Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
C |
A |
8: 73,199,008 (GRCm39) |
Y138* |
probably null |
Het |
4933440M02Rik |
T |
C |
7: 124,930,714 (GRCm39) |
|
noncoding transcript |
Het |
Amy2b |
T |
C |
3: 113,058,634 (GRCm39) |
|
noncoding transcript |
Het |
Anxa1 |
T |
A |
19: 20,351,118 (GRCm39) |
D334V |
probably damaging |
Het |
Atoh8 |
T |
C |
6: 72,200,761 (GRCm39) |
T310A |
possibly damaging |
Het |
BC002059 |
G |
A |
17: 17,193,810 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc40 |
A |
G |
11: 119,144,447 (GRCm39) |
D924G |
possibly damaging |
Het |
Ccm2l |
A |
T |
2: 152,921,422 (GRCm39) |
M433L |
probably benign |
Het |
Cd209e |
T |
C |
8: 3,901,181 (GRCm39) |
S158G |
probably null |
Het |
Cdkn2a |
C |
T |
4: 89,194,955 (GRCm39) |
R153H |
unknown |
Het |
Cfap69 |
A |
G |
5: 5,696,934 (GRCm39) |
|
probably null |
Het |
Col6a5 |
T |
C |
9: 105,808,280 (GRCm39) |
T923A |
unknown |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Ddrgk1 |
A |
G |
2: 130,500,248 (GRCm39) |
F216S |
probably damaging |
Het |
Dysf |
T |
A |
6: 84,180,310 (GRCm39) |
C1995* |
probably null |
Het |
Extl1 |
G |
A |
4: 134,091,978 (GRCm39) |
L292F |
probably damaging |
Het |
Fsd1 |
A |
G |
17: 56,303,257 (GRCm39) |
N409D |
possibly damaging |
Het |
Gm15455 |
A |
T |
1: 33,876,803 (GRCm39) |
|
noncoding transcript |
Het |
Gm8894 |
A |
G |
14: 55,658,172 (GRCm39) |
|
noncoding transcript |
Het |
Gtf3c2 |
C |
T |
5: 31,314,921 (GRCm39) |
S942N |
probably benign |
Het |
Gvin-ps3 |
T |
C |
7: 105,681,041 (GRCm39) |
|
noncoding transcript |
Het |
H2-Ab1 |
A |
T |
17: 34,486,441 (GRCm39) |
T167S |
possibly damaging |
Het |
Ighv8-9 |
C |
T |
12: 115,432,134 (GRCm39) |
R59H |
probably damaging |
Het |
Igsf9b |
G |
A |
9: 27,228,752 (GRCm39) |
V171I |
probably benign |
Het |
Il31ra |
C |
T |
13: 112,664,079 (GRCm39) |
E533K |
possibly damaging |
Het |
Iqgap1 |
A |
C |
7: 80,385,261 (GRCm39) |
L1022R |
probably damaging |
Het |
Kcna4 |
T |
C |
2: 107,126,813 (GRCm39) |
F516L |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,668,081 (GRCm39) |
T47A |
possibly damaging |
Het |
L3mbtl2 |
A |
G |
15: 81,548,175 (GRCm39) |
|
probably benign |
Het |
Ldhb-ps |
C |
A |
19: 21,915,601 (GRCm39) |
|
noncoding transcript |
Het |
Lipo3 |
T |
A |
19: 33,757,749 (GRCm39) |
Q240L |
probably benign |
Het |
Lpar5 |
A |
G |
6: 125,059,461 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
A |
G |
15: 91,597,031 (GRCm39) |
D541G |
probably benign |
Het |
Med9 |
T |
A |
11: 59,839,266 (GRCm39) |
N58K |
probably benign |
Het |
Meig1 |
A |
G |
2: 3,410,251 (GRCm39) |
V83A |
possibly damaging |
Het |
Natd1 |
A |
C |
11: 60,797,822 (GRCm39) |
C34W |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,178,996 (GRCm39) |
C689S |
probably damaging |
Het |
Or4c104 |
T |
A |
2: 88,586,219 (GRCm39) |
K267* |
probably null |
Het |
Or52u1 |
T |
C |
7: 104,237,167 (GRCm39) |
M52T |
probably benign |
Het |
Or5d35 |
T |
C |
2: 87,855,204 (GRCm39) |
M46T |
possibly damaging |
Het |
Or6a2 |
G |
A |
7: 106,600,293 (GRCm39) |
A258V |
probably benign |
Het |
Pdgfrb |
A |
C |
18: 61,212,759 (GRCm39) |
S888R |
probably damaging |
Het |
Plppr4 |
T |
C |
3: 117,115,979 (GRCm39) |
E626G |
probably damaging |
Het |
Ppfia3 |
C |
A |
7: 44,990,050 (GRCm39) |
A1159S |
possibly damaging |
Het |
Pramel32 |
T |
A |
4: 88,547,450 (GRCm39) |
K74* |
probably null |
Het |
Prex1 |
A |
G |
2: 166,480,260 (GRCm39) |
V160A |
probably benign |
Het |
Psmb7 |
C |
T |
2: 38,478,283 (GRCm39) |
C247Y |
probably benign |
Het |
Rbm33 |
C |
T |
5: 28,547,435 (GRCm39) |
|
probably null |
Het |
Rfc5 |
T |
C |
5: 117,520,485 (GRCm39) |
T236A |
probably benign |
Het |
Sdk1 |
G |
T |
5: 141,568,168 (GRCm39) |
R122L |
probably benign |
Het |
Sh3bp1 |
T |
C |
15: 78,792,195 (GRCm39) |
S451P |
possibly damaging |
Het |
Smap1 |
G |
T |
1: 23,888,347 (GRCm39) |
|
probably benign |
Het |
Smc2 |
T |
A |
4: 52,462,927 (GRCm39) |
V639E |
probably damaging |
Het |
Synpo2l |
T |
A |
14: 20,711,765 (GRCm39) |
Q511L |
possibly damaging |
Het |
Taok2 |
G |
A |
7: 126,467,304 (GRCm39) |
S167L |
possibly damaging |
Het |
Tbc1d17 |
G |
A |
7: 44,492,488 (GRCm39) |
P392S |
probably benign |
Het |
Tef |
T |
A |
15: 81,707,758 (GRCm39) |
I261N |
probably damaging |
Het |
Tmbim1 |
T |
C |
1: 74,334,519 (GRCm39) |
N14D |
possibly damaging |
Het |
Tmprss11c |
T |
C |
5: 86,404,312 (GRCm39) |
K121R |
probably benign |
Het |
Trim36 |
C |
A |
18: 46,305,599 (GRCm39) |
M461I |
probably benign |
Het |
Trpc1 |
T |
A |
9: 95,603,468 (GRCm39) |
M355L |
probably benign |
Het |
Tspyl4 |
A |
C |
10: 34,173,760 (GRCm39) |
D84A |
probably benign |
Het |
Twf1 |
G |
T |
15: 94,482,315 (GRCm39) |
P144T |
probably damaging |
Het |
Ugt1a7c |
T |
C |
1: 88,023,392 (GRCm39) |
C184R |
probably damaging |
Het |
Unc79 |
C |
T |
12: 103,013,257 (GRCm39) |
P283S |
probably damaging |
Het |
Usp45 |
T |
C |
4: 21,796,860 (GRCm39) |
C49R |
probably benign |
Het |
Wdr11 |
T |
A |
7: 129,210,658 (GRCm39) |
|
probably benign |
Het |
Wdr27 |
A |
T |
17: 15,152,816 (GRCm39) |
M97K |
possibly damaging |
Het |
|
Other mutations in Epb41l5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01103:Epb41l5
|
APN |
1 |
119,495,577 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01983:Epb41l5
|
APN |
1 |
119,506,814 (GRCm39) |
splice site |
probably benign |
|
IGL02085:Epb41l5
|
APN |
1 |
119,500,586 (GRCm39) |
missense |
probably benign |
|
IGL02834:Epb41l5
|
APN |
1 |
119,551,685 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02975:Epb41l5
|
APN |
1 |
119,506,811 (GRCm39) |
splice site |
probably benign |
|
IGL03001:Epb41l5
|
APN |
1 |
119,545,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03331:Epb41l5
|
APN |
1 |
119,545,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R0096:Epb41l5
|
UTSW |
1 |
119,551,641 (GRCm39) |
splice site |
probably benign |
|
R0124:Epb41l5
|
UTSW |
1 |
119,561,370 (GRCm39) |
nonsense |
probably null |
|
R0128:Epb41l5
|
UTSW |
1 |
119,477,632 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0130:Epb41l5
|
UTSW |
1 |
119,477,632 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0241:Epb41l5
|
UTSW |
1 |
119,495,509 (GRCm39) |
splice site |
probably null |
|
R0357:Epb41l5
|
UTSW |
1 |
119,536,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R0624:Epb41l5
|
UTSW |
1 |
119,551,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R0711:Epb41l5
|
UTSW |
1 |
119,551,641 (GRCm39) |
splice site |
probably benign |
|
R0848:Epb41l5
|
UTSW |
1 |
119,477,684 (GRCm39) |
missense |
probably benign |
0.01 |
R1340:Epb41l5
|
UTSW |
1 |
119,476,861 (GRCm39) |
makesense |
probably null |
|
R1401:Epb41l5
|
UTSW |
1 |
119,506,634 (GRCm39) |
splice site |
probably benign |
|
R1416:Epb41l5
|
UTSW |
1 |
119,477,606 (GRCm39) |
splice site |
probably benign |
|
R1452:Epb41l5
|
UTSW |
1 |
119,476,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R1646:Epb41l5
|
UTSW |
1 |
119,477,752 (GRCm39) |
splice site |
probably benign |
|
R1889:Epb41l5
|
UTSW |
1 |
119,476,902 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1895:Epb41l5
|
UTSW |
1 |
119,476,902 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3082:Epb41l5
|
UTSW |
1 |
119,536,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R3742:Epb41l5
|
UTSW |
1 |
119,532,973 (GRCm39) |
missense |
probably benign |
|
R4194:Epb41l5
|
UTSW |
1 |
119,535,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R4983:Epb41l5
|
UTSW |
1 |
119,482,801 (GRCm39) |
missense |
probably benign |
0.00 |
R6825:Epb41l5
|
UTSW |
1 |
119,547,931 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6943:Epb41l5
|
UTSW |
1 |
119,536,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R6944:Epb41l5
|
UTSW |
1 |
119,536,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R7334:Epb41l5
|
UTSW |
1 |
119,551,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R8553:Epb41l5
|
UTSW |
1 |
119,477,671 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8904:Epb41l5
|
UTSW |
1 |
119,547,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R8955:Epb41l5
|
UTSW |
1 |
119,570,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R9147:Epb41l5
|
UTSW |
1 |
119,570,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R9258:Epb41l5
|
UTSW |
1 |
119,506,701 (GRCm39) |
missense |
probably benign |
|
R9351:Epb41l5
|
UTSW |
1 |
119,477,639 (GRCm39) |
missense |
probably benign |
0.01 |
R9366:Epb41l5
|
UTSW |
1 |
119,548,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R9370:Epb41l5
|
UTSW |
1 |
119,561,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R9680:Epb41l5
|
UTSW |
1 |
119,535,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R9779:Epb41l5
|
UTSW |
1 |
119,545,093 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Epb41l5
|
UTSW |
1 |
119,536,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|