Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,621,969 (GRCm39) |
|
probably null |
Het |
Abca7 |
T |
A |
10: 79,838,957 (GRCm39) |
|
probably benign |
Het |
Acvr1c |
T |
G |
2: 58,205,986 (GRCm39) |
Q41H |
probably benign |
Het |
Apob |
A |
T |
12: 8,050,898 (GRCm39) |
N1041Y |
probably damaging |
Het |
Asb5 |
A |
T |
8: 55,038,798 (GRCm39) |
|
probably benign |
Het |
Asxl3 |
A |
T |
18: 22,650,516 (GRCm39) |
E835V |
probably benign |
Het |
Ccdc73 |
A |
T |
2: 104,737,972 (GRCm39) |
M23L |
probably benign |
Het |
Cep170b |
G |
A |
12: 112,702,086 (GRCm39) |
R293H |
probably damaging |
Het |
Chd8 |
C |
A |
14: 52,448,032 (GRCm39) |
L316F |
probably damaging |
Het |
Cldn13 |
T |
C |
5: 134,944,114 (GRCm39) |
S24G |
possibly damaging |
Het |
Cnot10 |
A |
T |
9: 114,460,923 (GRCm39) |
N82K |
probably benign |
Het |
Colec10 |
G |
A |
15: 54,323,157 (GRCm39) |
V127M |
probably damaging |
Het |
Cyp2d40 |
T |
C |
15: 82,645,478 (GRCm39) |
S130G |
unknown |
Het |
Ddx60 |
T |
A |
8: 62,435,560 (GRCm39) |
H904Q |
probably damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,252,362 (GRCm39) |
S435T |
probably benign |
Het |
Dnajc2 |
T |
C |
5: 21,979,974 (GRCm39) |
N177S |
possibly damaging |
Het |
F5 |
G |
T |
1: 164,021,181 (GRCm39) |
V1219L |
probably benign |
Het |
Fam47c |
G |
T |
X: 77,781,454 (GRCm39) |
R12L |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,061,350 (GRCm39) |
I4311T |
possibly damaging |
Het |
Fbf1 |
A |
G |
11: 116,041,907 (GRCm39) |
V545A |
probably benign |
Het |
Fhod3 |
G |
A |
18: 25,153,777 (GRCm39) |
E420K |
probably damaging |
Het |
Ikzf2 |
T |
C |
1: 69,578,589 (GRCm39) |
K162E |
probably damaging |
Het |
Insl6 |
C |
A |
19: 29,298,953 (GRCm39) |
S153I |
possibly damaging |
Het |
Kcnh8 |
A |
G |
17: 53,141,708 (GRCm39) |
Y317C |
probably damaging |
Het |
Lzts1 |
C |
A |
8: 69,591,759 (GRCm39) |
V130L |
probably benign |
Het |
Mill1 |
T |
C |
7: 17,998,558 (GRCm39) |
I256T |
possibly damaging |
Het |
Mycbpap |
A |
C |
11: 94,400,145 (GRCm39) |
|
probably null |
Het |
Or6c65 |
A |
G |
10: 129,603,464 (GRCm39) |
Y33C |
probably damaging |
Het |
Pdia6 |
T |
A |
12: 17,320,542 (GRCm39) |
|
probably benign |
Het |
Pik3c2b |
C |
T |
1: 132,999,369 (GRCm39) |
Q406* |
probably null |
Het |
Pkhd1 |
C |
A |
1: 20,271,248 (GRCm39) |
G3102C |
probably damaging |
Het |
Polr3b |
T |
A |
10: 84,561,607 (GRCm39) |
I1122N |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,653,371 (GRCm39) |
|
probably null |
Het |
Samhd1 |
A |
G |
2: 156,958,321 (GRCm39) |
I300T |
probably damaging |
Het |
Slc27a3 |
G |
T |
3: 90,293,861 (GRCm39) |
T541K |
probably damaging |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Sv2c |
C |
T |
13: 96,224,797 (GRCm39) |
V171M |
probably damaging |
Het |
Tenm2 |
A |
G |
11: 35,915,075 (GRCm39) |
V2154A |
probably damaging |
Het |
Thoc1 |
A |
T |
18: 9,987,158 (GRCm39) |
I433F |
probably benign |
Het |
Thoc2 |
A |
T |
X: 40,916,223 (GRCm39) |
V865D |
probably benign |
Het |
Trdn |
C |
A |
10: 33,076,216 (GRCm39) |
P282Q |
probably damaging |
Het |
Twsg1 |
C |
A |
17: 66,255,699 (GRCm39) |
C25F |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,423,206 (GRCm39) |
I3155N |
probably damaging |
Het |
Vmn2r106 |
T |
A |
17: 20,498,651 (GRCm39) |
Q420L |
probably damaging |
Het |
Vmn2r109 |
C |
T |
17: 20,770,419 (GRCm39) |
R523K |
probably 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 |
|
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 |
|
R7547:Skint5
|
UTSW |
4 |
113,483,785 (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 |
|
|