Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago2 |
A |
T |
15: 72,995,774 (GRCm39) |
D408E |
probably benign |
Het |
Agpat2 |
T |
C |
2: 26,486,147 (GRCm39) |
N178S |
probably benign |
Het |
Arsi |
T |
C |
18: 61,049,573 (GRCm39) |
F152S |
probably damaging |
Het |
Atp13a2 |
T |
A |
4: 140,734,367 (GRCm39) |
L1163Q |
probably benign |
Het |
Bpifb2 |
T |
A |
2: 153,733,072 (GRCm39) |
L385Q |
possibly damaging |
Het |
C330018D20Rik |
A |
G |
18: 57,095,579 (GRCm39) |
L2P |
probably damaging |
Het |
Cby3 |
A |
G |
11: 50,250,360 (GRCm39) |
T189A |
probably damaging |
Het |
Cdc42bpa |
A |
T |
1: 179,921,561 (GRCm39) |
D567V |
possibly damaging |
Het |
Cdh5 |
T |
A |
8: 104,853,168 (GRCm39) |
|
probably null |
Het |
Cela1 |
C |
T |
15: 100,585,071 (GRCm39) |
V20I |
probably benign |
Het |
Cmpk2 |
G |
A |
12: 26,519,415 (GRCm39) |
G22E |
possibly damaging |
Het |
Ctcf |
T |
A |
8: 106,390,423 (GRCm39) |
V10E |
possibly damaging |
Het |
Dpp10 |
C |
A |
1: 123,339,468 (GRCm39) |
C353F |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,999,620 (GRCm39) |
S5546G |
possibly damaging |
Het |
Elp3 |
G |
T |
14: 65,830,420 (GRCm39) |
Y10* |
probably null |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,755,646 (GRCm39) |
W336R |
probably damaging |
Het |
Erich6 |
T |
C |
3: 58,529,780 (GRCm39) |
|
probably null |
Het |
Eya1 |
T |
C |
1: 14,373,027 (GRCm39) |
N31D |
possibly damaging |
Het |
Fam81a |
T |
A |
9: 70,017,628 (GRCm39) |
N106Y |
probably damaging |
Het |
Frrs1 |
A |
G |
3: 116,694,639 (GRCm39) |
T487A |
possibly damaging |
Het |
Ganc |
T |
C |
2: 120,264,307 (GRCm39) |
M420T |
probably damaging |
Het |
Gimap7 |
A |
T |
6: 48,701,116 (GRCm39) |
E234V |
probably damaging |
Het |
Gpbp1 |
T |
C |
13: 111,570,146 (GRCm39) |
N400S |
probably damaging |
Het |
Gucy2g |
T |
C |
19: 55,229,377 (GRCm39) |
S98G |
probably benign |
Het |
Hoxd10 |
T |
C |
2: 74,524,678 (GRCm39) |
I330T |
possibly damaging |
Het |
Ik |
T |
A |
18: 36,890,341 (GRCm39) |
I539N |
probably damaging |
Het |
Il17rb |
G |
A |
14: 29,722,320 (GRCm39) |
T237I |
probably damaging |
Het |
Ing2 |
T |
A |
8: 48,122,293 (GRCm39) |
Q85L |
probably benign |
Het |
Lrp4 |
C |
A |
2: 91,324,174 (GRCm39) |
N1208K |
probably benign |
Het |
Lvrn |
T |
A |
18: 47,028,024 (GRCm39) |
S888R |
probably benign |
Het |
Map2 |
T |
C |
1: 66,454,488 (GRCm39) |
V1126A |
probably damaging |
Het |
Mapkapk5 |
A |
G |
5: 121,677,233 (GRCm39) |
|
probably null |
Het |
Mis18bp1 |
T |
C |
12: 65,196,021 (GRCm39) |
D581G |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,599,320 (GRCm39) |
V3289A |
probably benign |
Het |
Myom2 |
T |
A |
8: 15,149,356 (GRCm39) |
I609N |
probably benign |
Het |
Nav1 |
A |
T |
1: 135,382,433 (GRCm39) |
M1343K |
probably damaging |
Het |
Ndufaf1 |
T |
C |
2: 119,486,207 (GRCm39) |
I302V |
probably damaging |
Het |
Neb |
T |
A |
2: 52,183,733 (GRCm39) |
K978N |
probably damaging |
Het |
Nol8 |
A |
G |
13: 49,820,831 (GRCm39) |
E878G |
probably damaging |
Het |
Nrde2 |
A |
T |
12: 100,097,016 (GRCm39) |
I928N |
probably damaging |
Het |
Nxf1 |
T |
A |
19: 8,741,910 (GRCm39) |
D145E |
probably benign |
Het |
Obox3 |
T |
A |
7: 15,360,027 (GRCm39) |
H214L |
probably benign |
Het |
Obscn |
T |
C |
11: 58,964,572 (GRCm39) |
E3199G |
probably damaging |
Het |
Ogfod3 |
T |
C |
11: 121,093,761 (GRCm39) |
E83G |
probably benign |
Het |
Or11a4 |
T |
A |
17: 37,536,688 (GRCm39) |
V224E |
probably benign |
Het |
Or2r3 |
T |
G |
6: 42,448,687 (GRCm39) |
M142L |
probably benign |
Het |
Or6b2 |
A |
G |
1: 92,408,178 (GRCm39) |
L55P |
probably damaging |
Het |
Or8s8 |
T |
C |
15: 98,354,425 (GRCm39) |
V78A |
probably benign |
Het |
Pcsk4 |
G |
T |
10: 80,164,809 (GRCm39) |
H69N |
probably benign |
Het |
Plcl2 |
C |
T |
17: 50,975,188 (GRCm39) |
|
probably null |
Het |
Prss23 |
A |
T |
7: 89,159,241 (GRCm39) |
I276N |
probably damaging |
Het |
Ramac |
A |
G |
7: 81,417,387 (GRCm39) |
Y29C |
probably damaging |
Het |
Rhd |
T |
A |
4: 134,621,696 (GRCm39) |
F403Y |
possibly damaging |
Het |
Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Scg5 |
A |
G |
2: 113,657,737 (GRCm39) |
V58A |
possibly damaging |
Het |
Scn5a |
C |
T |
9: 119,315,102 (GRCm39) |
G1868R |
probably damaging |
Het |
Secisbp2l |
A |
G |
2: 125,610,245 (GRCm39) |
S225P |
possibly damaging |
Het |
Sema4f |
A |
T |
6: 82,894,613 (GRCm39) |
L486* |
probably null |
Het |
Slc25a47 |
G |
A |
12: 108,822,069 (GRCm39) |
R286H |
probably damaging |
Het |
Slc5a8 |
A |
C |
10: 88,740,916 (GRCm39) |
K277T |
probably damaging |
Het |
Slc66a3 |
T |
C |
12: 17,047,644 (GRCm39) |
Y96C |
probably damaging |
Het |
Sorcs1 |
T |
A |
19: 50,213,615 (GRCm39) |
E704V |
possibly damaging |
Het |
Sptan1 |
T |
C |
2: 29,908,527 (GRCm39) |
S1768P |
probably damaging |
Het |
Srd5a2 |
C |
T |
17: 74,328,378 (GRCm39) |
|
probably null |
Het |
Sytl2 |
A |
T |
7: 90,007,432 (GRCm39) |
K65* |
probably null |
Het |
Tas2r109 |
T |
G |
6: 132,957,844 (GRCm39) |
I29L |
probably benign |
Het |
Tfap2a |
A |
T |
13: 40,876,717 (GRCm39) |
V234E |
possibly damaging |
Het |
Tgfbr3 |
G |
A |
5: 107,325,679 (GRCm39) |
L128F |
probably benign |
Het |
Trappc12 |
A |
T |
12: 28,797,082 (GRCm39) |
L150Q |
probably damaging |
Het |
Trim43b |
T |
A |
9: 88,967,452 (GRCm39) |
I395L |
probably benign |
Het |
U2surp |
C |
T |
9: 95,373,474 (GRCm39) |
E232K |
probably benign |
Het |
Vax1 |
T |
C |
19: 59,154,656 (GRCm39) |
N327S |
probably benign |
Het |
Vmn1r14 |
T |
C |
6: 57,210,587 (GRCm39) |
V11A |
probably benign |
Het |
Vmn1r60 |
A |
G |
7: 5,547,782 (GRCm39) |
V106A |
probably damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,498,667 (GRCm39) |
S415G |
probably benign |
Het |
Vmn2r3 |
C |
T |
3: 64,182,517 (GRCm39) |
G394D |
probably damaging |
Het |
Ybx2 |
A |
G |
11: 69,831,179 (GRCm39) |
E63G |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,308,410 (GRCm39) |
N545K |
probably benign |
Het |
Zp1 |
T |
C |
19: 10,892,217 (GRCm39) |
T56A |
probably benign |
Het |
|
Other mutations in Pmfbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01021:Pmfbp1
|
APN |
8 |
110,264,625 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL01505:Pmfbp1
|
APN |
8 |
110,240,543 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01609:Pmfbp1
|
APN |
8 |
110,254,348 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02066:Pmfbp1
|
APN |
8 |
110,268,365 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02926:Pmfbp1
|
APN |
8 |
110,246,881 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03374:Pmfbp1
|
APN |
8 |
110,269,046 (GRCm39) |
utr 3 prime |
probably benign |
|
R0022:Pmfbp1
|
UTSW |
8 |
110,252,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R0022:Pmfbp1
|
UTSW |
8 |
110,252,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R0046:Pmfbp1
|
UTSW |
8 |
110,262,617 (GRCm39) |
splice site |
probably benign |
|
R0068:Pmfbp1
|
UTSW |
8 |
110,269,011 (GRCm39) |
splice site |
probably benign |
|
R0211:Pmfbp1
|
UTSW |
8 |
110,268,372 (GRCm39) |
missense |
probably benign |
0.03 |
R0244:Pmfbp1
|
UTSW |
8 |
110,268,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R0468:Pmfbp1
|
UTSW |
8 |
110,240,600 (GRCm39) |
splice site |
probably null |
|
R0479:Pmfbp1
|
UTSW |
8 |
110,257,105 (GRCm39) |
splice site |
probably benign |
|
R1124:Pmfbp1
|
UTSW |
8 |
110,257,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1332:Pmfbp1
|
UTSW |
8 |
110,256,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R1336:Pmfbp1
|
UTSW |
8 |
110,256,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R1621:Pmfbp1
|
UTSW |
8 |
110,226,170 (GRCm39) |
missense |
probably benign |
0.04 |
R1961:Pmfbp1
|
UTSW |
8 |
110,256,776 (GRCm39) |
splice site |
probably benign |
|
R2069:Pmfbp1
|
UTSW |
8 |
110,258,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2125:Pmfbp1
|
UTSW |
8 |
110,246,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R2889:Pmfbp1
|
UTSW |
8 |
110,252,063 (GRCm39) |
missense |
probably damaging |
0.99 |
R3034:Pmfbp1
|
UTSW |
8 |
110,247,553 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3956:Pmfbp1
|
UTSW |
8 |
110,256,801 (GRCm39) |
missense |
probably benign |
0.25 |
R4085:Pmfbp1
|
UTSW |
8 |
110,221,579 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4191:Pmfbp1
|
UTSW |
8 |
110,254,260 (GRCm39) |
missense |
probably benign |
0.00 |
R4410:Pmfbp1
|
UTSW |
8 |
110,258,695 (GRCm39) |
missense |
probably benign |
0.07 |
R4418:Pmfbp1
|
UTSW |
8 |
110,257,265 (GRCm39) |
missense |
probably benign |
0.36 |
R4888:Pmfbp1
|
UTSW |
8 |
110,258,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R4937:Pmfbp1
|
UTSW |
8 |
110,262,498 (GRCm39) |
missense |
probably benign |
|
R5070:Pmfbp1
|
UTSW |
8 |
110,256,787 (GRCm39) |
missense |
probably damaging |
0.99 |
R5184:Pmfbp1
|
UTSW |
8 |
110,254,399 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5552:Pmfbp1
|
UTSW |
8 |
110,258,383 (GRCm39) |
missense |
probably damaging |
0.98 |
R5609:Pmfbp1
|
UTSW |
8 |
110,251,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R5760:Pmfbp1
|
UTSW |
8 |
110,247,655 (GRCm39) |
missense |
probably damaging |
0.99 |
R5818:Pmfbp1
|
UTSW |
8 |
110,265,311 (GRCm39) |
splice site |
probably null |
|
R6496:Pmfbp1
|
UTSW |
8 |
110,258,789 (GRCm39) |
missense |
probably null |
0.04 |
R6550:Pmfbp1
|
UTSW |
8 |
110,246,839 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6565:Pmfbp1
|
UTSW |
8 |
110,252,060 (GRCm39) |
nonsense |
probably null |
|
R6624:Pmfbp1
|
UTSW |
8 |
110,256,822 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6684:Pmfbp1
|
UTSW |
8 |
110,262,462 (GRCm39) |
missense |
probably benign |
0.10 |
R6823:Pmfbp1
|
UTSW |
8 |
110,256,939 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6833:Pmfbp1
|
UTSW |
8 |
110,265,307 (GRCm39) |
critical splice donor site |
probably null |
|
R6940:Pmfbp1
|
UTSW |
8 |
110,251,823 (GRCm39) |
missense |
probably damaging |
0.98 |
R7000:Pmfbp1
|
UTSW |
8 |
110,257,221 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7411:Pmfbp1
|
UTSW |
8 |
110,240,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R7563:Pmfbp1
|
UTSW |
8 |
110,252,006 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7782:Pmfbp1
|
UTSW |
8 |
110,254,412 (GRCm39) |
missense |
probably damaging |
0.96 |
R8115:Pmfbp1
|
UTSW |
8 |
110,263,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R8712:Pmfbp1
|
UTSW |
8 |
110,265,309 (GRCm39) |
splice site |
probably benign |
|
R8954:Pmfbp1
|
UTSW |
8 |
110,258,433 (GRCm39) |
missense |
probably benign |
0.00 |
R9054:Pmfbp1
|
UTSW |
8 |
110,247,661 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9067:Pmfbp1
|
UTSW |
8 |
110,263,244 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9211:Pmfbp1
|
UTSW |
8 |
110,262,445 (GRCm39) |
missense |
probably benign |
0.04 |
R9237:Pmfbp1
|
UTSW |
8 |
110,246,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R9275:Pmfbp1
|
UTSW |
8 |
110,262,471 (GRCm39) |
missense |
probably benign |
0.03 |
R9293:Pmfbp1
|
UTSW |
8 |
110,263,205 (GRCm39) |
missense |
probably benign |
0.38 |
R9302:Pmfbp1
|
UTSW |
8 |
110,268,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R9539:Pmfbp1
|
UTSW |
8 |
110,240,537 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Pmfbp1
|
UTSW |
8 |
110,262,499 (GRCm39) |
missense |
probably benign |
0.25 |
Z1088:Pmfbp1
|
UTSW |
8 |
110,240,576 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pmfbp1
|
UTSW |
8 |
110,258,383 (GRCm39) |
missense |
probably damaging |
0.98 |
|