Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
T |
C |
17: 43,761,644 (GRCm39) |
L1113P |
probably damaging |
Het |
Aldh3b3 |
T |
C |
19: 4,013,970 (GRCm39) |
L57P |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,559,251 (GRCm39) |
D132G |
probably benign |
Het |
Cfap44 |
A |
G |
16: 44,250,298 (GRCm39) |
D792G |
probably damaging |
Het |
Col20a1 |
C |
T |
2: 180,649,408 (GRCm39) |
R1029W |
probably damaging |
Het |
Csf3r |
A |
G |
4: 125,931,403 (GRCm39) |
Y462C |
probably damaging |
Het |
Cthrc1 |
T |
C |
15: 38,940,511 (GRCm39) |
V38A |
probably benign |
Het |
Cxcr2 |
T |
C |
1: 74,197,998 (GRCm39) |
V164A |
probably benign |
Het |
Efr3b |
A |
G |
12: 4,034,574 (GRCm39) |
S199P |
probably damaging |
Het |
Elavl4 |
A |
G |
4: 110,063,663 (GRCm39) |
C342R |
probably damaging |
Het |
Gemin5 |
A |
T |
11: 58,042,356 (GRCm39) |
|
probably null |
Het |
Gm14190 |
A |
T |
11: 99,581,476 (GRCm39) |
C31S |
unknown |
Het |
Golt1b |
T |
A |
6: 142,339,769 (GRCm39) |
V78D |
probably damaging |
Het |
Gsdmc3 |
T |
A |
15: 63,741,061 (GRCm39) |
D29V |
probably damaging |
Het |
Itih1 |
T |
A |
14: 30,653,142 (GRCm39) |
D766V |
probably damaging |
Het |
Larp1b |
C |
T |
3: 40,926,879 (GRCm39) |
S251F |
probably damaging |
Het |
Lrp8 |
A |
G |
4: 107,691,940 (GRCm39) |
T115A |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,395,126 (GRCm39) |
S100P |
probably benign |
Het |
Lss |
T |
C |
10: 76,381,286 (GRCm39) |
V424A |
possibly damaging |
Het |
Ltbp1 |
T |
C |
17: 75,597,073 (GRCm39) |
V568A |
possibly damaging |
Het |
Myo10 |
A |
T |
15: 25,732,056 (GRCm39) |
T311S |
probably benign |
Het |
Nsd3 |
T |
C |
8: 26,172,578 (GRCm39) |
V779A |
probably benign |
Het |
Or10ak12 |
A |
T |
4: 118,666,130 (GRCm39) |
S310R |
probably damaging |
Het |
Or11h23 |
T |
A |
14: 50,948,219 (GRCm39) |
L144Q |
probably damaging |
Het |
Or2ag16 |
A |
G |
7: 106,351,843 (GRCm39) |
W251R |
possibly damaging |
Het |
Or2n1e |
C |
A |
17: 38,586,471 (GRCm39) |
Q270K |
probably damaging |
Het |
Or51v8 |
T |
C |
7: 103,320,152 (GRCm39) |
T29A |
probably benign |
Het |
Or5b21 |
A |
T |
19: 12,839,159 (GRCm39) |
I7F |
probably benign |
Het |
Pak1 |
T |
A |
7: 97,535,555 (GRCm39) |
D215E |
probably benign |
Het |
Pde7b |
A |
G |
10: 20,282,937 (GRCm39) |
F355L |
probably benign |
Het |
Phaf1 |
C |
A |
8: 105,978,236 (GRCm39) |
Q397K |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,194,787 (GRCm39) |
S204P |
|
Het |
Pirb |
T |
C |
7: 3,720,782 (GRCm39) |
K239E |
not run |
Het |
Pirb |
C |
T |
7: 3,720,800 (GRCm39) |
G233R |
not run |
Het |
Pnp |
G |
A |
14: 51,188,460 (GRCm39) |
M211I |
probably benign |
Het |
Pot1a |
A |
T |
6: 25,758,822 (GRCm39) |
L319Q |
probably benign |
Het |
Rspry1 |
G |
T |
8: 95,349,750 (GRCm39) |
C46F |
probably damaging |
Het |
Sanbr |
A |
C |
11: 23,556,757 (GRCm39) |
C408G |
probably benign |
Het |
Sec11c |
C |
T |
18: 65,945,783 (GRCm39) |
T82M |
possibly damaging |
Het |
Secisbp2 |
T |
C |
13: 51,827,134 (GRCm39) |
V414A |
probably benign |
Het |
Tenm2 |
A |
G |
11: 36,755,762 (GRCm39) |
F79L |
probably damaging |
Het |
Vmn2r2 |
A |
G |
3: 64,042,019 (GRCm39) |
V232A |
possibly damaging |
Het |
Zbtb17 |
T |
C |
4: 141,193,394 (GRCm39) |
S593P |
probably damaging |
Het |
Zfp143 |
T |
G |
7: 109,685,427 (GRCm39) |
C419G |
possibly damaging |
Het |
Zfp804b |
T |
C |
5: 6,821,293 (GRCm39) |
N590S |
possibly damaging |
Het |
|
Other mutations in Cep290 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00430:Cep290
|
APN |
10 |
100,344,586 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00499:Cep290
|
APN |
10 |
100,379,189 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00547:Cep290
|
APN |
10 |
100,346,570 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00573:Cep290
|
APN |
10 |
100,376,223 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00646:Cep290
|
APN |
10 |
100,337,016 (GRCm39) |
missense |
probably benign |
0.15 |
IGL00755:Cep290
|
APN |
10 |
100,366,966 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00835:Cep290
|
APN |
10 |
100,399,242 (GRCm39) |
nonsense |
probably null |
|
IGL00846:Cep290
|
APN |
10 |
100,376,195 (GRCm39) |
splice site |
probably benign |
|
IGL00985:Cep290
|
APN |
10 |
100,403,023 (GRCm39) |
splice site |
probably benign |
|
IGL01687:Cep290
|
APN |
10 |
100,336,067 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01782:Cep290
|
APN |
10 |
100,380,987 (GRCm39) |
nonsense |
probably null |
|
IGL02010:Cep290
|
APN |
10 |
100,397,207 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02010:Cep290
|
APN |
10 |
100,344,569 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02036:Cep290
|
APN |
10 |
100,393,962 (GRCm39) |
nonsense |
probably null |
|
IGL02039:Cep290
|
APN |
10 |
100,350,464 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02532:Cep290
|
APN |
10 |
100,380,927 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02950:Cep290
|
APN |
10 |
100,376,191 (GRCm39) |
splice site |
probably benign |
|
IGL03105:Cep290
|
APN |
10 |
100,387,686 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03179:Cep290
|
APN |
10 |
100,403,950 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL03271:Cep290
|
APN |
10 |
100,373,663 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03401:Cep290
|
APN |
10 |
100,336,127 (GRCm39) |
missense |
probably benign |
0.27 |
PIT4687001:Cep290
|
UTSW |
10 |
100,373,453 (GRCm39) |
missense |
probably benign |
0.28 |
R0025:Cep290
|
UTSW |
10 |
100,373,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R0127:Cep290
|
UTSW |
10 |
100,372,787 (GRCm39) |
splice site |
probably benign |
|
R0254:Cep290
|
UTSW |
10 |
100,350,436 (GRCm39) |
missense |
probably benign |
0.31 |
R0295:Cep290
|
UTSW |
10 |
100,373,683 (GRCm39) |
missense |
probably damaging |
0.99 |
R0371:Cep290
|
UTSW |
10 |
100,354,426 (GRCm39) |
splice site |
probably benign |
|
R0390:Cep290
|
UTSW |
10 |
100,344,620 (GRCm39) |
missense |
probably benign |
0.09 |
R0399:Cep290
|
UTSW |
10 |
100,390,262 (GRCm39) |
splice site |
probably benign |
|
R0413:Cep290
|
UTSW |
10 |
100,359,176 (GRCm39) |
nonsense |
probably null |
|
R0427:Cep290
|
UTSW |
10 |
100,352,041 (GRCm39) |
missense |
probably benign |
0.01 |
R0472:Cep290
|
UTSW |
10 |
100,387,317 (GRCm39) |
missense |
probably benign |
0.19 |
R0485:Cep290
|
UTSW |
10 |
100,385,206 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0635:Cep290
|
UTSW |
10 |
100,328,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R0675:Cep290
|
UTSW |
10 |
100,404,675 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0972:Cep290
|
UTSW |
10 |
100,354,624 (GRCm39) |
missense |
probably benign |
0.08 |
R1238:Cep290
|
UTSW |
10 |
100,353,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R1297:Cep290
|
UTSW |
10 |
100,374,962 (GRCm39) |
splice site |
probably benign |
|
R1368:Cep290
|
UTSW |
10 |
100,330,828 (GRCm39) |
splice site |
probably benign |
|
R1394:Cep290
|
UTSW |
10 |
100,373,391 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1437:Cep290
|
UTSW |
10 |
100,407,963 (GRCm39) |
missense |
probably benign |
0.00 |
R1493:Cep290
|
UTSW |
10 |
100,398,043 (GRCm39) |
missense |
probably benign |
0.21 |
R1496:Cep290
|
UTSW |
10 |
100,374,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R1539:Cep290
|
UTSW |
10 |
100,332,690 (GRCm39) |
missense |
probably benign |
0.06 |
R1598:Cep290
|
UTSW |
10 |
100,385,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R1616:Cep290
|
UTSW |
10 |
100,404,698 (GRCm39) |
missense |
probably benign |
|
R1712:Cep290
|
UTSW |
10 |
100,390,361 (GRCm39) |
missense |
probably benign |
0.02 |
R1753:Cep290
|
UTSW |
10 |
100,349,843 (GRCm39) |
missense |
probably benign |
|
R1773:Cep290
|
UTSW |
10 |
100,346,435 (GRCm39) |
missense |
probably benign |
|
R1775:Cep290
|
UTSW |
10 |
100,332,672 (GRCm39) |
missense |
probably damaging |
0.98 |
R1799:Cep290
|
UTSW |
10 |
100,352,058 (GRCm39) |
missense |
probably benign |
0.00 |
R1937:Cep290
|
UTSW |
10 |
100,333,815 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1991:Cep290
|
UTSW |
10 |
100,367,046 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2031:Cep290
|
UTSW |
10 |
100,348,262 (GRCm39) |
critical splice donor site |
probably null |
|
R2164:Cep290
|
UTSW |
10 |
100,354,657 (GRCm39) |
missense |
probably damaging |
0.96 |
R2393:Cep290
|
UTSW |
10 |
100,397,100 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2403:Cep290
|
UTSW |
10 |
100,373,299 (GRCm39) |
missense |
probably benign |
0.19 |
R3612:Cep290
|
UTSW |
10 |
100,377,443 (GRCm39) |
nonsense |
probably null |
|
R3800:Cep290
|
UTSW |
10 |
100,408,803 (GRCm39) |
missense |
probably damaging |
0.97 |
R4005:Cep290
|
UTSW |
10 |
100,374,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R4039:Cep290
|
UTSW |
10 |
100,348,263 (GRCm39) |
critical splice donor site |
probably null |
|
R4259:Cep290
|
UTSW |
10 |
100,350,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R4260:Cep290
|
UTSW |
10 |
100,350,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R4319:Cep290
|
UTSW |
10 |
100,374,909 (GRCm39) |
missense |
probably benign |
0.09 |
R4329:Cep290
|
UTSW |
10 |
100,373,530 (GRCm39) |
missense |
probably damaging |
0.98 |
R4573:Cep290
|
UTSW |
10 |
100,354,712 (GRCm39) |
missense |
probably benign |
|
R4614:Cep290
|
UTSW |
10 |
100,395,549 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4614:Cep290
|
UTSW |
10 |
100,344,602 (GRCm39) |
missense |
probably benign |
|
R4708:Cep290
|
UTSW |
10 |
100,359,126 (GRCm39) |
missense |
probably benign |
0.02 |
R4727:Cep290
|
UTSW |
10 |
100,399,132 (GRCm39) |
missense |
probably benign |
0.05 |
R4825:Cep290
|
UTSW |
10 |
100,324,210 (GRCm39) |
missense |
probably damaging |
0.96 |
R4839:Cep290
|
UTSW |
10 |
100,344,648 (GRCm39) |
missense |
probably damaging |
0.99 |
R4858:Cep290
|
UTSW |
10 |
100,330,773 (GRCm39) |
missense |
probably benign |
0.31 |
R4871:Cep290
|
UTSW |
10 |
100,384,776 (GRCm39) |
missense |
probably benign |
0.22 |
R5094:Cep290
|
UTSW |
10 |
100,402,892 (GRCm39) |
missense |
probably damaging |
0.97 |
R5103:Cep290
|
UTSW |
10 |
100,374,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R5499:Cep290
|
UTSW |
10 |
100,373,515 (GRCm39) |
missense |
probably damaging |
0.99 |
R5505:Cep290
|
UTSW |
10 |
100,335,048 (GRCm39) |
critical splice donor site |
probably null |
|
R5615:Cep290
|
UTSW |
10 |
100,367,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R5815:Cep290
|
UTSW |
10 |
100,393,970 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5883:Cep290
|
UTSW |
10 |
100,359,261 (GRCm39) |
missense |
probably benign |
0.44 |
R5889:Cep290
|
UTSW |
10 |
100,334,936 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5928:Cep290
|
UTSW |
10 |
100,387,692 (GRCm39) |
missense |
probably damaging |
0.99 |
R5992:Cep290
|
UTSW |
10 |
100,379,183 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6000:Cep290
|
UTSW |
10 |
100,377,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R6213:Cep290
|
UTSW |
10 |
100,359,222 (GRCm39) |
missense |
probably benign |
0.06 |
R6274:Cep290
|
UTSW |
10 |
100,366,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R6285:Cep290
|
UTSW |
10 |
100,359,191 (GRCm39) |
missense |
probably benign |
0.17 |
R6306:Cep290
|
UTSW |
10 |
100,367,028 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6593:Cep290
|
UTSW |
10 |
100,344,638 (GRCm39) |
missense |
probably benign |
0.01 |
R6649:Cep290
|
UTSW |
10 |
100,354,393 (GRCm39) |
missense |
probably benign |
0.28 |
R6692:Cep290
|
UTSW |
10 |
100,405,006 (GRCm39) |
splice site |
probably null |
|
R6788:Cep290
|
UTSW |
10 |
100,324,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R6847:Cep290
|
UTSW |
10 |
100,399,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R6947:Cep290
|
UTSW |
10 |
100,365,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R7035:Cep290
|
UTSW |
10 |
100,334,933 (GRCm39) |
missense |
probably benign |
0.07 |
R7073:Cep290
|
UTSW |
10 |
100,374,865 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7114:Cep290
|
UTSW |
10 |
100,379,220 (GRCm39) |
missense |
probably damaging |
0.98 |
R7256:Cep290
|
UTSW |
10 |
100,382,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R7258:Cep290
|
UTSW |
10 |
100,334,970 (GRCm39) |
missense |
probably benign |
0.01 |
R7311:Cep290
|
UTSW |
10 |
100,373,580 (GRCm39) |
missense |
probably damaging |
0.98 |
R7505:Cep290
|
UTSW |
10 |
100,352,127 (GRCm39) |
missense |
probably benign |
0.01 |
R7615:Cep290
|
UTSW |
10 |
100,328,543 (GRCm39) |
missense |
probably benign |
0.03 |
R7643:Cep290
|
UTSW |
10 |
100,373,415 (GRCm39) |
missense |
probably benign |
|
R7662:Cep290
|
UTSW |
10 |
100,373,665 (GRCm39) |
missense |
probably benign |
0.21 |
R7663:Cep290
|
UTSW |
10 |
100,390,398 (GRCm39) |
critical splice donor site |
probably null |
|
R7685:Cep290
|
UTSW |
10 |
100,375,919 (GRCm39) |
missense |
probably benign |
0.19 |
R7699:Cep290
|
UTSW |
10 |
100,376,231 (GRCm39) |
missense |
probably benign |
0.33 |
R7747:Cep290
|
UTSW |
10 |
100,394,038 (GRCm39) |
nonsense |
probably null |
|
R7757:Cep290
|
UTSW |
10 |
100,399,296 (GRCm39) |
missense |
probably benign |
|
R7843:Cep290
|
UTSW |
10 |
100,352,050 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7905:Cep290
|
UTSW |
10 |
100,390,352 (GRCm39) |
missense |
probably benign |
|
R8078:Cep290
|
UTSW |
10 |
100,408,749 (GRCm39) |
missense |
probably benign |
0.04 |
R8081:Cep290
|
UTSW |
10 |
100,394,038 (GRCm39) |
nonsense |
probably null |
|
R8094:Cep290
|
UTSW |
10 |
100,380,793 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8266:Cep290
|
UTSW |
10 |
100,395,533 (GRCm39) |
missense |
probably benign |
0.08 |
R8305:Cep290
|
UTSW |
10 |
100,380,796 (GRCm39) |
missense |
probably benign |
0.09 |
R8325:Cep290
|
UTSW |
10 |
100,353,670 (GRCm39) |
missense |
probably benign |
0.03 |
R8372:Cep290
|
UTSW |
10 |
100,385,203 (GRCm39) |
missense |
probably benign |
0.00 |
R8443:Cep290
|
UTSW |
10 |
100,331,706 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8497:Cep290
|
UTSW |
10 |
100,387,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R8778:Cep290
|
UTSW |
10 |
100,350,374 (GRCm39) |
nonsense |
probably null |
|
R8975:Cep290
|
UTSW |
10 |
100,349,782 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9146:Cep290
|
UTSW |
10 |
100,377,665 (GRCm39) |
missense |
probably benign |
0.44 |
R9264:Cep290
|
UTSW |
10 |
100,333,878 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9374:Cep290
|
UTSW |
10 |
100,372,729 (GRCm39) |
missense |
probably damaging |
0.98 |
R9448:Cep290
|
UTSW |
10 |
100,395,546 (GRCm39) |
missense |
probably benign |
0.32 |
R9499:Cep290
|
UTSW |
10 |
100,372,729 (GRCm39) |
missense |
probably damaging |
0.98 |
R9507:Cep290
|
UTSW |
10 |
100,330,785 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9539:Cep290
|
UTSW |
10 |
100,404,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R9547:Cep290
|
UTSW |
10 |
100,380,841 (GRCm39) |
missense |
probably benign |
0.00 |
R9551:Cep290
|
UTSW |
10 |
100,372,729 (GRCm39) |
missense |
probably damaging |
0.98 |
R9657:Cep290
|
UTSW |
10 |
100,351,003 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9731:Cep290
|
UTSW |
10 |
100,346,404 (GRCm39) |
missense |
probably damaging |
0.98 |
R9756:Cep290
|
UTSW |
10 |
100,352,034 (GRCm39) |
missense |
probably damaging |
0.97 |
R9777:Cep290
|
UTSW |
10 |
100,354,529 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Cep290
|
UTSW |
10 |
100,385,236 (GRCm39) |
critical splice donor site |
probably benign |
|
Z1177:Cep290
|
UTSW |
10 |
100,374,859 (GRCm39) |
missense |
possibly damaging |
0.89 |
Z1177:Cep290
|
UTSW |
10 |
100,333,806 (GRCm39) |
missense |
probably benign |
|
|