Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
C |
T |
19: 43,810,189 (GRCm39) |
|
probably benign |
Het |
Abcf1 |
T |
C |
17: 36,272,954 (GRCm39) |
E231G |
probably benign |
Het |
Astn2 |
T |
C |
4: 65,977,390 (GRCm39) |
Y379C |
probably damaging |
Het |
Atp8b1 |
G |
T |
18: 64,671,766 (GRCm39) |
|
probably benign |
Het |
Atr |
T |
A |
9: 95,763,473 (GRCm39) |
|
probably benign |
Het |
Bdp1 |
A |
G |
13: 100,160,335 (GRCm39) |
S2349P |
possibly damaging |
Het |
Bmp2 |
T |
C |
2: 133,402,886 (GRCm39) |
S146P |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,692,885 (GRCm39) |
S218G |
probably null |
Het |
Cand2 |
T |
C |
6: 115,780,599 (GRCm39) |
V1161A |
probably damaging |
Het |
Clec16a |
T |
C |
16: 10,398,824 (GRCm39) |
V330A |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,487,291 (GRCm39) |
V161D |
probably damaging |
Het |
Ctsh |
A |
G |
9: 89,943,600 (GRCm39) |
Y75C |
probably damaging |
Het |
Cyp26c1 |
C |
A |
19: 37,677,371 (GRCm39) |
L267M |
probably damaging |
Het |
Cyp26c1 |
T |
A |
19: 37,677,372 (GRCm39) |
L267Q |
probably damaging |
Het |
Cyp2c50 |
G |
A |
19: 40,079,543 (GRCm39) |
W212* |
probably null |
Het |
Dnah5 |
T |
A |
15: 28,343,698 (GRCm39) |
M2366K |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,590,320 (GRCm39) |
M794T |
probably damaging |
Het |
F11 |
G |
T |
8: 45,703,132 (GRCm39) |
S186Y |
probably damaging |
Het |
Fam184b |
A |
T |
5: 45,690,165 (GRCm39) |
F815I |
possibly damaging |
Het |
Fezf2 |
T |
C |
14: 12,343,705 (GRCm38) |
I347V |
probably benign |
Het |
Fip1l1 |
C |
T |
5: 74,706,084 (GRCm39) |
T114I |
possibly damaging |
Het |
Gbp7 |
A |
C |
3: 142,252,211 (GRCm39) |
D598A |
probably benign |
Het |
Gm1110 |
T |
A |
9: 26,794,526 (GRCm39) |
D500V |
probably benign |
Het |
Gm3248 |
T |
A |
14: 5,943,928 (GRCm38) |
M99L |
probably benign |
Het |
Gpi-ps |
A |
T |
8: 5,689,896 (GRCm39) |
|
noncoding transcript |
Het |
Hspa9 |
G |
A |
18: 35,081,028 (GRCm39) |
R218* |
probably null |
Het |
Ikbip |
G |
A |
10: 90,929,119 (GRCm39) |
|
probably null |
Het |
Kcnb2 |
C |
T |
1: 15,781,033 (GRCm39) |
T635M |
probably benign |
Het |
Krtap29-1 |
T |
A |
11: 99,869,105 (GRCm39) |
I259F |
possibly damaging |
Het |
Lnpep |
T |
C |
17: 17,791,219 (GRCm39) |
T442A |
probably benign |
Het |
Mgat1 |
T |
A |
11: 49,151,562 (GRCm39) |
I15N |
probably damaging |
Het |
Nlrp9c |
A |
T |
7: 26,084,576 (GRCm39) |
S334R |
probably benign |
Het |
Notch2 |
A |
T |
3: 98,054,612 (GRCm39) |
D2425V |
probably damaging |
Het |
Ntn1 |
C |
T |
11: 68,104,089 (GRCm39) |
V520M |
probably damaging |
Het |
Or10d1b |
A |
G |
9: 39,613,549 (GRCm39) |
V172A |
probably damaging |
Het |
Or4p18 |
T |
A |
2: 88,232,421 (GRCm39) |
T286S |
possibly damaging |
Het |
Or5d39 |
A |
T |
2: 87,979,922 (GRCm39) |
V147E |
probably damaging |
Het |
Or6c3b |
T |
A |
10: 129,527,887 (GRCm39) |
T8S |
probably benign |
Het |
Or8g55 |
A |
T |
9: 39,784,781 (GRCm39) |
D70V |
probably damaging |
Het |
Or8k39 |
A |
C |
2: 86,563,521 (GRCm39) |
I145R |
possibly damaging |
Het |
Osr2 |
A |
G |
15: 35,302,138 (GRCm39) |
H246R |
probably damaging |
Het |
Papolg |
T |
C |
11: 23,829,898 (GRCm39) |
R224G |
probably damaging |
Het |
Pax6 |
T |
A |
2: 105,522,623 (GRCm39) |
|
probably null |
Het |
Pcyox1 |
A |
G |
6: 86,369,250 (GRCm39) |
V192A |
probably benign |
Het |
Phf1 |
C |
T |
17: 27,154,260 (GRCm39) |
A159V |
possibly damaging |
Het |
Ppfia4 |
G |
A |
1: 134,260,129 (GRCm39) |
R45W |
probably damaging |
Het |
Psmb9 |
T |
A |
17: 34,402,653 (GRCm39) |
K109M |
probably damaging |
Het |
Ptprt |
T |
A |
2: 161,769,593 (GRCm39) |
Y424F |
probably benign |
Het |
Ptrh2 |
A |
G |
11: 86,580,592 (GRCm39) |
I70V |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,309,135 (GRCm39) |
|
probably benign |
Het |
Rom1 |
T |
A |
19: 8,905,368 (GRCm39) |
I271F |
probably benign |
Het |
Satb2 |
T |
A |
1: 56,835,952 (GRCm39) |
D731V |
possibly damaging |
Het |
Serpinb7 |
G |
T |
1: 107,375,859 (GRCm39) |
G159V |
possibly damaging |
Het |
Slit1 |
T |
C |
19: 41,634,579 (GRCm39) |
I393V |
probably damaging |
Het |
Spata20 |
T |
A |
11: 94,374,289 (GRCm39) |
D327V |
probably damaging |
Het |
Spata31e3 |
G |
A |
13: 50,400,721 (GRCm39) |
P535L |
probably benign |
Het |
Spmap2l |
A |
T |
5: 77,208,605 (GRCm39) |
I378L |
probably benign |
Het |
Tbc1d32 |
G |
T |
10: 56,027,871 (GRCm39) |
Q744K |
possibly damaging |
Het |
Tmem108 |
G |
T |
9: 103,366,439 (GRCm39) |
N517K |
possibly damaging |
Het |
Trp63 |
T |
A |
16: 25,681,211 (GRCm39) |
N160K |
probably damaging |
Het |
Ttll5 |
T |
C |
12: 85,980,385 (GRCm39) |
S119P |
probably damaging |
Het |
Ubqln3 |
T |
A |
7: 103,791,523 (GRCm39) |
Q189L |
probably damaging |
Het |
Vwa5a |
G |
A |
9: 38,649,072 (GRCm39) |
R638H |
probably benign |
Het |
Wdr3 |
A |
G |
3: 100,058,298 (GRCm39) |
S436P |
probably damaging |
Het |
Zfp975 |
A |
T |
7: 42,312,215 (GRCm39) |
C133S |
probably damaging |
Het |
Zfp976 |
A |
T |
7: 42,263,656 (GRCm39) |
|
probably benign |
Het |
Zmiz1 |
A |
G |
14: 25,657,303 (GRCm39) |
M860V |
probably damaging |
Het |
Zscan4d |
T |
C |
7: 10,896,296 (GRCm39) |
E358G |
probably benign |
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 |
|
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 |
|
R6525:Abca4
|
UTSW |
3 |
121,931,308 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|