Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdkl2 |
A |
G |
5: 92,181,585 (GRCm39) |
I132T |
probably damaging |
Het |
Ckap4 |
A |
T |
10: 84,364,469 (GRCm39) |
I198N |
probably damaging |
Het |
Col6a3 |
C |
T |
1: 90,737,898 (GRCm39) |
R600H |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,686,433 (GRCm39) |
I239T |
probably benign |
Het |
Ei24 |
A |
G |
9: 36,691,405 (GRCm39) |
*359R |
probably null |
Het |
Elk3 |
A |
T |
10: 93,090,683 (GRCm39) |
|
probably null |
Het |
Eps8l2 |
T |
A |
7: 140,922,875 (GRCm39) |
M46K |
probably damaging |
Het |
Frem2 |
G |
T |
3: 53,479,729 (GRCm39) |
T1988N |
probably benign |
Het |
Gm5431 |
T |
C |
11: 48,785,548 (GRCm39) |
K276E |
probably benign |
Het |
Gm8220 |
T |
A |
14: 44,525,729 (GRCm39) |
C133S |
possibly damaging |
Het |
Hectd2 |
T |
C |
19: 36,562,926 (GRCm39) |
L168P |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,217,228 (GRCm39) |
D1372V |
probably damaging |
Het |
Isl1 |
T |
C |
13: 116,441,985 (GRCm39) |
S83G |
probably benign |
Het |
Lrp1b |
A |
G |
2: 40,490,279 (GRCm39) |
I107T |
probably benign |
Het |
Mlc1 |
A |
T |
15: 88,858,934 (GRCm39) |
V117D |
possibly damaging |
Het |
Ndc1 |
A |
G |
4: 107,237,856 (GRCm39) |
E220G |
possibly damaging |
Het |
Nlrp4b |
T |
A |
7: 10,448,427 (GRCm39) |
M210K |
probably benign |
Het |
Or2z8 |
A |
T |
8: 72,811,920 (GRCm39) |
Y132F |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,691,423 (GRCm39) |
E60G |
possibly damaging |
Het |
Pld1 |
G |
A |
3: 28,142,814 (GRCm39) |
R674H |
probably benign |
Het |
Ppp1r13l |
G |
A |
7: 19,102,794 (GRCm39) |
|
probably benign |
Het |
Ppp2cb |
A |
T |
8: 34,100,679 (GRCm39) |
|
probably benign |
Het |
Rchy1 |
G |
T |
5: 92,110,502 (GRCm39) |
A26D |
probably benign |
Het |
Rrm1 |
T |
C |
7: 102,106,413 (GRCm39) |
F311L |
probably damaging |
Het |
Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
Slc24a4 |
T |
C |
12: 102,189,084 (GRCm39) |
L173P |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,640,826 (GRCm39) |
|
probably null |
Het |
Tube1 |
T |
A |
10: 39,010,977 (GRCm39) |
|
probably benign |
Het |
Utp20 |
C |
T |
10: 88,653,188 (GRCm39) |
|
probably null |
Het |
Vmn2r55 |
T |
C |
7: 12,405,120 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Abcc6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01589:Abcc6
|
APN |
7 |
45,652,096 (GRCm39) |
splice site |
probably benign |
|
IGL01731:Abcc6
|
APN |
7 |
45,652,034 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01743:Abcc6
|
APN |
7 |
45,646,238 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01757:Abcc6
|
APN |
7 |
45,639,705 (GRCm39) |
splice site |
probably benign |
|
IGL01895:Abcc6
|
APN |
7 |
45,678,482 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01942:Abcc6
|
APN |
7 |
45,635,997 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02251:Abcc6
|
APN |
7 |
45,626,840 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02277:Abcc6
|
APN |
7 |
45,650,485 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02548:Abcc6
|
APN |
7 |
45,654,686 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03063:Abcc6
|
APN |
7 |
45,665,856 (GRCm39) |
missense |
probably benign |
|
IGL03092:Abcc6
|
APN |
7 |
45,635,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R0057:Abcc6
|
UTSW |
7 |
45,669,567 (GRCm39) |
missense |
probably benign |
0.03 |
R0944:Abcc6
|
UTSW |
7 |
45,664,929 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1019:Abcc6
|
UTSW |
7 |
45,663,531 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1183:Abcc6
|
UTSW |
7 |
45,634,677 (GRCm39) |
missense |
probably damaging |
0.99 |
R1543:Abcc6
|
UTSW |
7 |
45,665,928 (GRCm39) |
missense |
probably benign |
0.01 |
R1550:Abcc6
|
UTSW |
7 |
45,654,668 (GRCm39) |
missense |
probably benign |
0.25 |
R1725:Abcc6
|
UTSW |
7 |
45,641,781 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1907:Abcc6
|
UTSW |
7 |
45,663,593 (GRCm39) |
missense |
probably benign |
0.04 |
R1908:Abcc6
|
UTSW |
7 |
45,669,558 (GRCm39) |
splice site |
probably null |
|
R1909:Abcc6
|
UTSW |
7 |
45,669,558 (GRCm39) |
splice site |
probably null |
|
R2138:Abcc6
|
UTSW |
7 |
45,630,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R2145:Abcc6
|
UTSW |
7 |
45,648,165 (GRCm39) |
missense |
probably benign |
0.01 |
R2402:Abcc6
|
UTSW |
7 |
45,664,999 (GRCm39) |
missense |
probably benign |
0.04 |
R3983:Abcc6
|
UTSW |
7 |
45,644,713 (GRCm39) |
missense |
probably benign |
|
R4013:Abcc6
|
UTSW |
7 |
45,668,104 (GRCm39) |
missense |
probably benign |
0.01 |
R4051:Abcc6
|
UTSW |
7 |
45,635,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R4052:Abcc6
|
UTSW |
7 |
45,635,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R4208:Abcc6
|
UTSW |
7 |
45,635,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R4362:Abcc6
|
UTSW |
7 |
45,648,256 (GRCm39) |
splice site |
probably benign |
|
R4385:Abcc6
|
UTSW |
7 |
45,644,752 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4399:Abcc6
|
UTSW |
7 |
45,652,031 (GRCm39) |
missense |
probably benign |
|
R4479:Abcc6
|
UTSW |
7 |
45,654,663 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4480:Abcc6
|
UTSW |
7 |
45,654,663 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4780:Abcc6
|
UTSW |
7 |
45,646,115 (GRCm39) |
missense |
probably benign |
|
R4791:Abcc6
|
UTSW |
7 |
45,631,584 (GRCm39) |
missense |
probably benign |
0.00 |
R4895:Abcc6
|
UTSW |
7 |
45,630,414 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4898:Abcc6
|
UTSW |
7 |
45,639,111 (GRCm39) |
missense |
probably damaging |
0.96 |
R4905:Abcc6
|
UTSW |
7 |
45,644,649 (GRCm39) |
missense |
probably benign |
|
R4941:Abcc6
|
UTSW |
7 |
45,661,947 (GRCm39) |
missense |
probably benign |
0.00 |
R5040:Abcc6
|
UTSW |
7 |
45,669,578 (GRCm39) |
missense |
probably benign |
0.04 |
R5128:Abcc6
|
UTSW |
7 |
45,639,070 (GRCm39) |
missense |
probably benign |
0.00 |
R5284:Abcc6
|
UTSW |
7 |
45,630,483 (GRCm39) |
missense |
probably benign |
0.05 |
R5328:Abcc6
|
UTSW |
7 |
45,641,735 (GRCm39) |
missense |
probably benign |
0.01 |
R5459:Abcc6
|
UTSW |
7 |
45,631,607 (GRCm39) |
missense |
probably benign |
0.00 |
R5543:Abcc6
|
UTSW |
7 |
45,638,960 (GRCm39) |
critical splice donor site |
probably null |
|
R6178:Abcc6
|
UTSW |
7 |
45,678,468 (GRCm39) |
missense |
probably benign |
|
R6228:Abcc6
|
UTSW |
7 |
45,679,680 (GRCm39) |
missense |
probably benign |
0.02 |
R6532:Abcc6
|
UTSW |
7 |
45,626,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R6605:Abcc6
|
UTSW |
7 |
45,630,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R7000:Abcc6
|
UTSW |
7 |
45,654,946 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7067:Abcc6
|
UTSW |
7 |
45,668,114 (GRCm39) |
missense |
probably benign |
|
R7553:Abcc6
|
UTSW |
7 |
45,648,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R7597:Abcc6
|
UTSW |
7 |
45,644,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R7718:Abcc6
|
UTSW |
7 |
45,626,816 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7781:Abcc6
|
UTSW |
7 |
45,655,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R7798:Abcc6
|
UTSW |
7 |
45,626,277 (GRCm39) |
nonsense |
probably null |
|
R7896:Abcc6
|
UTSW |
7 |
45,626,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R8098:Abcc6
|
UTSW |
7 |
45,646,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R8443:Abcc6
|
UTSW |
7 |
45,629,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R8773:Abcc6
|
UTSW |
7 |
45,634,569 (GRCm39) |
missense |
probably benign |
|
R8784:Abcc6
|
UTSW |
7 |
45,652,025 (GRCm39) |
missense |
probably benign |
|
R8802:Abcc6
|
UTSW |
7 |
45,658,283 (GRCm39) |
missense |
probably damaging |
0.99 |
R8807:Abcc6
|
UTSW |
7 |
45,648,431 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9006:Abcc6
|
UTSW |
7 |
45,665,820 (GRCm39) |
missense |
probably benign |
0.00 |
R9127:Abcc6
|
UTSW |
7 |
45,629,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R9475:Abcc6
|
UTSW |
7 |
45,665,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R9480:Abcc6
|
UTSW |
7 |
45,629,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R9535:Abcc6
|
UTSW |
7 |
45,626,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R9642:Abcc6
|
UTSW |
7 |
45,639,765 (GRCm39) |
missense |
probably benign |
0.07 |
R9715:Abcc6
|
UTSW |
7 |
45,629,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R9731:Abcc6
|
UTSW |
7 |
45,669,660 (GRCm39) |
nonsense |
probably null |
|
X0065:Abcc6
|
UTSW |
7 |
45,669,621 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Abcc6
|
UTSW |
7 |
45,641,730 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Abcc6
|
UTSW |
7 |
45,629,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|