Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
C |
A |
19: 3,716,872 (GRCm38) |
T153K |
possibly damaging |
Het |
4932438A13Rik |
A |
G |
3: 36,964,968 (GRCm38) |
I2007V |
probably damaging |
Het |
Abca5 |
A |
C |
11: 110,279,316 (GRCm38) |
Y1318D |
probably benign |
Het |
Adam18 |
A |
G |
8: 24,674,101 (GRCm38) |
I22T |
probably benign |
Het |
Adgrv1 |
T |
A |
13: 81,560,844 (GRCm38) |
H1147L |
possibly damaging |
Het |
Ankrd2 |
T |
C |
19: 42,043,857 (GRCm38) |
|
probably null |
Het |
Bdkrb2 |
T |
C |
12: 105,591,658 (GRCm38) |
W53R |
probably benign |
Het |
Bmp3 |
T |
G |
5: 98,855,207 (GRCm38) |
L32R |
probably damaging |
Het |
Cdh23 |
T |
G |
10: 60,385,038 (GRCm38) |
E1312A |
probably damaging |
Het |
Ceacam5 |
C |
T |
7: 17,752,258 (GRCm38) |
T560M |
probably benign |
Het |
Cmtm8 |
C |
A |
9: 114,796,165 (GRCm38) |
R66I |
probably benign |
Het |
Cnbd1 |
A |
G |
4: 18,862,120 (GRCm38) |
Y357H |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,529,602 (GRCm38) |
V252E |
unknown |
Het |
Col6a4 |
A |
T |
9: 106,071,979 (GRCm38) |
M819K |
probably benign |
Het |
Cwf19l2 |
T |
C |
9: 3,430,783 (GRCm38) |
S372P |
probably benign |
Het |
Daam2 |
A |
T |
17: 49,490,145 (GRCm38) |
I204N |
possibly damaging |
Het |
Dock6 |
T |
C |
9: 21,844,280 (GRCm38) |
D216G |
probably damaging |
Het |
Epha5 |
C |
T |
5: 84,105,891 (GRCm38) |
D548N |
possibly damaging |
Het |
Erich2 |
T |
C |
2: 70,534,292 (GRCm38) |
Y311H |
possibly damaging |
Het |
Gm3985 |
A |
G |
8: 32,890,477 (GRCm38) |
|
noncoding transcript |
Het |
Gnb1 |
A |
G |
4: 155,543,067 (GRCm38) |
T102A |
possibly damaging |
Het |
Hcfc2 |
C |
T |
10: 82,709,146 (GRCm38) |
A204V |
probably null |
Het |
Hnrnpu |
T |
C |
1: 178,333,894 (GRCm38) |
|
probably benign |
Het |
Htt |
A |
G |
5: 34,852,225 (GRCm38) |
T1517A |
probably damaging |
Het |
Klhl6 |
T |
A |
16: 19,957,139 (GRCm38) |
D223V |
probably damaging |
Het |
Kpna6 |
A |
G |
4: 129,657,779 (GRCm38) |
S71P |
possibly damaging |
Het |
Lama3 |
A |
G |
18: 12,441,131 (GRCm38) |
D590G |
probably benign |
Het |
Lipt1 |
T |
G |
1: 37,875,529 (GRCm38) |
L222R |
probably damaging |
Het |
Lrrc41 |
A |
G |
4: 116,093,177 (GRCm38) |
|
probably benign |
Het |
Lrrc59 |
T |
C |
11: 94,634,672 (GRCm38) |
V98A |
probably benign |
Het |
Mast4 |
A |
G |
13: 102,774,184 (GRCm38) |
|
probably null |
Het |
Mdc1 |
C |
T |
17: 35,850,394 (GRCm38) |
S733F |
probably benign |
Het |
Mknk1 |
C |
T |
4: 115,878,186 (GRCm38) |
|
probably benign |
Het |
Mtmr7 |
A |
G |
8: 40,590,462 (GRCm38) |
F141S |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,887,602 (GRCm38) |
D1G |
possibly damaging |
Het |
Odf3 |
T |
C |
7: 140,848,278 (GRCm38) |
M1T |
probably null |
Het |
Olfr1356 |
T |
G |
10: 78,847,575 (GRCm38) |
L113F |
probably damaging |
Het |
Phkb |
T |
A |
8: 85,901,911 (GRCm38) |
V183E |
probably damaging |
Het |
Pola2 |
T |
C |
19: 5,953,864 (GRCm38) |
Y161C |
probably damaging |
Het |
Psen1 |
G |
A |
12: 83,731,778 (GRCm38) |
V412I |
probably benign |
Het |
Psmc4 |
C |
A |
7: 28,047,512 (GRCm38) |
G77V |
probably damaging |
Het |
Psmd3 |
A |
G |
11: 98,687,760 (GRCm38) |
Y207C |
probably damaging |
Het |
Pxk |
T |
A |
14: 8,130,653 (GRCm38) |
M84K |
probably damaging |
Het |
Rab44 |
A |
C |
17: 29,136,337 (GRCm38) |
Q19P |
probably damaging |
Het |
Rbks |
A |
G |
5: 31,624,515 (GRCm38) |
Y314H |
probably benign |
Het |
Rftn2 |
T |
C |
1: 55,214,240 (GRCm38) |
D68G |
possibly damaging |
Het |
Rims2 |
T |
A |
15: 39,535,914 (GRCm38) |
S838R |
probably damaging |
Het |
Sdc4 |
A |
T |
2: 164,431,218 (GRCm38) |
D57E |
probably damaging |
Het |
Slfn14 |
A |
G |
11: 83,279,156 (GRCm38) |
L554P |
probably damaging |
Het |
Spink2 |
G |
T |
5: 77,205,392 (GRCm38) |
D83E |
possibly damaging |
Het |
Srsf4 |
C |
T |
4: 131,900,102 (GRCm38) |
|
probably benign |
Het |
Taar8b |
A |
T |
10: 24,092,132 (GRCm38) |
S55T |
possibly damaging |
Het |
Tbca |
A |
G |
13: 94,832,410 (GRCm38) |
E35G |
probably benign |
Het |
Tmc5 |
C |
A |
7: 118,628,829 (GRCm38) |
H307Q |
probably benign |
Het |
Tmem169 |
A |
G |
1: 72,298,152 (GRCm38) |
D82G |
probably benign |
Het |
Tmem72 |
T |
C |
6: 116,698,358 (GRCm38) |
T58A |
probably benign |
Het |
Ttc7 |
C |
T |
17: 87,334,321 (GRCm38) |
P449S |
probably damaging |
Het |
Ttf2 |
T |
C |
3: 100,961,406 (GRCm38) |
E449G |
probably benign |
Het |
Ubr4 |
C |
A |
4: 139,402,546 (GRCm38) |
T659K |
probably damaging |
Het |
Wdr1 |
A |
G |
5: 38,547,029 (GRCm38) |
Y98H |
probably damaging |
Het |
Wfikkn2 |
A |
G |
11: 94,239,052 (GRCm38) |
Y88H |
probably benign |
Het |
Zfp384 |
A |
T |
6: 125,030,848 (GRCm38) |
H247L |
probably damaging |
Het |
Zfp526 |
C |
T |
7: 25,225,870 (GRCm38) |
A518V |
probably damaging |
Het |
Zfp788 |
T |
A |
7: 41,647,568 (GRCm38) |
H47Q |
probably benign |
Het |
|
Other mutations in Blm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01531:Blm
|
APN |
7 |
80,474,071 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01658:Blm
|
APN |
7 |
80,463,941 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL02048:Blm
|
APN |
7 |
80,502,961 (GRCm38) |
splice site |
probably benign |
|
IGL02060:Blm
|
APN |
7 |
80,514,580 (GRCm38) |
splice site |
probably benign |
|
IGL02063:Blm
|
APN |
7 |
80,509,419 (GRCm38) |
nonsense |
probably null |
|
IGL02102:Blm
|
APN |
7 |
80,469,756 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02420:Blm
|
APN |
7 |
80,496,006 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02452:Blm
|
APN |
7 |
80,503,377 (GRCm38) |
splice site |
probably null |
|
IGL02566:Blm
|
APN |
7 |
80,474,196 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03387:Blm
|
APN |
7 |
80,494,147 (GRCm38) |
missense |
probably damaging |
1.00 |
FR4304:Blm
|
UTSW |
7 |
80,512,919 (GRCm38) |
small insertion |
probably benign |
|
FR4304:Blm
|
UTSW |
7 |
80,463,773 (GRCm38) |
frame shift |
probably null |
|
FR4340:Blm
|
UTSW |
7 |
80,512,910 (GRCm38) |
small insertion |
probably benign |
|
FR4340:Blm
|
UTSW |
7 |
80,512,907 (GRCm38) |
small insertion |
probably benign |
|
FR4340:Blm
|
UTSW |
7 |
80,463,767 (GRCm38) |
unclassified |
probably benign |
|
FR4449:Blm
|
UTSW |
7 |
80,512,908 (GRCm38) |
small insertion |
probably benign |
|
FR4548:Blm
|
UTSW |
7 |
80,463,769 (GRCm38) |
frame shift |
probably null |
|
FR4589:Blm
|
UTSW |
7 |
80,463,770 (GRCm38) |
frame shift |
probably null |
|
FR4737:Blm
|
UTSW |
7 |
80,463,774 (GRCm38) |
frame shift |
probably null |
|
FR4737:Blm
|
UTSW |
7 |
80,463,771 (GRCm38) |
frame shift |
probably null |
|
FR4976:Blm
|
UTSW |
7 |
80,512,907 (GRCm38) |
small insertion |
probably benign |
|
FR4976:Blm
|
UTSW |
7 |
80,463,767 (GRCm38) |
unclassified |
probably benign |
|
R0133:Blm
|
UTSW |
7 |
80,502,367 (GRCm38) |
missense |
possibly damaging |
0.93 |
R0194:Blm
|
UTSW |
7 |
80,464,946 (GRCm38) |
unclassified |
probably benign |
|
R0526:Blm
|
UTSW |
7 |
80,505,893 (GRCm38) |
nonsense |
probably null |
|
R0673:Blm
|
UTSW |
7 |
80,499,751 (GRCm38) |
critical splice donor site |
probably null |
|
R0972:Blm
|
UTSW |
7 |
80,513,370 (GRCm38) |
missense |
probably benign |
|
R0980:Blm
|
UTSW |
7 |
80,499,958 (GRCm38) |
splice site |
probably null |
|
R1120:Blm
|
UTSW |
7 |
80,481,466 (GRCm38) |
missense |
probably damaging |
1.00 |
R1301:Blm
|
UTSW |
7 |
80,455,417 (GRCm38) |
nonsense |
probably null |
|
R1769:Blm
|
UTSW |
7 |
80,513,370 (GRCm38) |
missense |
probably benign |
|
R1866:Blm
|
UTSW |
7 |
80,494,114 (GRCm38) |
missense |
probably benign |
0.08 |
R1874:Blm
|
UTSW |
7 |
80,497,418 (GRCm38) |
missense |
probably damaging |
1.00 |
R1966:Blm
|
UTSW |
7 |
80,513,186 (GRCm38) |
missense |
possibly damaging |
0.86 |
R1991:Blm
|
UTSW |
7 |
80,505,949 (GRCm38) |
splice site |
probably null |
|
R2013:Blm
|
UTSW |
7 |
80,502,399 (GRCm38) |
missense |
probably damaging |
0.99 |
R2014:Blm
|
UTSW |
7 |
80,502,399 (GRCm38) |
missense |
probably damaging |
0.99 |
R2015:Blm
|
UTSW |
7 |
80,502,399 (GRCm38) |
missense |
probably damaging |
0.99 |
R2016:Blm
|
UTSW |
7 |
80,505,926 (GRCm38) |
missense |
probably benign |
0.26 |
R2103:Blm
|
UTSW |
7 |
80,505,949 (GRCm38) |
splice site |
probably null |
|
R2161:Blm
|
UTSW |
7 |
80,481,370 (GRCm38) |
splice site |
probably null |
|
R2215:Blm
|
UTSW |
7 |
80,499,847 (GRCm38) |
missense |
possibly damaging |
0.69 |
R3689:Blm
|
UTSW |
7 |
80,513,079 (GRCm38) |
missense |
possibly damaging |
0.56 |
R4049:Blm
|
UTSW |
7 |
80,502,862 (GRCm38) |
missense |
probably benign |
0.04 |
R4155:Blm
|
UTSW |
7 |
80,512,904 (GRCm38) |
small deletion |
probably benign |
|
R4695:Blm
|
UTSW |
7 |
80,494,228 (GRCm38) |
missense |
probably damaging |
1.00 |
R4774:Blm
|
UTSW |
7 |
80,463,848 (GRCm38) |
missense |
probably damaging |
1.00 |
R4835:Blm
|
UTSW |
7 |
80,509,546 (GRCm38) |
missense |
probably benign |
0.41 |
R4994:Blm
|
UTSW |
7 |
80,458,825 (GRCm38) |
missense |
probably benign |
0.00 |
R5039:Blm
|
UTSW |
7 |
80,505,873 (GRCm38) |
missense |
possibly damaging |
0.50 |
R5330:Blm
|
UTSW |
7 |
80,458,936 (GRCm38) |
missense |
possibly damaging |
0.73 |
R5375:Blm
|
UTSW |
7 |
80,513,229 (GRCm38) |
missense |
probably benign |
0.00 |
R5408:Blm
|
UTSW |
7 |
80,502,622 (GRCm38) |
missense |
probably benign |
0.01 |
R5574:Blm
|
UTSW |
7 |
80,499,773 (GRCm38) |
missense |
probably damaging |
1.00 |
R5606:Blm
|
UTSW |
7 |
80,460,832 (GRCm38) |
splice site |
probably null |
|
R5702:Blm
|
UTSW |
7 |
80,458,927 (GRCm38) |
missense |
probably benign |
0.13 |
R5809:Blm
|
UTSW |
7 |
80,464,844 (GRCm38) |
missense |
probably damaging |
1.00 |
R6114:Blm
|
UTSW |
7 |
80,513,487 (GRCm38) |
missense |
probably damaging |
1.00 |
R6157:Blm
|
UTSW |
7 |
80,512,985 (GRCm38) |
missense |
probably benign |
0.18 |
R6163:Blm
|
UTSW |
7 |
80,512,904 (GRCm38) |
small deletion |
probably benign |
|
R6254:Blm
|
UTSW |
7 |
80,480,342 (GRCm38) |
missense |
probably benign |
0.04 |
R6266:Blm
|
UTSW |
7 |
80,499,940 (GRCm38) |
missense |
probably benign |
0.03 |
R6364:Blm
|
UTSW |
7 |
80,494,526 (GRCm38) |
nonsense |
probably null |
|
R6446:Blm
|
UTSW |
7 |
80,512,904 (GRCm38) |
small deletion |
probably benign |
|
R6502:Blm
|
UTSW |
7 |
80,481,475 (GRCm38) |
missense |
probably damaging |
0.98 |
R6700:Blm
|
UTSW |
7 |
80,463,850 (GRCm38) |
missense |
possibly damaging |
0.91 |
R7002:Blm
|
UTSW |
7 |
80,469,753 (GRCm38) |
missense |
probably benign |
0.00 |
R7105:Blm
|
UTSW |
7 |
80,499,768 (GRCm38) |
missense |
probably benign |
0.44 |
R7320:Blm
|
UTSW |
7 |
80,455,354 (GRCm38) |
nonsense |
probably null |
|
R7465:Blm
|
UTSW |
7 |
80,513,115 (GRCm38) |
missense |
probably benign |
0.02 |
R7561:Blm
|
UTSW |
7 |
80,502,528 (GRCm38) |
missense |
probably damaging |
0.99 |
R8500:Blm
|
UTSW |
7 |
80,455,284 (GRCm38) |
missense |
probably damaging |
1.00 |
R8543:Blm
|
UTSW |
7 |
80,494,216 (GRCm38) |
missense |
probably damaging |
0.98 |
R8774-TAIL:Blm
|
UTSW |
7 |
80,512,907 (GRCm38) |
small insertion |
probably benign |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,512,918 (GRCm38) |
small insertion |
probably benign |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,512,919 (GRCm38) |
small insertion |
probably benign |
|
R8775-TAIL:Blm
|
UTSW |
7 |
80,512,931 (GRCm38) |
small insertion |
probably benign |
|
R8860:Blm
|
UTSW |
7 |
80,494,528 (GRCm38) |
missense |
probably benign |
0.30 |
R8928:Blm
|
UTSW |
7 |
80,512,904 (GRCm38) |
small deletion |
probably benign |
|
R9089:Blm
|
UTSW |
7 |
80,513,119 (GRCm38) |
missense |
probably damaging |
1.00 |
R9363:Blm
|
UTSW |
7 |
80,458,915 (GRCm38) |
missense |
probably damaging |
1.00 |
RF001:Blm
|
UTSW |
7 |
80,512,927 (GRCm38) |
small insertion |
probably benign |
|
RF001:Blm
|
UTSW |
7 |
80,512,906 (GRCm38) |
small insertion |
probably benign |
|
RF001:Blm
|
UTSW |
7 |
80,512,903 (GRCm38) |
small insertion |
probably benign |
|
RF002:Blm
|
UTSW |
7 |
80,512,927 (GRCm38) |
small insertion |
probably benign |
|
RF002:Blm
|
UTSW |
7 |
80,512,905 (GRCm38) |
small insertion |
probably benign |
|
RF007:Blm
|
UTSW |
7 |
80,512,933 (GRCm38) |
nonsense |
probably null |
|
RF016:Blm
|
UTSW |
7 |
80,512,926 (GRCm38) |
nonsense |
probably null |
|
RF018:Blm
|
UTSW |
7 |
80,512,926 (GRCm38) |
nonsense |
probably null |
|
RF027:Blm
|
UTSW |
7 |
80,512,914 (GRCm38) |
frame shift |
probably null |
|
RF028:Blm
|
UTSW |
7 |
80,512,905 (GRCm38) |
nonsense |
probably null |
|
RF031:Blm
|
UTSW |
7 |
80,512,923 (GRCm38) |
small insertion |
probably benign |
|
RF031:Blm
|
UTSW |
7 |
80,512,906 (GRCm38) |
small insertion |
probably benign |
|
RF032:Blm
|
UTSW |
7 |
80,512,930 (GRCm38) |
small insertion |
probably benign |
|
RF036:Blm
|
UTSW |
7 |
80,512,914 (GRCm38) |
nonsense |
probably null |
|
RF044:Blm
|
UTSW |
7 |
80,512,930 (GRCm38) |
small insertion |
probably benign |
|
RF053:Blm
|
UTSW |
7 |
80,512,921 (GRCm38) |
small insertion |
probably benign |
|
RF064:Blm
|
UTSW |
7 |
80,512,923 (GRCm38) |
nonsense |
probably null |
|
X0061:Blm
|
UTSW |
7 |
80,458,850 (GRCm38) |
missense |
possibly damaging |
0.89 |
|