Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
A |
12: 71,236,187 (GRCm39) |
M1179I |
probably benign |
Het |
6430550D23Rik |
T |
C |
2: 155,845,351 (GRCm39) |
T18A |
possibly damaging |
Het |
Acox2 |
T |
C |
14: 8,230,166 (GRCm38) |
N659S |
probably damaging |
Het |
Agk |
T |
C |
6: 40,353,212 (GRCm39) |
V192A |
possibly damaging |
Het |
Ap3b1 |
T |
A |
13: 94,664,666 (GRCm39) |
|
probably null |
Het |
Bche |
T |
A |
3: 73,608,454 (GRCm39) |
D324V |
probably damaging |
Het |
Bsn |
A |
G |
9: 107,991,939 (GRCm39) |
I1271T |
possibly damaging |
Het |
Capn12 |
T |
C |
7: 28,582,246 (GRCm39) |
L120P |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,399,296 (GRCm39) |
S2273T |
probably benign |
Het |
Ckap4 |
T |
C |
10: 84,364,331 (GRCm39) |
E244G |
probably damaging |
Het |
Clcn7 |
T |
C |
17: 25,375,796 (GRCm39) |
Y545H |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,234,780 (GRCm39) |
T103S |
possibly damaging |
Het |
Cplane1 |
A |
T |
15: 8,281,711 (GRCm39) |
E2850V |
unknown |
Het |
Cpne9 |
G |
A |
6: 113,261,406 (GRCm39) |
V121M |
possibly damaging |
Het |
Csmd2 |
T |
A |
4: 128,377,249 (GRCm39) |
I2043N |
|
Het |
Disc1 |
A |
G |
8: 125,814,243 (GRCm39) |
T36A |
probably benign |
Het |
Disp2 |
T |
C |
2: 118,621,391 (GRCm39) |
Y708H |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,670,793 (GRCm39) |
V635A |
probably benign |
Het |
Dnah3 |
A |
T |
7: 119,570,438 (GRCm39) |
|
probably null |
Het |
Dync1li1 |
A |
G |
9: 114,538,345 (GRCm39) |
H234R |
possibly damaging |
Het |
Egfr |
T |
C |
11: 16,839,966 (GRCm39) |
V660A |
possibly damaging |
Het |
Epb42 |
T |
C |
2: 120,858,200 (GRCm39) |
R253G |
possibly damaging |
Het |
Fat2 |
T |
A |
11: 55,202,247 (GRCm39) |
T276S |
probably benign |
Het |
Fcho2 |
A |
G |
13: 98,901,011 (GRCm39) |
|
probably null |
Het |
Ginm1 |
A |
T |
10: 7,655,119 (GRCm39) |
I41N |
probably damaging |
Het |
Gm4744 |
A |
G |
6: 40,927,367 (GRCm39) |
|
probably benign |
Het |
Gm49368 |
C |
T |
7: 127,711,398 (GRCm39) |
R701C |
probably damaging |
Het |
Gpr37 |
T |
A |
6: 25,688,207 (GRCm39) |
I297F |
probably benign |
Het |
Gprc5a |
T |
A |
6: 135,056,342 (GRCm39) |
I263N |
possibly damaging |
Het |
Gys2 |
A |
T |
6: 142,400,177 (GRCm39) |
S345T |
probably benign |
Het |
Hk2 |
T |
C |
6: 82,719,896 (GRCm39) |
M255V |
possibly damaging |
Het |
Ibtk |
A |
C |
9: 85,579,290 (GRCm39) |
S1202A |
possibly damaging |
Het |
Il23r |
T |
G |
6: 67,400,965 (GRCm39) |
D455A |
probably benign |
Het |
Irs2 |
T |
A |
8: 11,056,522 (GRCm39) |
K637* |
probably null |
Het |
Mei1 |
C |
T |
15: 81,966,824 (GRCm39) |
|
probably benign |
Het |
Mill1 |
T |
C |
7: 17,996,391 (GRCm39) |
M69T |
probably benign |
Het |
Mms22l |
T |
C |
4: 24,598,884 (GRCm39) |
|
probably null |
Het |
Mup8 |
C |
A |
4: 60,220,332 (GRCm39) |
Q133H |
probably benign |
Het |
Mup8 |
T |
A |
4: 60,220,333 (GRCm39) |
Q133L |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,429,055 (GRCm39) |
Y2374N |
probably damaging |
Het |
Nbeal1 |
A |
T |
1: 60,296,609 (GRCm39) |
K1166N |
probably damaging |
Het |
Nlrc4 |
T |
A |
17: 74,755,191 (GRCm39) |
R8S |
probably benign |
Het |
Nrcam |
C |
T |
12: 44,596,681 (GRCm39) |
Q25* |
probably null |
Het |
Nudt16 |
A |
C |
9: 105,008,760 (GRCm39) |
M47R |
probably damaging |
Het |
Nup62 |
T |
C |
7: 44,478,419 (GRCm39) |
S145P |
probably benign |
Het |
Or10d1 |
A |
G |
9: 39,483,761 (GRCm39) |
W265R |
probably benign |
Het |
Or4c117 |
T |
C |
2: 88,955,333 (GRCm39) |
I247M |
possibly damaging |
Het |
Osbpl1a |
A |
T |
18: 13,066,657 (GRCm39) |
V34D |
probably benign |
Het |
Otogl |
T |
A |
10: 107,712,782 (GRCm39) |
N521Y |
probably damaging |
Het |
Pcdhb14 |
T |
A |
18: 37,582,887 (GRCm39) |
D664E |
possibly damaging |
Het |
Pex5l |
T |
C |
3: 33,136,300 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,632,639 (GRCm39) |
L592P |
probably damaging |
Het |
Plxdc2 |
A |
G |
2: 16,734,187 (GRCm39) |
H480R |
probably benign |
Het |
Rnf216 |
T |
A |
5: 143,065,991 (GRCm39) |
K532N |
probably damaging |
Het |
Schip1 |
C |
A |
3: 68,525,028 (GRCm39) |
Q358K |
probably damaging |
Het |
Sdc2 |
A |
T |
15: 33,028,233 (GRCm39) |
E117V |
possibly damaging |
Het |
Septin11 |
A |
T |
5: 93,319,323 (GRCm39) |
|
probably null |
Het |
Shprh |
A |
T |
10: 11,037,924 (GRCm39) |
E420V |
probably benign |
Het |
Ska1 |
T |
A |
18: 74,330,044 (GRCm39) |
H232L |
probably benign |
Het |
Slc36a4 |
A |
G |
9: 15,630,956 (GRCm39) |
N25S |
possibly damaging |
Het |
Slitrk3 |
G |
A |
3: 72,958,172 (GRCm39) |
T200M |
probably damaging |
Het |
Smad2 |
C |
T |
18: 76,421,084 (GRCm39) |
H138Y |
probably benign |
Het |
Snx21 |
T |
C |
2: 164,628,085 (GRCm39) |
S34P |
probably damaging |
Het |
Sos2 |
A |
G |
12: 69,695,359 (GRCm39) |
V126A |
probably damaging |
Het |
Srcap |
C |
T |
7: 127,129,966 (GRCm39) |
T596I |
probably damaging |
Het |
Stk31 |
T |
G |
6: 49,383,877 (GRCm39) |
|
probably null |
Het |
Stox1 |
T |
C |
10: 62,499,743 (GRCm39) |
D939G |
probably damaging |
Het |
Syne2 |
G |
T |
12: 76,108,553 (GRCm39) |
C979F |
possibly damaging |
Het |
Tanc2 |
C |
A |
11: 105,667,684 (GRCm39) |
N88K |
possibly damaging |
Het |
Tll2 |
A |
T |
19: 41,084,447 (GRCm39) |
V677E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,748,834 (GRCm39) |
T4072A |
probably benign |
Het |
Unc13b |
CAGAGC |
CAGAGCGAGAGC |
4: 43,177,341 (GRCm39) |
|
probably benign |
Het |
Unc13b |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,312 (GRCm39) |
|
probably benign |
Het |
Unc13b |
AGAGCC |
AGAGCCCGAGCC |
4: 43,177,330 (GRCm39) |
|
probably benign |
Het |
Vmn2r43 |
A |
T |
7: 8,258,253 (GRCm39) |
F320Y |
possibly damaging |
Het |
Zscan4f |
G |
T |
7: 11,135,205 (GRCm39) |
G204* |
probably null |
Het |
|
Other mutations in Jak2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00839:Jak2
|
APN |
19 |
29,279,047 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00951:Jak2
|
APN |
19 |
29,276,983 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01300:Jak2
|
APN |
19 |
29,287,083 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01800:Jak2
|
APN |
19 |
29,263,693 (GRCm39) |
splice site |
probably benign |
|
IGL02035:Jak2
|
APN |
19 |
29,263,808 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02212:Jak2
|
APN |
19 |
29,265,382 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02447:Jak2
|
APN |
19 |
29,277,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R0001:Jak2
|
UTSW |
19 |
29,259,787 (GRCm39) |
missense |
probably benign |
0.01 |
R0158:Jak2
|
UTSW |
19 |
29,289,157 (GRCm39) |
missense |
probably benign |
|
R0217:Jak2
|
UTSW |
19 |
29,274,050 (GRCm39) |
critical splice donor site |
probably null |
|
R0308:Jak2
|
UTSW |
19 |
29,289,157 (GRCm39) |
missense |
probably benign |
0.15 |
R0344:Jak2
|
UTSW |
19 |
29,261,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R0398:Jak2
|
UTSW |
19 |
29,259,788 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0408:Jak2
|
UTSW |
19 |
29,263,717 (GRCm39) |
missense |
probably benign |
0.38 |
R0453:Jak2
|
UTSW |
19 |
29,289,238 (GRCm39) |
missense |
probably benign |
0.01 |
R0853:Jak2
|
UTSW |
19 |
29,262,326 (GRCm39) |
nonsense |
probably null |
|
R1180:Jak2
|
UTSW |
19 |
29,259,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R1794:Jak2
|
UTSW |
19 |
29,276,957 (GRCm39) |
missense |
probably benign |
0.00 |
R2247:Jak2
|
UTSW |
19 |
29,261,036 (GRCm39) |
missense |
probably benign |
0.01 |
R3908:Jak2
|
UTSW |
19 |
29,268,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R4705:Jak2
|
UTSW |
19 |
29,272,315 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4744:Jak2
|
UTSW |
19 |
29,239,656 (GRCm39) |
missense |
probably benign |
0.02 |
R4814:Jak2
|
UTSW |
19 |
29,279,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R4903:Jak2
|
UTSW |
19 |
29,252,436 (GRCm39) |
missense |
probably benign |
0.03 |
R5602:Jak2
|
UTSW |
19 |
29,275,739 (GRCm39) |
missense |
probably benign |
0.01 |
R5713:Jak2
|
UTSW |
19 |
29,248,793 (GRCm39) |
missense |
probably damaging |
0.96 |
R5740:Jak2
|
UTSW |
19 |
29,239,824 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5758:Jak2
|
UTSW |
19 |
29,287,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R5966:Jak2
|
UTSW |
19 |
29,260,954 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6285:Jak2
|
UTSW |
19 |
29,273,059 (GRCm39) |
missense |
probably benign |
0.35 |
R6439:Jak2
|
UTSW |
19 |
29,287,022 (GRCm39) |
splice site |
probably null |
|
R6624:Jak2
|
UTSW |
19 |
29,259,989 (GRCm39) |
missense |
probably damaging |
0.99 |
R6649:Jak2
|
UTSW |
19 |
29,266,110 (GRCm39) |
missense |
probably benign |
0.00 |
R6653:Jak2
|
UTSW |
19 |
29,266,110 (GRCm39) |
missense |
probably benign |
0.00 |
R7084:Jak2
|
UTSW |
19 |
29,263,798 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7180:Jak2
|
UTSW |
19 |
29,259,811 (GRCm39) |
missense |
probably benign |
0.01 |
R7261:Jak2
|
UTSW |
19 |
29,288,385 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7488:Jak2
|
UTSW |
19 |
29,275,783 (GRCm39) |
missense |
probably damaging |
0.99 |
R7537:Jak2
|
UTSW |
19 |
29,276,037 (GRCm39) |
missense |
probably benign |
0.00 |
R7777:Jak2
|
UTSW |
19 |
29,254,268 (GRCm39) |
missense |
probably benign |
0.32 |
R8050:Jak2
|
UTSW |
19 |
29,275,732 (GRCm39) |
missense |
probably damaging |
0.98 |
R8345:Jak2
|
UTSW |
19 |
29,262,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R8524:Jak2
|
UTSW |
19 |
29,273,105 (GRCm39) |
missense |
probably damaging |
0.99 |
R9003:Jak2
|
UTSW |
19 |
29,254,240 (GRCm39) |
missense |
probably benign |
|
R9128:Jak2
|
UTSW |
19 |
29,278,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R9188:Jak2
|
UTSW |
19 |
29,288,353 (GRCm39) |
missense |
probably damaging |
0.97 |
R9197:Jak2
|
UTSW |
19 |
29,289,157 (GRCm39) |
missense |
probably benign |
0.15 |
R9369:Jak2
|
UTSW |
19 |
29,266,203 (GRCm39) |
critical splice donor site |
probably null |
|
R9430:Jak2
|
UTSW |
19 |
29,265,367 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9704:Jak2
|
UTSW |
19 |
29,275,730 (GRCm39) |
nonsense |
probably null |
|
X0058:Jak2
|
UTSW |
19 |
29,273,111 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1176:Jak2
|
UTSW |
19 |
29,248,798 (GRCm39) |
missense |
possibly damaging |
0.58 |
|