
|
UTSW |
11 |
6,175,209 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1177:Npc1l1
|
UTSW |
11 |
6,168,681 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Npc1l1
|
UTSW |
11 |
6,164,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|