Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
T |
4: 53,109,269 (GRCm39) |
D146E |
probably benign |
Het |
Adgrl1 |
C |
T |
8: 84,665,513 (GRCm39) |
A1400V |
probably benign |
Het |
Ank2 |
A |
G |
3: 126,738,852 (GRCm39) |
V2344A |
unknown |
Het |
Anxa2r2 |
A |
T |
13: 120,488,457 (GRCm39) |
F31I |
probably damaging |
Het |
Aplnr |
A |
T |
2: 84,967,521 (GRCm39) |
D182V |
probably damaging |
Het |
Asb4 |
C |
T |
6: 5,398,350 (GRCm39) |
P105L |
probably damaging |
Het |
Ate1 |
C |
A |
7: 130,106,539 (GRCm39) |
R274I |
probably benign |
Het |
Ccdc43 |
A |
G |
11: 102,582,948 (GRCm39) |
V92A |
probably benign |
Het |
Cfap69 |
T |
A |
5: 5,654,290 (GRCm39) |
N548I |
possibly damaging |
Het |
Clpb |
A |
G |
7: 101,313,503 (GRCm39) |
|
probably null |
Het |
Ctnnal1 |
G |
A |
4: 56,817,032 (GRCm39) |
R597C |
probably damaging |
Het |
Dchs2 |
A |
G |
3: 83,263,434 (GRCm39) |
K3234R |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,702,996 (GRCm39) |
K151N |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,253,573 (GRCm39) |
I1826K |
possibly damaging |
Het |
Dnttip1 |
A |
G |
2: 164,609,799 (GRCm39) |
K289E |
probably benign |
Het |
Eppk1 |
G |
T |
15: 75,991,740 (GRCm39) |
Q1714K |
probably benign |
Het |
Exoc4 |
A |
G |
6: 33,816,056 (GRCm39) |
D674G |
possibly damaging |
Het |
Galnt7 |
A |
T |
8: 58,036,996 (GRCm39) |
V131D |
possibly damaging |
Het |
Glg1 |
C |
T |
8: 111,914,393 (GRCm39) |
V464M |
possibly damaging |
Het |
Hlcs |
G |
T |
16: 94,032,031 (GRCm39) |
S444* |
probably null |
Het |
Larp1 |
G |
T |
11: 57,943,405 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
C |
4: 123,335,410 (GRCm39) |
Y4386C |
probably damaging |
Het |
Mapt |
A |
G |
11: 104,213,138 (GRCm39) |
|
probably null |
Het |
Neb |
C |
T |
2: 52,172,637 (GRCm39) |
V1557I |
probably benign |
Het |
Nid2 |
A |
G |
14: 19,847,345 (GRCm39) |
T953A |
probably benign |
Het |
Or5b105 |
T |
C |
19: 13,080,407 (GRCm39) |
D87G |
not run |
Het |
Pax3 |
G |
A |
1: 78,099,231 (GRCm39) |
Q319* |
probably null |
Het |
Ppp2r1b |
T |
A |
9: 50,773,762 (GRCm39) |
S212R |
probably benign |
Het |
Prss29 |
T |
C |
17: 25,539,896 (GRCm39) |
L98P |
probably damaging |
Het |
Ptch2 |
T |
G |
4: 116,967,161 (GRCm39) |
L646R |
probably damaging |
Het |
Rasa2 |
T |
A |
9: 96,493,474 (GRCm39) |
E70V |
probably damaging |
Het |
Serf2 |
A |
G |
2: 121,281,256 (GRCm39) |
N65S |
possibly damaging |
Het |
Serpinb6b |
G |
A |
13: 33,158,907 (GRCm39) |
G155D |
probably benign |
Het |
Serpinb6c |
A |
G |
13: 34,077,875 (GRCm39) |
I165T |
possibly damaging |
Het |
Slc11a2 |
A |
G |
15: 100,295,651 (GRCm39) |
I490T |
possibly damaging |
Het |
Slx4 |
T |
C |
16: 3,803,436 (GRCm39) |
D1126G |
probably benign |
Het |
Tent4a |
G |
T |
13: 69,681,823 (GRCm39) |
P160Q |
probably benign |
Het |
Tln1 |
G |
T |
4: 43,545,206 (GRCm39) |
A1003E |
possibly damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Trav21-dv12 |
T |
C |
14: 54,114,072 (GRCm39) |
V64A |
probably damaging |
Het |
U2surp |
T |
C |
9: 95,361,402 (GRCm39) |
E620G |
possibly damaging |
Het |
Usp3 |
T |
C |
9: 66,449,906 (GRCm39) |
N179S |
possibly damaging |
Het |
Vps13d |
T |
C |
4: 144,784,108 (GRCm39) |
T3889A |
|
Het |
Vps35 |
C |
T |
8: 85,989,999 (GRCm39) |
V670M |
probably damaging |
Het |
Zfp626 |
T |
C |
7: 27,517,828 (GRCm39) |
S270P |
possibly damaging |
Het |
Zfp955a |
C |
T |
17: 33,461,797 (GRCm39) |
V112M |
probably benign |
Het |
Zranb2 |
T |
C |
3: 157,246,806 (GRCm39) |
S165P |
possibly damaging |
Het |
|
Other mutations in Skint5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00990:Skint5
|
APN |
4 |
113,400,070 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01288:Skint5
|
APN |
4 |
113,381,332 (GRCm39) |
intron |
probably benign |
|
IGL01313:Skint5
|
APN |
4 |
113,662,361 (GRCm39) |
missense |
unknown |
|
IGL01446:Skint5
|
APN |
4 |
113,800,019 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01861:Skint5
|
APN |
4 |
113,417,021 (GRCm39) |
splice site |
probably benign |
|
IGL01955:Skint5
|
APN |
4 |
113,480,933 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02150:Skint5
|
APN |
4 |
113,742,988 (GRCm39) |
missense |
unknown |
|
IGL02190:Skint5
|
APN |
4 |
113,797,962 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02271:Skint5
|
APN |
4 |
113,794,778 (GRCm39) |
splice site |
probably null |
|
IGL02426:Skint5
|
APN |
4 |
113,797,981 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02484:Skint5
|
APN |
4 |
113,799,750 (GRCm39) |
nonsense |
probably null |
|
IGL02548:Skint5
|
APN |
4 |
113,588,273 (GRCm39) |
missense |
unknown |
|
IGL02556:Skint5
|
APN |
4 |
113,797,932 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02674:Skint5
|
APN |
4 |
113,487,582 (GRCm39) |
splice site |
probably benign |
|
IGL02697:Skint5
|
APN |
4 |
113,336,910 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02710:Skint5
|
APN |
4 |
113,335,156 (GRCm39) |
missense |
unknown |
|
IGL02721:Skint5
|
APN |
4 |
113,799,746 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02750:Skint5
|
APN |
4 |
113,396,559 (GRCm39) |
missense |
unknown |
|
IGL03121:Skint5
|
APN |
4 |
113,574,284 (GRCm39) |
missense |
unknown |
|
IGL03167:Skint5
|
APN |
4 |
113,751,047 (GRCm39) |
missense |
unknown |
|
IGL03247:Skint5
|
APN |
4 |
113,798,005 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03264:Skint5
|
APN |
4 |
113,343,854 (GRCm39) |
missense |
unknown |
|
IGL03281:Skint5
|
APN |
4 |
113,524,415 (GRCm39) |
missense |
unknown |
|
IGL03353:Skint5
|
APN |
4 |
113,599,379 (GRCm39) |
missense |
unknown |
|
IGL03377:Skint5
|
APN |
4 |
113,620,735 (GRCm39) |
missense |
unknown |
|
PIT4377001:Skint5
|
UTSW |
4 |
113,454,900 (GRCm39) |
missense |
unknown |
|
R0006:Skint5
|
UTSW |
4 |
113,751,059 (GRCm39) |
splice site |
probably benign |
|
R0026:Skint5
|
UTSW |
4 |
113,403,665 (GRCm39) |
splice site |
probably benign |
|
R0096:Skint5
|
UTSW |
4 |
113,454,965 (GRCm39) |
splice site |
probably benign |
|
R0096:Skint5
|
UTSW |
4 |
113,454,965 (GRCm39) |
splice site |
probably benign |
|
R0277:Skint5
|
UTSW |
4 |
113,794,818 (GRCm39) |
missense |
probably benign |
0.04 |
R0323:Skint5
|
UTSW |
4 |
113,794,818 (GRCm39) |
missense |
probably benign |
0.04 |
R0369:Skint5
|
UTSW |
4 |
113,369,220 (GRCm39) |
critical splice donor site |
probably null |
|
R0375:Skint5
|
UTSW |
4 |
113,562,793 (GRCm39) |
missense |
unknown |
|
R0464:Skint5
|
UTSW |
4 |
113,392,928 (GRCm39) |
missense |
unknown |
|
R0479:Skint5
|
UTSW |
4 |
113,512,869 (GRCm39) |
missense |
unknown |
|
R0507:Skint5
|
UTSW |
4 |
113,425,127 (GRCm39) |
splice site |
probably null |
|
R0533:Skint5
|
UTSW |
4 |
113,685,064 (GRCm39) |
missense |
unknown |
|
R0628:Skint5
|
UTSW |
4 |
113,588,266 (GRCm39) |
nonsense |
probably null |
|
R0645:Skint5
|
UTSW |
4 |
113,620,679 (GRCm39) |
missense |
unknown |
|
R1201:Skint5
|
UTSW |
4 |
113,413,342 (GRCm39) |
missense |
unknown |
|
R1240:Skint5
|
UTSW |
4 |
113,574,304 (GRCm39) |
missense |
unknown |
|
R1270:Skint5
|
UTSW |
4 |
113,799,856 (GRCm39) |
nonsense |
probably null |
|
R1390:Skint5
|
UTSW |
4 |
113,512,881 (GRCm39) |
missense |
unknown |
|
R1398:Skint5
|
UTSW |
4 |
113,636,268 (GRCm39) |
missense |
unknown |
|
R1438:Skint5
|
UTSW |
4 |
113,413,308 (GRCm39) |
splice site |
probably benign |
|
R1591:Skint5
|
UTSW |
4 |
113,856,651 (GRCm39) |
critical splice donor site |
probably null |
|
R1631:Skint5
|
UTSW |
4 |
113,341,123 (GRCm39) |
missense |
probably benign |
0.23 |
R1653:Skint5
|
UTSW |
4 |
113,347,875 (GRCm39) |
missense |
unknown |
|
R1722:Skint5
|
UTSW |
4 |
113,703,508 (GRCm39) |
splice site |
probably null |
|
R1735:Skint5
|
UTSW |
4 |
113,420,656 (GRCm39) |
missense |
unknown |
|
R1765:Skint5
|
UTSW |
4 |
113,434,858 (GRCm39) |
missense |
unknown |
|
R2054:Skint5
|
UTSW |
4 |
113,676,360 (GRCm39) |
critical splice donor site |
probably null |
|
R2058:Skint5
|
UTSW |
4 |
113,727,897 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2197:Skint5
|
UTSW |
4 |
113,798,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R2239:Skint5
|
UTSW |
4 |
113,403,733 (GRCm39) |
missense |
unknown |
|
R2380:Skint5
|
UTSW |
4 |
113,403,733 (GRCm39) |
missense |
unknown |
|
R2406:Skint5
|
UTSW |
4 |
113,799,864 (GRCm39) |
missense |
probably damaging |
0.97 |
R2512:Skint5
|
UTSW |
4 |
113,487,616 (GRCm39) |
missense |
unknown |
|
R2913:Skint5
|
UTSW |
4 |
113,381,289 (GRCm39) |
intron |
probably benign |
|
R3522:Skint5
|
UTSW |
4 |
113,614,102 (GRCm39) |
critical splice donor site |
probably null |
|
R3779:Skint5
|
UTSW |
4 |
113,636,237 (GRCm39) |
splice site |
probably benign |
|
R3815:Skint5
|
UTSW |
4 |
113,703,496 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3815:Skint5
|
UTSW |
4 |
113,486,319 (GRCm39) |
splice site |
probably benign |
|
R3816:Skint5
|
UTSW |
4 |
113,486,319 (GRCm39) |
splice site |
probably benign |
|
R3817:Skint5
|
UTSW |
4 |
113,486,319 (GRCm39) |
splice site |
probably benign |
|
R3818:Skint5
|
UTSW |
4 |
113,486,319 (GRCm39) |
splice site |
probably benign |
|
R3837:Skint5
|
UTSW |
4 |
113,797,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R3943:Skint5
|
UTSW |
4 |
113,799,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R3944:Skint5
|
UTSW |
4 |
113,799,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R4037:Skint5
|
UTSW |
4 |
113,743,011 (GRCm39) |
missense |
unknown |
|
R4038:Skint5
|
UTSW |
4 |
113,743,011 (GRCm39) |
missense |
unknown |
|
R4039:Skint5
|
UTSW |
4 |
113,743,011 (GRCm39) |
missense |
unknown |
|
R4280:Skint5
|
UTSW |
4 |
113,799,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4308:Skint5
|
UTSW |
4 |
113,341,164 (GRCm39) |
missense |
unknown |
|
R4386:Skint5
|
UTSW |
4 |
113,341,090 (GRCm39) |
missense |
probably benign |
0.23 |
R4513:Skint5
|
UTSW |
4 |
113,599,382 (GRCm39) |
missense |
unknown |
|
R4575:Skint5
|
UTSW |
4 |
113,524,390 (GRCm39) |
missense |
unknown |
|
R4631:Skint5
|
UTSW |
4 |
113,486,314 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4722:Skint5
|
UTSW |
4 |
113,751,052 (GRCm39) |
missense |
unknown |
|
R4854:Skint5
|
UTSW |
4 |
113,437,725 (GRCm39) |
missense |
unknown |
|
R5010:Skint5
|
UTSW |
4 |
113,403,734 (GRCm39) |
missense |
unknown |
|
R5070:Skint5
|
UTSW |
4 |
113,652,735 (GRCm39) |
missense |
unknown |
|
R5158:Skint5
|
UTSW |
4 |
113,599,409 (GRCm39) |
missense |
unknown |
|
R5163:Skint5
|
UTSW |
4 |
113,652,762 (GRCm39) |
missense |
unknown |
|
R5190:Skint5
|
UTSW |
4 |
113,620,711 (GRCm39) |
missense |
unknown |
|
R5232:Skint5
|
UTSW |
4 |
113,434,841 (GRCm39) |
missense |
unknown |
|
R5257:Skint5
|
UTSW |
4 |
113,434,859 (GRCm39) |
missense |
unknown |
|
R5499:Skint5
|
UTSW |
4 |
113,799,700 (GRCm39) |
critical splice donor site |
probably null |
|
R5569:Skint5
|
UTSW |
4 |
113,545,903 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5776:Skint5
|
UTSW |
4 |
113,620,700 (GRCm39) |
missense |
unknown |
|
R5986:Skint5
|
UTSW |
4 |
113,852,845 (GRCm39) |
missense |
probably benign |
0.11 |
R5987:Skint5
|
UTSW |
4 |
113,743,005 (GRCm39) |
missense |
unknown |
|
R5995:Skint5
|
UTSW |
4 |
113,751,029 (GRCm39) |
missense |
unknown |
|
R6063:Skint5
|
UTSW |
4 |
113,347,842 (GRCm39) |
missense |
probably benign |
0.23 |
R6074:Skint5
|
UTSW |
4 |
113,662,397 (GRCm39) |
missense |
unknown |
|
R6111:Skint5
|
UTSW |
4 |
113,562,845 (GRCm39) |
missense |
unknown |
|
R6173:Skint5
|
UTSW |
4 |
113,392,907 (GRCm39) |
missense |
unknown |
|
R6238:Skint5
|
UTSW |
4 |
113,800,064 (GRCm39) |
splice site |
probably null |
|
R6248:Skint5
|
UTSW |
4 |
113,636,286 (GRCm39) |
missense |
unknown |
|
R6318:Skint5
|
UTSW |
4 |
113,374,330 (GRCm39) |
missense |
unknown |
|
R6370:Skint5
|
UTSW |
4 |
113,471,307 (GRCm39) |
missense |
unknown |
|
R6404:Skint5
|
UTSW |
4 |
113,799,806 (GRCm39) |
missense |
probably damaging |
0.97 |
R6499:Skint5
|
UTSW |
4 |
113,396,552 (GRCm39) |
missense |
unknown |
|
R6646:Skint5
|
UTSW |
4 |
113,797,974 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6737:Skint5
|
UTSW |
4 |
113,392,936 (GRCm39) |
missense |
unknown |
|
R6795:Skint5
|
UTSW |
4 |
113,524,420 (GRCm39) |
missense |
unknown |
|
R6815:Skint5
|
UTSW |
4 |
113,574,324 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6935:Skint5
|
UTSW |
4 |
113,799,793 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7028:Skint5
|
UTSW |
4 |
113,798,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R7043:Skint5
|
UTSW |
4 |
113,574,304 (GRCm39) |
missense |
unknown |
|
R7071:Skint5
|
UTSW |
4 |
113,636,277 (GRCm39) |
missense |
unknown |
|
R7142:Skint5
|
UTSW |
4 |
113,428,791 (GRCm39) |
missense |
unknown |
|
R7197:Skint5
|
UTSW |
4 |
113,437,679 (GRCm39) |
critical splice donor site |
probably null |
|
R7208:Skint5
|
UTSW |
4 |
113,396,536 (GRCm39) |
missense |
unknown |
|
R7297:Skint5
|
UTSW |
4 |
113,400,131 (GRCm39) |
missense |
unknown |
|
R7470:Skint5
|
UTSW |
4 |
113,743,000 (GRCm39) |
missense |
unknown |
|
R7470:Skint5
|
UTSW |
4 |
113,614,128 (GRCm39) |
missense |
unknown |
|
R7500:Skint5
|
UTSW |
4 |
113,417,035 (GRCm39) |
missense |
unknown |
|
R7556:Skint5
|
UTSW |
4 |
113,425,162 (GRCm39) |
missense |
unknown |
|
R7619:Skint5
|
UTSW |
4 |
113,381,305 (GRCm39) |
missense |
unknown |
|
R7629:Skint5
|
UTSW |
4 |
113,799,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R7646:Skint5
|
UTSW |
4 |
113,620,739 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7725:Skint5
|
UTSW |
4 |
113,685,099 (GRCm39) |
missense |
unknown |
|
R7788:Skint5
|
UTSW |
4 |
113,403,715 (GRCm39) |
missense |
unknown |
|
R7818:Skint5
|
UTSW |
4 |
113,799,923 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7819:Skint5
|
UTSW |
4 |
113,417,032 (GRCm39) |
missense |
unknown |
|
R7958:Skint5
|
UTSW |
4 |
113,480,980 (GRCm39) |
missense |
unknown |
|
R8150:Skint5
|
UTSW |
4 |
113,798,087 (GRCm39) |
missense |
probably benign |
0.21 |
R8214:Skint5
|
UTSW |
4 |
113,662,139 (GRCm39) |
splice site |
probably null |
|
R8413:Skint5
|
UTSW |
4 |
113,572,900 (GRCm39) |
missense |
unknown |
|
R8420:Skint5
|
UTSW |
4 |
113,437,679 (GRCm39) |
critical splice donor site |
probably null |
|
R8459:Skint5
|
UTSW |
4 |
113,703,481 (GRCm39) |
nonsense |
probably null |
|
R8703:Skint5
|
UTSW |
4 |
113,733,207 (GRCm39) |
missense |
unknown |
|
R8710:Skint5
|
UTSW |
4 |
113,483,787 (GRCm39) |
missense |
unknown |
|
R8927:Skint5
|
UTSW |
4 |
113,341,099 (GRCm39) |
missense |
probably benign |
0.23 |
R8928:Skint5
|
UTSW |
4 |
113,341,099 (GRCm39) |
missense |
probably benign |
0.23 |
R8950:Skint5
|
UTSW |
4 |
113,374,349 (GRCm39) |
missense |
unknown |
|
R9047:Skint5
|
UTSW |
4 |
113,512,919 (GRCm39) |
missense |
unknown |
|
R9053:Skint5
|
UTSW |
4 |
113,403,684 (GRCm39) |
missense |
unknown |
|
R9216:Skint5
|
UTSW |
4 |
113,392,955 (GRCm39) |
missense |
unknown |
|
R9441:Skint5
|
UTSW |
4 |
113,347,848 (GRCm39) |
missense |
unknown |
|
R9551:Skint5
|
UTSW |
4 |
113,798,052 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9552:Skint5
|
UTSW |
4 |
113,798,052 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9750:Skint5
|
UTSW |
4 |
113,727,866 (GRCm39) |
missense |
unknown |
|
X0028:Skint5
|
UTSW |
4 |
113,548,306 (GRCm39) |
missense |
unknown |
|
|