Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
A |
12: 118,832,404 (GRCm39) |
E1190V |
probably damaging |
Het |
Arhgef10 |
A |
G |
8: 15,029,998 (GRCm39) |
T928A |
probably benign |
Het |
Arhgef10l |
T |
A |
4: 140,242,762 (GRCm39) |
I836F |
probably benign |
Het |
Ccdc63 |
T |
A |
5: 122,260,813 (GRCm39) |
Q237L |
probably damaging |
Het |
Ccn5 |
A |
G |
2: 163,670,904 (GRCm39) |
D137G |
probably damaging |
Het |
Cep57l1 |
G |
T |
10: 41,605,356 (GRCm39) |
R130S |
probably damaging |
Het |
Clstn2 |
T |
G |
9: 97,339,613 (GRCm39) |
E786A |
possibly damaging |
Het |
Col16a1 |
C |
T |
4: 129,962,545 (GRCm39) |
P540L |
probably damaging |
Het |
Csf2 |
A |
G |
11: 54,140,159 (GRCm39) |
F61L |
probably damaging |
Het |
Ctr9 |
C |
T |
7: 110,654,750 (GRCm39) |
R1094C |
unknown |
Het |
Cyp3a41a |
A |
G |
5: 145,650,350 (GRCm39) |
C98R |
probably damaging |
Het |
Dthd1 |
T |
A |
5: 62,984,508 (GRCm39) |
C404* |
probably null |
Het |
Egfem1 |
A |
C |
3: 29,740,880 (GRCm39) |
H518P |
probably benign |
Het |
Elf3 |
T |
C |
1: 135,182,015 (GRCm39) |
S369G |
probably benign |
Het |
Eml6 |
C |
T |
11: 29,788,577 (GRCm39) |
V503M |
probably damaging |
Het |
Enthd1 |
T |
C |
15: 80,444,240 (GRCm39) |
D105G |
probably damaging |
Het |
Eral1 |
A |
G |
11: 77,966,428 (GRCm39) |
L250P |
probably damaging |
Het |
Gdf15 |
A |
T |
8: 71,082,605 (GRCm39) |
M167K |
probably benign |
Het |
Ggps1 |
T |
C |
13: 14,228,284 (GRCm39) |
K300E |
probably benign |
Het |
Gm8074 |
G |
A |
9: 78,229,618 (GRCm39) |
|
noncoding transcript |
Het |
Herc3 |
A |
G |
6: 58,853,822 (GRCm39) |
I623V |
probably damaging |
Het |
Mad1l1 |
A |
G |
5: 140,118,571 (GRCm39) |
S457P |
probably damaging |
Het |
Map1lc3a |
G |
T |
2: 155,119,462 (GRCm39) |
V91F |
possibly damaging |
Het |
Map4k3 |
A |
G |
17: 80,913,394 (GRCm39) |
V617A |
probably benign |
Het |
Mov10l1 |
T |
A |
15: 88,879,235 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Ncor1 |
G |
T |
11: 62,220,494 (GRCm39) |
|
probably null |
Het |
Nfe2 |
C |
T |
15: 103,159,364 (GRCm39) |
E36K |
possibly damaging |
Het |
Oprm1 |
G |
A |
10: 6,779,087 (GRCm39) |
V95I |
probably benign |
Het |
Or4a78 |
T |
C |
2: 89,498,006 (GRCm39) |
I75V |
probably benign |
Het |
Or4c107 |
A |
G |
2: 88,789,617 (GRCm39) |
K269R |
probably benign |
Het |
Or52d3 |
T |
C |
7: 104,229,575 (GRCm39) |
F241L |
probably benign |
Het |
Or5d46 |
T |
C |
2: 88,174,144 (GRCm39) |
|
probably null |
Het |
Pcdha9 |
T |
A |
18: 37,130,995 (GRCm39) |
H21Q |
probably benign |
Het |
Pcolce2 |
A |
T |
9: 95,520,808 (GRCm39) |
I62F |
probably damaging |
Het |
Pfpl |
T |
A |
19: 12,407,053 (GRCm39) |
C435S |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,361,953 (GRCm39) |
C542Y |
probably damaging |
Het |
Plekha5 |
T |
C |
6: 140,529,597 (GRCm39) |
S75P |
probably damaging |
Het |
Pphln1 |
C |
A |
15: 93,362,987 (GRCm39) |
A202E |
probably damaging |
Het |
Ppp1r1a |
A |
G |
15: 103,440,881 (GRCm39) |
L92P |
probably damaging |
Het |
Prokr2 |
T |
C |
2: 132,223,414 (GRCm39) |
T43A |
probably benign |
Het |
Rai14 |
T |
C |
15: 10,592,298 (GRCm39) |
N199S |
probably benign |
Het |
Rasgrp2 |
T |
C |
19: 6,454,757 (GRCm39) |
L199P |
probably damaging |
Het |
Rnf213 |
A |
C |
11: 119,373,274 (GRCm39) |
M4939L |
possibly damaging |
Het |
Slc23a2 |
C |
T |
2: 131,902,603 (GRCm39) |
R533Q |
probably benign |
Het |
Slc7a7 |
T |
C |
14: 54,610,548 (GRCm39) |
|
probably null |
Het |
Snrpd2 |
T |
A |
7: 18,885,232 (GRCm39) |
V31E |
probably damaging |
Het |
Spire1 |
G |
T |
18: 67,662,101 (GRCm39) |
|
probably null |
Het |
Srsf4 |
T |
C |
4: 131,627,854 (GRCm39) |
|
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,737,630 (GRCm39) |
S1274P |
probably damaging |
Het |
Tcof1 |
C |
A |
18: 60,965,975 (GRCm39) |
A376S |
possibly damaging |
Het |
Thsd1 |
T |
A |
8: 22,733,180 (GRCm39) |
Y76N |
possibly damaging |
Het |
Timm44 |
A |
G |
8: 4,310,561 (GRCm39) |
V397A |
probably benign |
Het |
Tmc6 |
G |
A |
11: 117,669,087 (GRCm39) |
T89I |
possibly damaging |
Het |
Trbv31 |
C |
A |
6: 41,534,639 (GRCm39) |
C107F |
probably damaging |
Het |
Trim37 |
T |
A |
11: 87,031,429 (GRCm39) |
|
probably null |
Het |
Ttll5 |
T |
C |
12: 86,059,573 (GRCm39) |
V1226A |
probably benign |
Het |
Ube3b |
T |
C |
5: 114,550,931 (GRCm39) |
V865A |
probably benign |
Het |
Vmn2r86 |
A |
T |
10: 130,282,966 (GRCm39) |
M550K |
probably damaging |
Het |
Vps54 |
C |
A |
11: 21,250,183 (GRCm39) |
T373N |
probably benign |
Het |
Wdr64 |
T |
G |
1: 175,633,422 (GRCm39) |
I891S |
probably benign |
Het |
Zfhx4 |
C |
T |
3: 5,463,919 (GRCm39) |
S1384L |
probably damaging |
Het |
Zfp703 |
A |
G |
8: 27,469,113 (GRCm39) |
E259G |
possibly damaging |
Het |
Zfp933 |
T |
C |
4: 147,910,969 (GRCm39) |
H209R |
probably damaging |
Het |
Zfp980 |
A |
G |
4: 145,429,170 (GRCm39) |
H633R |
probably damaging |
Het |
|
Other mutations in Blm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01531:Blm
|
APN |
7 |
80,123,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01658:Blm
|
APN |
7 |
80,113,689 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02048:Blm
|
APN |
7 |
80,152,709 (GRCm39) |
splice site |
probably benign |
|
IGL02060:Blm
|
APN |
7 |
80,164,328 (GRCm39) |
splice site |
probably benign |
|
IGL02063:Blm
|
APN |
7 |
80,159,167 (GRCm39) |
nonsense |
probably null |
|
IGL02102:Blm
|
APN |
7 |
80,119,504 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02420:Blm
|
APN |
7 |
80,145,754 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02452:Blm
|
APN |
7 |
80,153,125 (GRCm39) |
splice site |
probably null |
|
IGL02566:Blm
|
APN |
7 |
80,123,944 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03387:Blm
|
APN |
7 |
80,143,895 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Blm
|
UTSW |
7 |
80,162,667 (GRCm39) |
small insertion |
probably benign |
|
FR4304:Blm
|
UTSW |
7 |
80,113,521 (GRCm39) |
frame shift |
probably null |
|
FR4340:Blm
|
UTSW |
7 |
80,162,658 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Blm
|
UTSW |
7 |
80,113,515 (GRCm39) |
unclassified |
probably benign |
|
FR4449:Blm
|
UTSW |
7 |
80,162,656 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Blm
|
UTSW |
7 |
80,113,517 (GRCm39) |
frame shift |
probably null |
|
FR4589:Blm
|
UTSW |
7 |
80,113,518 (GRCm39) |
frame shift |
probably null |
|
FR4737:Blm
|
UTSW |
7 |
80,113,522 (GRCm39) |
frame shift |
probably null |
|
FR4737:Blm
|
UTSW |
7 |
80,113,519 (GRCm39) |
frame shift |
probably null |
|
FR4976:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Blm
|
UTSW |
7 |
80,113,515 (GRCm39) |
unclassified |
probably benign |
|
R0133:Blm
|
UTSW |
7 |
80,152,115 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0194:Blm
|
UTSW |
7 |
80,114,694 (GRCm39) |
unclassified |
probably benign |
|
R0526:Blm
|
UTSW |
7 |
80,155,641 (GRCm39) |
nonsense |
probably null |
|
R0673:Blm
|
UTSW |
7 |
80,149,499 (GRCm39) |
critical splice donor site |
probably null |
|
R0972:Blm
|
UTSW |
7 |
80,163,118 (GRCm39) |
missense |
probably benign |
|
R0980:Blm
|
UTSW |
7 |
80,149,706 (GRCm39) |
splice site |
probably null |
|
R1120:Blm
|
UTSW |
7 |
80,131,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R1301:Blm
|
UTSW |
7 |
80,105,165 (GRCm39) |
nonsense |
probably null |
|
R1769:Blm
|
UTSW |
7 |
80,163,118 (GRCm39) |
missense |
probably benign |
|
R1866:Blm
|
UTSW |
7 |
80,143,862 (GRCm39) |
missense |
probably benign |
0.08 |
R1874:Blm
|
UTSW |
7 |
80,147,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R1966:Blm
|
UTSW |
7 |
80,162,934 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1991:Blm
|
UTSW |
7 |
80,155,697 (GRCm39) |
splice site |
probably null |
|
R2013:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2014:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2015:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2016:Blm
|
UTSW |
7 |
80,155,674 (GRCm39) |
missense |
probably benign |
0.26 |
R2103:Blm
|
UTSW |
7 |
80,155,697 (GRCm39) |
splice site |
probably null |
|
R2161:Blm
|
UTSW |
7 |
80,131,118 (GRCm39) |
splice site |
probably null |
|
R2215:Blm
|
UTSW |
7 |
80,149,595 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3689:Blm
|
UTSW |
7 |
80,162,827 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4155:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R4695:Blm
|
UTSW |
7 |
80,143,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R4774:Blm
|
UTSW |
7 |
80,113,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R4833:Blm
|
UTSW |
7 |
80,116,574 (GRCm39) |
missense |
probably benign |
|
R4835:Blm
|
UTSW |
7 |
80,159,294 (GRCm39) |
missense |
probably benign |
0.41 |
R4994:Blm
|
UTSW |
7 |
80,108,573 (GRCm39) |
missense |
probably benign |
0.00 |
R5039:Blm
|
UTSW |
7 |
80,155,621 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5330:Blm
|
UTSW |
7 |
80,108,684 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5375:Blm
|
UTSW |
7 |
80,162,977 (GRCm39) |
missense |
probably benign |
0.00 |
R5408:Blm
|
UTSW |
7 |
80,152,370 (GRCm39) |
missense |
probably benign |
0.01 |
R5574:Blm
|
UTSW |
7 |
80,149,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R5606:Blm
|
UTSW |
7 |
80,110,580 (GRCm39) |
splice site |
probably null |
|
R5702:Blm
|
UTSW |
7 |
80,108,675 (GRCm39) |
missense |
probably benign |
0.13 |
R5809:Blm
|
UTSW |
7 |
80,114,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R6114:Blm
|
UTSW |
7 |
80,163,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R6157:Blm
|
UTSW |
7 |
80,162,733 (GRCm39) |
missense |
probably benign |
0.18 |
R6163:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R6254:Blm
|
UTSW |
7 |
80,130,090 (GRCm39) |
missense |
probably benign |
0.04 |
R6266:Blm
|
UTSW |
7 |
80,149,688 (GRCm39) |
missense |
probably benign |
0.03 |
R6364:Blm
|
UTSW |
7 |
80,144,274 (GRCm39) |
nonsense |
probably null |
|
R6446:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R6502:Blm
|
UTSW |
7 |
80,131,223 (GRCm39) |
missense |
probably damaging |
0.98 |
R6700:Blm
|
UTSW |
7 |
80,113,598 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7002:Blm
|
UTSW |
7 |
80,119,501 (GRCm39) |
missense |
probably benign |
0.00 |
R7105:Blm
|
UTSW |
7 |
80,149,516 (GRCm39) |
missense |
probably benign |
0.44 |
R7320:Blm
|
UTSW |
7 |
80,105,102 (GRCm39) |
nonsense |
probably null |
|
R7465:Blm
|
UTSW |
7 |
80,162,863 (GRCm39) |
missense |
probably benign |
0.02 |
R7561:Blm
|
UTSW |
7 |
80,152,276 (GRCm39) |
missense |
probably damaging |
0.99 |
R8500:Blm
|
UTSW |
7 |
80,105,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R8543:Blm
|
UTSW |
7 |
80,143,964 (GRCm39) |
missense |
probably damaging |
0.98 |
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,666 (GRCm39) |
small insertion |
probably benign |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,667 (GRCm39) |
small insertion |
probably benign |
|
R8775-TAIL:Blm
|
UTSW |
7 |
80,162,679 (GRCm39) |
small insertion |
probably benign |
|
R8860:Blm
|
UTSW |
7 |
80,144,276 (GRCm39) |
missense |
probably benign |
0.30 |
R8928:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R9089:Blm
|
UTSW |
7 |
80,162,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R9363:Blm
|
UTSW |
7 |
80,108,663 (GRCm39) |
missense |
probably damaging |
1.00 |
RF001:Blm
|
UTSW |
7 |
80,162,675 (GRCm39) |
small insertion |
probably benign |
|
RF001:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
RF001:Blm
|
UTSW |
7 |
80,162,651 (GRCm39) |
small insertion |
probably benign |
|
RF002:Blm
|
UTSW |
7 |
80,162,675 (GRCm39) |
small insertion |
probably benign |
|
RF002:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
small insertion |
probably benign |
|
RF007:Blm
|
UTSW |
7 |
80,162,681 (GRCm39) |
nonsense |
probably null |
|
RF016:Blm
|
UTSW |
7 |
80,162,674 (GRCm39) |
nonsense |
probably null |
|
RF018:Blm
|
UTSW |
7 |
80,162,674 (GRCm39) |
nonsense |
probably null |
|
RF027:Blm
|
UTSW |
7 |
80,162,662 (GRCm39) |
frame shift |
probably null |
|
RF028:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
nonsense |
probably null |
|
RF031:Blm
|
UTSW |
7 |
80,162,671 (GRCm39) |
small insertion |
probably benign |
|
RF031:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
RF032:Blm
|
UTSW |
7 |
80,162,678 (GRCm39) |
small insertion |
probably benign |
|
RF036:Blm
|
UTSW |
7 |
80,162,662 (GRCm39) |
nonsense |
probably null |
|
RF044:Blm
|
UTSW |
7 |
80,162,678 (GRCm39) |
small insertion |
probably benign |
|
RF053:Blm
|
UTSW |
7 |
80,162,669 (GRCm39) |
small insertion |
probably benign |
|
RF064:Blm
|
UTSW |
7 |
80,162,671 (GRCm39) |
nonsense |
probably null |
|
X0061:Blm
|
UTSW |
7 |
80,108,598 (GRCm39) |
missense |
possibly damaging |
0.89 |
|