Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
C |
A |
14: 68,809,252 (GRCm39) |
V237L |
probably benign |
Het |
Aff1 |
T |
C |
5: 103,990,163 (GRCm39) |
S878P |
probably damaging |
Het |
Ahcy |
A |
C |
2: 154,904,079 (GRCm39) |
L386R |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,804,700 (GRCm39) |
N607D |
probably damaging |
Het |
Arid5b |
T |
C |
10: 67,933,574 (GRCm39) |
D776G |
possibly damaging |
Het |
Art4 |
T |
A |
6: 136,834,211 (GRCm39) |
T11S |
unknown |
Het |
Cabin1 |
T |
A |
10: 75,583,805 (GRCm39) |
M221L |
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,573,101 (GRCm39) |
T1675A |
probably benign |
Het |
Cacnb2 |
A |
T |
2: 14,980,012 (GRCm39) |
H285L |
possibly damaging |
Het |
Cchcr1 |
A |
G |
17: 35,836,227 (GRCm39) |
E339G |
probably damaging |
Het |
Cd14 |
A |
G |
18: 36,859,006 (GRCm39) |
W150R |
probably damaging |
Het |
Cep162 |
A |
G |
9: 87,085,763 (GRCm39) |
I1187T |
probably benign |
Het |
Cntnap4 |
A |
G |
8: 113,568,385 (GRCm39) |
H807R |
probably damaging |
Het |
Copb1 |
T |
A |
7: 113,846,036 (GRCm39) |
H178L |
probably benign |
Het |
Cpxm2 |
A |
G |
7: 131,756,035 (GRCm39) |
V103A |
probably benign |
Het |
Egfr |
A |
G |
11: 16,854,374 (GRCm39) |
T849A |
possibly damaging |
Het |
Endou |
T |
A |
15: 97,611,757 (GRCm39) |
K294* |
probably null |
Het |
Hoxd9 |
A |
G |
2: 74,529,709 (GRCm39) |
N322D |
probably damaging |
Het |
Hsph1 |
C |
A |
5: 149,550,852 (GRCm39) |
V416L |
possibly damaging |
Het |
Igkv4-78 |
T |
A |
6: 69,036,743 (GRCm39) |
T97S |
possibly damaging |
Het |
Itga10 |
G |
T |
3: 96,556,351 (GRCm39) |
C162F |
probably damaging |
Het |
Lmod2 |
A |
G |
6: 24,603,691 (GRCm39) |
E222G |
probably damaging |
Het |
Lpar5 |
A |
G |
6: 125,058,639 (GRCm39) |
N120S |
probably damaging |
Het |
Lrrc37 |
T |
A |
11: 103,508,617 (GRCm39) |
|
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,632,029 (GRCm39) |
I1318V |
probably benign |
Het |
Lst1 |
T |
C |
17: 35,407,336 (GRCm39) |
T11A |
possibly damaging |
Het |
Mfn1 |
C |
A |
3: 32,617,985 (GRCm39) |
A106D |
probably damaging |
Het |
Ms4a12 |
G |
T |
19: 11,192,654 (GRCm39) |
N227K |
probably benign |
Het |
Nr1h4 |
T |
A |
10: 89,314,678 (GRCm39) |
N273Y |
possibly damaging |
Het |
Nrdc |
A |
T |
4: 108,901,782 (GRCm39) |
K617M |
probably damaging |
Het |
Or10a3b |
A |
T |
7: 108,444,593 (GRCm39) |
M208K |
possibly damaging |
Het |
Or1l8 |
A |
T |
2: 36,817,701 (GRCm39) |
C142S |
possibly damaging |
Het |
Or6c202 |
T |
A |
10: 128,996,202 (GRCm39) |
H217L |
probably benign |
Het |
Pcdhgc3 |
C |
G |
18: 37,940,925 (GRCm39) |
T442R |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,500,686 (GRCm39) |
N1468S |
probably damaging |
Het |
Pde2a |
A |
T |
7: 101,160,319 (GRCm39) |
|
probably null |
Het |
Pitx2 |
C |
G |
3: 128,998,062 (GRCm39) |
|
probably null |
Het |
Reck |
T |
A |
4: 43,922,895 (GRCm39) |
I390N |
probably damaging |
Het |
Rora |
A |
G |
9: 69,278,605 (GRCm39) |
N254S |
probably benign |
Het |
Samd4b |
A |
G |
7: 28,222,217 (GRCm39) |
|
probably null |
Het |
Scn8a |
A |
G |
15: 100,938,477 (GRCm39) |
T1949A |
probably damaging |
Het |
Slc22a15 |
A |
T |
3: 101,768,168 (GRCm39) |
Y346* |
probably null |
Het |
Slc24a5 |
A |
G |
2: 124,925,012 (GRCm39) |
T218A |
probably benign |
Het |
Slc38a10 |
G |
A |
11: 120,020,138 (GRCm39) |
Q305* |
probably null |
Het |
Slc45a4 |
G |
A |
15: 73,477,453 (GRCm39) |
P28S |
probably damaging |
Het |
Smyd5 |
A |
T |
6: 85,417,244 (GRCm39) |
|
probably benign |
Het |
Sox8 |
T |
C |
17: 25,786,494 (GRCm39) |
D403G |
probably damaging |
Het |
Stx7 |
A |
G |
10: 24,060,883 (GRCm39) |
|
probably null |
Het |
Svil |
T |
C |
18: 5,108,639 (GRCm39) |
S1522P |
probably damaging |
Het |
Sycp2 |
G |
C |
2: 177,990,038 (GRCm39) |
R1403G |
probably benign |
Het |
Tasor2 |
G |
A |
13: 3,640,081 (GRCm39) |
T352M |
probably damaging |
Het |
Tcf25 |
A |
T |
8: 124,111,114 (GRCm39) |
K192M |
probably damaging |
Het |
Tecpr1 |
C |
T |
5: 144,141,458 (GRCm39) |
G804S |
possibly damaging |
Het |
Teddm1a |
C |
G |
1: 153,767,614 (GRCm39) |
S26C |
probably damaging |
Het |
Usp13 |
C |
T |
3: 32,908,818 (GRCm39) |
P155S |
probably damaging |
Het |
Usp17lb |
T |
A |
7: 104,489,571 (GRCm39) |
D451V |
possibly damaging |
Het |
Vmn1r173 |
A |
G |
7: 23,402,254 (GRCm39) |
N163S |
possibly damaging |
Het |
Vmn2r103 |
G |
T |
17: 20,032,587 (GRCm39) |
C787F |
probably damaging |
Het |
Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
Het |
Zbtb40 |
T |
A |
4: 136,716,002 (GRCm39) |
I988F |
probably damaging |
Het |
Zbtb47 |
T |
A |
9: 121,594,661 (GRCm39) |
F540Y |
probably damaging |
Het |
Zfp536 |
A |
T |
7: 37,179,161 (GRCm39) |
I84N |
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 |
R4049:Blm
|
UTSW |
7 |
80,152,610 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
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 |
|