Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
A |
G |
2: 155,392,337 (GRCm39) |
N261S |
probably benign |
Het |
Adcy8 |
C |
A |
15: 64,609,243 (GRCm39) |
G859* |
probably null |
Het |
Agbl3 |
A |
T |
6: 34,780,529 (GRCm39) |
K496* |
probably null |
Het |
Antxrl |
A |
T |
14: 33,782,363 (GRCm39) |
D182V |
probably damaging |
Het |
Arid5b |
A |
G |
10: 67,933,496 (GRCm39) |
L559P |
possibly damaging |
Het |
Azi2 |
T |
A |
9: 117,876,663 (GRCm39) |
S60T |
probably damaging |
Het |
Bahcc1 |
T |
C |
11: 120,176,048 (GRCm39) |
Y1931H |
probably damaging |
Het |
Cnga1 |
T |
A |
5: 72,775,574 (GRCm39) |
E49V |
probably damaging |
Het |
Col3a1 |
A |
G |
1: 45,386,339 (GRCm39) |
N160D |
possibly damaging |
Het |
Crem |
C |
A |
18: 3,268,070 (GRCm39) |
R267L |
probably damaging |
Het |
Ddx52 |
T |
C |
11: 83,844,145 (GRCm39) |
|
probably null |
Het |
Ddx6 |
T |
C |
9: 44,534,926 (GRCm39) |
I127T |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,606,304 (GRCm39) |
Y2094N |
probably damaging |
Het |
Dst |
C |
A |
1: 34,202,216 (GRCm39) |
N181K |
probably damaging |
Het |
Dusp7 |
A |
G |
9: 106,246,483 (GRCm39) |
K163E |
possibly damaging |
Het |
Dynlt1a |
T |
A |
17: 6,362,014 (GRCm39) |
T55S |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,733,607 (GRCm39) |
N451S |
probably benign |
Het |
Faap100 |
C |
A |
11: 120,269,590 (GRCm39) |
|
probably null |
Het |
Fam53a |
T |
C |
5: 33,765,262 (GRCm39) |
N148S |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,174,626 (GRCm39) |
D2029G |
probably damaging |
Het |
Flcn |
A |
T |
11: 59,684,998 (GRCm39) |
N484K |
possibly damaging |
Het |
Gbp10 |
T |
A |
5: 105,383,950 (GRCm39) |
E17D |
probably benign |
Het |
Gm14226 |
T |
C |
2: 154,867,003 (GRCm39) |
V320A |
possibly damaging |
Het |
Gna13 |
T |
C |
11: 109,286,765 (GRCm39) |
I196T |
probably damaging |
Het |
Gorasp1 |
G |
T |
9: 119,757,061 (GRCm39) |
P374T |
possibly damaging |
Het |
Hc |
T |
C |
2: 34,881,236 (GRCm39) |
D1461G |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,573,317 (GRCm39) |
N2111D |
probably damaging |
Het |
Hs3st3b1 |
G |
A |
11: 63,812,424 (GRCm39) |
S97L |
probably benign |
Het |
Hsdl2 |
A |
G |
4: 59,612,696 (GRCm39) |
T296A |
probably damaging |
Het |
Impg2 |
A |
G |
16: 56,025,512 (GRCm39) |
D48G |
probably damaging |
Het |
Kbtbd12 |
A |
T |
6: 88,591,062 (GRCm39) |
N383K |
probably benign |
Het |
Kcnj12 |
T |
G |
11: 60,960,397 (GRCm39) |
F232V |
probably damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Homo |
Ldhb |
T |
C |
6: 142,436,191 (GRCm39) |
D326G |
probably benign |
Het |
Lrrc49 |
A |
G |
9: 60,505,432 (GRCm39) |
L607S |
probably damaging |
Het |
Ltn1 |
A |
G |
16: 87,217,074 (GRCm39) |
S388P |
probably damaging |
Het |
Mansc4 |
A |
G |
6: 146,976,645 (GRCm39) |
S324P |
probably benign |
Het |
Meltf |
G |
A |
16: 31,707,717 (GRCm39) |
W368* |
probably null |
Het |
Nacad |
A |
G |
11: 6,552,255 (GRCm39) |
L312P |
probably damaging |
Het |
Ndc1 |
G |
T |
4: 107,225,304 (GRCm39) |
G7W |
probably benign |
Het |
Nmral1 |
T |
A |
16: 4,532,296 (GRCm39) |
K172* |
probably null |
Het |
Nol9 |
G |
T |
4: 152,123,906 (GRCm39) |
R32L |
probably damaging |
Het |
Nsun5 |
A |
G |
5: 135,403,912 (GRCm39) |
Y296C |
probably damaging |
Het |
Or4k51 |
C |
T |
2: 111,585,329 (GRCm39) |
T245I |
probably benign |
Het |
Oscp1 |
A |
G |
4: 125,970,571 (GRCm39) |
D120G |
possibly damaging |
Het |
Parp14 |
C |
T |
16: 35,680,811 (GRCm39) |
C274Y |
probably benign |
Het |
Pced1b |
T |
A |
15: 97,282,679 (GRCm39) |
H239Q |
possibly damaging |
Het |
Pgap1 |
T |
C |
1: 54,521,048 (GRCm39) |
I865V |
probably benign |
Het |
Ppp6r3 |
T |
A |
19: 3,543,936 (GRCm39) |
S360C |
probably damaging |
Het |
Prb1a |
A |
G |
6: 132,184,467 (GRCm39) |
S389P |
unknown |
Het |
Prr16 |
T |
G |
18: 51,436,227 (GRCm39) |
S235R |
probably benign |
Het |
Rab11fip1 |
T |
C |
8: 27,646,527 (GRCm39) |
N183S |
probably benign |
Het |
Rcn1 |
A |
G |
2: 105,219,320 (GRCm39) |
|
probably null |
Het |
Rimkla |
C |
A |
4: 119,325,288 (GRCm39) |
A374S |
probably benign |
Het |
Skint8 |
A |
T |
4: 111,785,935 (GRCm39) |
D127V |
probably damaging |
Het |
Slc12a6 |
A |
G |
2: 112,182,796 (GRCm39) |
K724E |
probably damaging |
Het |
Slc13a3 |
T |
C |
2: 165,248,667 (GRCm39) |
N537S |
unknown |
Het |
Slc26a5 |
T |
C |
5: 22,025,348 (GRCm39) |
D457G |
possibly damaging |
Het |
Slx4ip |
T |
C |
2: 136,842,138 (GRCm39) |
V21A |
possibly damaging |
Het |
Stt3b |
A |
G |
9: 115,087,626 (GRCm39) |
Y291H |
probably damaging |
Het |
Syn3 |
G |
A |
10: 86,302,916 (GRCm39) |
P80S |
probably damaging |
Het |
Tasor2 |
G |
A |
13: 3,626,540 (GRCm39) |
Q455* |
probably null |
Het |
Tiam1 |
A |
T |
16: 89,655,485 (GRCm39) |
|
probably null |
Het |
Tjp1 |
T |
C |
7: 64,993,399 (GRCm39) |
D58G |
probably damaging |
Het |
Tmprss15 |
T |
A |
16: 78,800,266 (GRCm39) |
I621F |
probably damaging |
Het |
Tns1 |
C |
T |
1: 73,992,629 (GRCm39) |
S683N |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,773,436 (GRCm39) |
L2322P |
probably damaging |
Het |
Ugdh |
G |
T |
5: 65,574,402 (GRCm39) |
H409N |
probably damaging |
Het |
Vmn2r81 |
T |
A |
10: 79,129,560 (GRCm39) |
M817K |
probably benign |
Het |
Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
Zbtb34 |
A |
G |
2: 33,302,145 (GRCm39) |
V132A |
probably damaging |
Het |
Zfp119b |
A |
G |
17: 56,246,992 (GRCm39) |
C33R |
possibly damaging |
Het |
|
Other mutations in Abca4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00156:Abca4
|
APN |
3 |
121,856,353 (GRCm39) |
splice site |
probably null |
|
IGL00229:Abca4
|
APN |
3 |
121,964,603 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00858:Abca4
|
APN |
3 |
121,967,537 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01316:Abca4
|
APN |
3 |
121,935,404 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01357:Abca4
|
APN |
3 |
121,897,232 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01784:Abca4
|
APN |
3 |
121,932,154 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01903:Abca4
|
APN |
3 |
121,949,050 (GRCm39) |
splice site |
probably benign |
|
IGL02008:Abca4
|
APN |
3 |
121,969,750 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02113:Abca4
|
APN |
3 |
121,904,127 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02142:Abca4
|
APN |
3 |
121,963,575 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02200:Abca4
|
APN |
3 |
121,862,663 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02203:Abca4
|
APN |
3 |
121,973,457 (GRCm39) |
missense |
probably benign |
|
IGL02306:Abca4
|
APN |
3 |
121,952,044 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02307:Abca4
|
APN |
3 |
121,935,395 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02673:Abca4
|
APN |
3 |
121,897,150 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02864:Abca4
|
APN |
3 |
121,937,080 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02886:Abca4
|
APN |
3 |
121,921,863 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02934:Abca4
|
APN |
3 |
121,956,008 (GRCm39) |
nonsense |
probably null |
|
IGL02992:Abca4
|
APN |
3 |
121,921,935 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03083:Abca4
|
APN |
3 |
121,932,261 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03258:Abca4
|
APN |
3 |
121,931,210 (GRCm39) |
splice site |
probably benign |
|
IGL03279:Abca4
|
APN |
3 |
121,935,381 (GRCm39) |
missense |
probably benign |
0.12 |
3-1:Abca4
|
UTSW |
3 |
121,874,574 (GRCm39) |
missense |
probably benign |
0.01 |
B6819:Abca4
|
UTSW |
3 |
121,897,273 (GRCm39) |
splice site |
probably benign |
|
K7894:Abca4
|
UTSW |
3 |
121,941,517 (GRCm39) |
frame shift |
probably null |
|
PIT4151001:Abca4
|
UTSW |
3 |
121,930,670 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4453001:Abca4
|
UTSW |
3 |
121,898,965 (GRCm39) |
missense |
probably damaging |
0.99 |
R0001:Abca4
|
UTSW |
3 |
121,874,660 (GRCm39) |
splice site |
probably benign |
|
R0091:Abca4
|
UTSW |
3 |
121,932,179 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0138:Abca4
|
UTSW |
3 |
121,899,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R0344:Abca4
|
UTSW |
3 |
121,877,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R0347:Abca4
|
UTSW |
3 |
121,913,748 (GRCm39) |
missense |
probably benign |
0.00 |
R0508:Abca4
|
UTSW |
3 |
121,917,200 (GRCm39) |
splice site |
probably benign |
|
R0607:Abca4
|
UTSW |
3 |
121,950,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R0835:Abca4
|
UTSW |
3 |
121,919,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R0839:Abca4
|
UTSW |
3 |
121,920,527 (GRCm39) |
missense |
probably damaging |
0.99 |
R1138:Abca4
|
UTSW |
3 |
121,967,497 (GRCm39) |
missense |
probably benign |
0.13 |
R1448:Abca4
|
UTSW |
3 |
121,956,577 (GRCm39) |
splice site |
probably null |
|
R1453:Abca4
|
UTSW |
3 |
121,862,763 (GRCm39) |
missense |
probably benign |
0.04 |
R1533:Abca4
|
UTSW |
3 |
121,928,807 (GRCm39) |
missense |
probably benign |
0.07 |
R1645:Abca4
|
UTSW |
3 |
121,948,926 (GRCm39) |
missense |
probably benign |
0.00 |
R1763:Abca4
|
UTSW |
3 |
121,957,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R1763:Abca4
|
UTSW |
3 |
121,904,330 (GRCm39) |
missense |
probably benign |
0.09 |
R1838:Abca4
|
UTSW |
3 |
121,921,954 (GRCm39) |
missense |
probably benign |
|
R1867:Abca4
|
UTSW |
3 |
121,899,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R1907:Abca4
|
UTSW |
3 |
121,862,661 (GRCm39) |
missense |
probably damaging |
0.99 |
R1935:Abca4
|
UTSW |
3 |
121,846,572 (GRCm39) |
missense |
probably benign |
0.00 |
R1936:Abca4
|
UTSW |
3 |
121,846,572 (GRCm39) |
missense |
probably benign |
0.00 |
R2165:Abca4
|
UTSW |
3 |
121,906,048 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2391:Abca4
|
UTSW |
3 |
121,952,071 (GRCm39) |
missense |
probably benign |
0.00 |
R2403:Abca4
|
UTSW |
3 |
121,964,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R3788:Abca4
|
UTSW |
3 |
121,846,561 (GRCm39) |
missense |
possibly damaging |
0.50 |
R3814:Abca4
|
UTSW |
3 |
121,964,570 (GRCm39) |
splice site |
probably benign |
|
R4554:Abca4
|
UTSW |
3 |
121,949,992 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4649:Abca4
|
UTSW |
3 |
121,963,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R4653:Abca4
|
UTSW |
3 |
121,932,230 (GRCm39) |
nonsense |
probably null |
|
R4655:Abca4
|
UTSW |
3 |
121,941,147 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4668:Abca4
|
UTSW |
3 |
121,948,948 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4705:Abca4
|
UTSW |
3 |
121,899,019 (GRCm39) |
missense |
probably damaging |
0.98 |
R4788:Abca4
|
UTSW |
3 |
121,960,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R4795:Abca4
|
UTSW |
3 |
121,969,772 (GRCm39) |
missense |
probably damaging |
0.99 |
R4999:Abca4
|
UTSW |
3 |
121,899,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R5301:Abca4
|
UTSW |
3 |
121,896,502 (GRCm39) |
missense |
probably damaging |
0.96 |
R5372:Abca4
|
UTSW |
3 |
121,848,988 (GRCm39) |
missense |
probably damaging |
0.96 |
R5395:Abca4
|
UTSW |
3 |
121,874,590 (GRCm39) |
missense |
probably benign |
0.00 |
R5539:Abca4
|
UTSW |
3 |
121,963,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R5583:Abca4
|
UTSW |
3 |
121,942,550 (GRCm39) |
missense |
probably damaging |
0.99 |
R5706:Abca4
|
UTSW |
3 |
121,847,910 (GRCm39) |
missense |
probably benign |
0.10 |
R5719:Abca4
|
UTSW |
3 |
121,928,915 (GRCm39) |
critical splice donor site |
probably null |
|
R5731:Abca4
|
UTSW |
3 |
121,926,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R5802:Abca4
|
UTSW |
3 |
121,847,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R5819:Abca4
|
UTSW |
3 |
121,930,630 (GRCm39) |
missense |
probably damaging |
0.97 |
R5853:Abca4
|
UTSW |
3 |
121,897,180 (GRCm39) |
missense |
probably benign |
|
R6053:Abca4
|
UTSW |
3 |
121,964,666 (GRCm39) |
missense |
probably damaging |
0.99 |
R6135:Abca4
|
UTSW |
3 |
121,932,096 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6185:Abca4
|
UTSW |
3 |
121,919,789 (GRCm39) |
missense |
probably damaging |
0.97 |
R6227:Abca4
|
UTSW |
3 |
121,930,743 (GRCm39) |
nonsense |
probably null |
|
R6293:Abca4
|
UTSW |
3 |
121,935,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R6297:Abca4
|
UTSW |
3 |
121,926,179 (GRCm39) |
missense |
probably benign |
0.24 |
R6367:Abca4
|
UTSW |
3 |
121,897,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R6376:Abca4
|
UTSW |
3 |
121,917,309 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6405:Abca4
|
UTSW |
3 |
121,967,311 (GRCm39) |
splice site |
probably null |
|
R6602:Abca4
|
UTSW |
3 |
121,932,150 (GRCm39) |
missense |
probably benign |
0.00 |
R6681:Abca4
|
UTSW |
3 |
121,915,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R6747:Abca4
|
UTSW |
3 |
121,919,962 (GRCm39) |
splice site |
probably null |
|
R6852:Abca4
|
UTSW |
3 |
121,928,844 (GRCm39) |
missense |
probably damaging |
0.99 |
R7049:Abca4
|
UTSW |
3 |
121,941,497 (GRCm39) |
missense |
probably benign |
0.00 |
R7072:Abca4
|
UTSW |
3 |
121,967,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R7092:Abca4
|
UTSW |
3 |
121,932,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R7110:Abca4
|
UTSW |
3 |
121,926,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R7138:Abca4
|
UTSW |
3 |
121,899,113 (GRCm39) |
nonsense |
probably null |
|
R7172:Abca4
|
UTSW |
3 |
121,897,189 (GRCm39) |
nonsense |
probably null |
|
R7263:Abca4
|
UTSW |
3 |
121,847,843 (GRCm39) |
missense |
probably damaging |
0.99 |
R7414:Abca4
|
UTSW |
3 |
121,896,387 (GRCm39) |
missense |
probably benign |
0.28 |
R7537:Abca4
|
UTSW |
3 |
121,967,637 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7577:Abca4
|
UTSW |
3 |
121,967,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R7665:Abca4
|
UTSW |
3 |
121,838,139 (GRCm39) |
start gained |
probably benign |
|
R7758:Abca4
|
UTSW |
3 |
121,921,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R7935:Abca4
|
UTSW |
3 |
121,904,186 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8237:Abca4
|
UTSW |
3 |
121,955,952 (GRCm39) |
missense |
probably benign |
0.00 |
R8255:Abca4
|
UTSW |
3 |
121,948,926 (GRCm39) |
missense |
probably benign |
0.00 |
R8294:Abca4
|
UTSW |
3 |
121,897,217 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8504:Abca4
|
UTSW |
3 |
121,922,983 (GRCm39) |
missense |
probably benign |
0.01 |
R8536:Abca4
|
UTSW |
3 |
121,973,394 (GRCm39) |
missense |
probably benign |
0.01 |
R8714:Abca4
|
UTSW |
3 |
121,942,528 (GRCm39) |
missense |
probably benign |
0.19 |
R8771:Abca4
|
UTSW |
3 |
121,880,320 (GRCm39) |
missense |
probably damaging |
0.97 |
R8835:Abca4
|
UTSW |
3 |
121,896,433 (GRCm39) |
missense |
probably benign |
0.00 |
R8845:Abca4
|
UTSW |
3 |
121,930,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R8856:Abca4
|
UTSW |
3 |
121,906,096 (GRCm39) |
missense |
probably benign |
|
R8933:Abca4
|
UTSW |
3 |
121,921,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R9052:Abca4
|
UTSW |
3 |
121,940,908 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9095:Abca4
|
UTSW |
3 |
121,967,556 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9221:Abca4
|
UTSW |
3 |
121,921,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R9262:Abca4
|
UTSW |
3 |
121,964,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R9301:Abca4
|
UTSW |
3 |
121,881,128 (GRCm39) |
missense |
probably benign |
0.24 |
R9367:Abca4
|
UTSW |
3 |
121,838,197 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R9408:Abca4
|
UTSW |
3 |
121,931,274 (GRCm39) |
missense |
probably benign |
|
R9425:Abca4
|
UTSW |
3 |
121,926,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R9464:Abca4
|
UTSW |
3 |
121,913,714 (GRCm39) |
missense |
probably benign |
0.08 |
R9483:Abca4
|
UTSW |
3 |
121,879,275 (GRCm39) |
missense |
|
|
R9751:Abca4
|
UTSW |
3 |
121,881,126 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Abca4
|
UTSW |
3 |
121,950,092 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Abca4
|
UTSW |
3 |
121,897,137 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Abca4
|
UTSW |
3 |
121,967,563 (GRCm39) |
missense |
probably benign |
0.21 |
Z1177:Abca4
|
UTSW |
3 |
121,941,435 (GRCm39) |
missense |
possibly damaging |
0.79 |
Z1189:Abca4
|
UTSW |
3 |
121,877,642 (GRCm39) |
missense |
possibly damaging |
0.82 |
|