Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930533L02Rik |
T |
C |
7: 124,917,767 (GRCm39) |
M53T |
unknown |
Het |
Abcb11 |
T |
A |
2: 69,089,820 (GRCm39) |
|
probably benign |
Het |
Acap2 |
C |
G |
16: 30,929,763 (GRCm39) |
A432P |
probably damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,146,249 (GRCm39) |
R302G |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,954,536 (GRCm39) |
E558G |
probably damaging |
Het |
Ap2b1 |
T |
G |
11: 83,241,944 (GRCm39) |
S608A |
possibly damaging |
Het |
Atp13a3 |
T |
A |
16: 30,171,116 (GRCm39) |
T310S |
possibly damaging |
Het |
Atp6v1b1 |
T |
C |
6: 83,734,834 (GRCm39) |
V382A |
probably benign |
Het |
Atp6v1g1 |
T |
A |
4: 63,468,304 (GRCm39) |
F102L |
probably benign |
Het |
B430306N03Rik |
T |
A |
17: 48,623,810 (GRCm39) |
V37D |
probably damaging |
Het |
Cacna1d |
T |
C |
14: 29,769,314 (GRCm39) |
Y1872C |
possibly damaging |
Het |
Carf |
T |
A |
1: 60,148,570 (GRCm39) |
Y54N |
probably damaging |
Het |
Cct5 |
T |
C |
15: 31,594,349 (GRCm39) |
E256G |
probably damaging |
Het |
Cd5 |
A |
G |
19: 10,700,620 (GRCm39) |
S295P |
probably benign |
Het |
Cenpb |
T |
C |
2: 131,020,517 (GRCm39) |
|
probably benign |
Het |
Cntnap3 |
A |
G |
13: 64,942,076 (GRCm39) |
M218T |
possibly damaging |
Het |
Colec11 |
C |
T |
12: 28,644,786 (GRCm39) |
R236H |
probably damaging |
Het |
Crem |
T |
A |
18: 3,288,098 (GRCm39) |
|
probably benign |
Het |
Csnk2a1 |
A |
G |
2: 152,096,201 (GRCm39) |
N58S |
probably benign |
Het |
Cyp2a4 |
T |
G |
7: 26,011,733 (GRCm39) |
M318R |
probably damaging |
Het |
Dhrs1 |
T |
A |
14: 55,981,116 (GRCm39) |
Q98L |
probably null |
Het |
Dnah11 |
G |
T |
12: 118,077,606 (GRCm39) |
Q1296K |
possibly damaging |
Het |
Edc4 |
T |
A |
8: 106,614,634 (GRCm39) |
D105E |
probably damaging |
Het |
Eid2b |
C |
T |
7: 27,977,198 (GRCm39) |
|
probably benign |
Het |
Exoc1 |
A |
T |
5: 76,680,693 (GRCm39) |
K28* |
probably null |
Het |
Fam114a1 |
A |
G |
5: 65,137,402 (GRCm39) |
D115G |
probably benign |
Het |
Fam151a |
A |
T |
4: 106,592,760 (GRCm39) |
|
probably null |
Het |
Gc |
T |
C |
5: 89,586,201 (GRCm39) |
Y313C |
probably damaging |
Het |
Gdpd1 |
A |
G |
11: 86,926,094 (GRCm39) |
Y284H |
probably benign |
Het |
Gm21957 |
T |
A |
7: 124,818,878 (GRCm39) |
|
noncoding transcript |
Het |
Golm1 |
G |
A |
13: 59,792,999 (GRCm39) |
Q169* |
probably null |
Het |
Greb1l |
T |
C |
18: 10,523,281 (GRCm39) |
V813A |
probably damaging |
Het |
Itih1 |
C |
T |
14: 30,659,800 (GRCm39) |
A279T |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lama1 |
T |
C |
17: 68,124,618 (GRCm39) |
C2893R |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,657,887 (GRCm39) |
N334K |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,472,642 (GRCm39) |
D1053G |
probably damaging |
Het |
Map3k20 |
A |
G |
2: 72,228,729 (GRCm39) |
K316R |
probably benign |
Het |
Mapre3 |
A |
C |
5: 31,020,546 (GRCm39) |
|
probably null |
Het |
Mgam |
T |
A |
6: 40,737,962 (GRCm39) |
|
probably null |
Het |
Mical2 |
A |
C |
7: 111,917,810 (GRCm39) |
H389P |
probably benign |
Het |
Mtmr2 |
A |
G |
9: 13,711,248 (GRCm39) |
D347G |
probably damaging |
Het |
Nbeal2 |
G |
A |
9: 110,463,139 (GRCm39) |
L1309F |
probably benign |
Het |
Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
Nodal |
A |
T |
10: 61,259,077 (GRCm39) |
E171D |
possibly damaging |
Het |
Notch2 |
T |
C |
3: 98,009,683 (GRCm39) |
S537P |
probably damaging |
Het |
Obox6 |
A |
G |
7: 15,567,532 (GRCm39) |
L305S |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,969,082 (GRCm39) |
D2715G |
probably damaging |
Het |
Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
Or5g26 |
A |
C |
2: 85,494,090 (GRCm39) |
S229R |
probably benign |
Het |
Pcca |
T |
C |
14: 122,923,527 (GRCm39) |
S404P |
probably damaging |
Het |
Pcdh10 |
T |
C |
3: 45,334,906 (GRCm39) |
S407P |
probably damaging |
Het |
Plekha5 |
C |
A |
6: 140,516,044 (GRCm39) |
|
probably null |
Het |
Ptprs |
T |
C |
17: 56,761,984 (GRCm39) |
I43V |
probably null |
Het |
Pygm |
G |
A |
19: 6,441,511 (GRCm39) |
|
probably null |
Het |
Rab7 |
C |
T |
6: 87,989,300 (GRCm39) |
V57I |
probably benign |
Het |
Rasl10a |
A |
G |
11: 5,009,431 (GRCm39) |
|
probably null |
Het |
Rergl |
T |
C |
6: 139,471,832 (GRCm39) |
T106A |
probably benign |
Het |
Rnf17 |
T |
G |
14: 56,720,837 (GRCm39) |
V1023G |
probably damaging |
Het |
Rnf25 |
T |
A |
1: 74,633,126 (GRCm39) |
R409W |
probably damaging |
Het |
Rps6ka1 |
T |
C |
4: 133,600,280 (GRCm39) |
M1V |
probably null |
Het |
Rps6ka5 |
T |
C |
12: 100,585,874 (GRCm39) |
T140A |
possibly damaging |
Het |
Sbno2 |
T |
A |
10: 79,893,690 (GRCm39) |
I1204F |
possibly damaging |
Het |
Serpina16 |
A |
T |
12: 103,641,521 (GRCm39) |
I68N |
probably damaging |
Het |
Slc35a5 |
A |
G |
16: 44,964,628 (GRCm39) |
S202P |
probably damaging |
Het |
Slc35g3 |
G |
C |
11: 69,651,772 (GRCm39) |
S93W |
probably damaging |
Het |
Slc49a3 |
C |
T |
5: 108,593,487 (GRCm39) |
R117H |
probably damaging |
Het |
Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
Spag1 |
T |
C |
15: 36,227,287 (GRCm39) |
L648P |
probably damaging |
Het |
Tagap1 |
T |
C |
17: 7,224,102 (GRCm39) |
D198G |
probably benign |
Het |
Tedc2 |
T |
C |
17: 24,436,874 (GRCm39) |
E287G |
probably damaging |
Het |
Tjp1 |
C |
A |
7: 64,962,669 (GRCm39) |
R1089S |
probably damaging |
Het |
Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
Ttc38 |
T |
A |
15: 85,722,928 (GRCm39) |
D125E |
probably benign |
Het |
Uggt1 |
C |
T |
1: 36,231,495 (GRCm39) |
R490Q |
probably null |
Het |
Uroc1 |
T |
G |
6: 90,321,096 (GRCm39) |
L224R |
probably damaging |
Het |
Vmn1r228 |
A |
T |
17: 20,997,455 (GRCm39) |
I21N |
possibly damaging |
Het |
Vmn2r102 |
T |
G |
17: 19,896,949 (GRCm39) |
L99V |
probably damaging |
Het |
Vps13c |
C |
T |
9: 67,857,571 (GRCm39) |
S2601F |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,010,830 (GRCm39) |
L932P |
probably damaging |
Het |
|
Other mutations in Ptdss1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01825:Ptdss1
|
APN |
13 |
67,135,886 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02798:Ptdss1
|
APN |
13 |
67,124,824 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03114:Ptdss1
|
APN |
13 |
67,142,058 (GRCm39) |
nonsense |
probably null |
|
BB009:Ptdss1
|
UTSW |
13 |
67,114,496 (GRCm39) |
missense |
probably damaging |
1.00 |
BB019:Ptdss1
|
UTSW |
13 |
67,114,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R0344:Ptdss1
|
UTSW |
13 |
67,081,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R0591:Ptdss1
|
UTSW |
13 |
67,120,714 (GRCm39) |
splice site |
probably benign |
|
R0749:Ptdss1
|
UTSW |
13 |
67,135,914 (GRCm39) |
nonsense |
probably null |
|
R0759:Ptdss1
|
UTSW |
13 |
67,135,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R1140:Ptdss1
|
UTSW |
13 |
67,111,420 (GRCm39) |
missense |
probably benign |
0.00 |
R1500:Ptdss1
|
UTSW |
13 |
67,143,472 (GRCm39) |
missense |
probably benign |
0.04 |
R1676:Ptdss1
|
UTSW |
13 |
67,081,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R1761:Ptdss1
|
UTSW |
13 |
67,104,476 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2087:Ptdss1
|
UTSW |
13 |
67,124,881 (GRCm39) |
splice site |
probably benign |
|
R3962:Ptdss1
|
UTSW |
13 |
67,142,075 (GRCm39) |
missense |
probably benign |
0.00 |
R4662:Ptdss1
|
UTSW |
13 |
67,081,675 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4707:Ptdss1
|
UTSW |
13 |
67,143,482 (GRCm39) |
critical splice donor site |
probably null |
|
R4775:Ptdss1
|
UTSW |
13 |
67,135,922 (GRCm39) |
splice site |
probably null |
|
R4993:Ptdss1
|
UTSW |
13 |
67,093,352 (GRCm39) |
missense |
probably benign |
0.01 |
R5402:Ptdss1
|
UTSW |
13 |
67,081,663 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5463:Ptdss1
|
UTSW |
13 |
67,093,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R5643:Ptdss1
|
UTSW |
13 |
67,120,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R5644:Ptdss1
|
UTSW |
13 |
67,120,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R6043:Ptdss1
|
UTSW |
13 |
67,111,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R6145:Ptdss1
|
UTSW |
13 |
67,120,701 (GRCm39) |
critical splice donor site |
probably null |
|
R6726:Ptdss1
|
UTSW |
13 |
67,101,595 (GRCm39) |
nonsense |
probably null |
|
R7016:Ptdss1
|
UTSW |
13 |
67,120,685 (GRCm39) |
missense |
probably benign |
0.00 |
R7116:Ptdss1
|
UTSW |
13 |
67,093,391 (GRCm39) |
missense |
probably benign |
0.00 |
R7339:Ptdss1
|
UTSW |
13 |
67,111,426 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7836:Ptdss1
|
UTSW |
13 |
67,081,719 (GRCm39) |
missense |
probably benign |
|
R7932:Ptdss1
|
UTSW |
13 |
67,114,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R7939:Ptdss1
|
UTSW |
13 |
67,143,411 (GRCm39) |
missense |
probably benign |
|
R8015:Ptdss1
|
UTSW |
13 |
67,111,407 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8237:Ptdss1
|
UTSW |
13 |
67,124,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R8767:Ptdss1
|
UTSW |
13 |
67,101,608 (GRCm39) |
missense |
probably benign |
0.01 |
RF044:Ptdss1
|
UTSW |
13 |
67,093,412 (GRCm39) |
missense |
possibly damaging |
0.47 |
|