Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
Abca2 |
A |
G |
2: 25,336,083 (GRCm39) |
Y2151C |
probably damaging |
Het |
Adamts3 |
T |
A |
5: 89,853,123 (GRCm39) |
H509L |
probably damaging |
Het |
Agfg2 |
T |
C |
5: 137,652,036 (GRCm39) |
D441G |
probably benign |
Het |
Arl8b |
T |
A |
6: 108,790,658 (GRCm39) |
V65D |
probably damaging |
Het |
As3mt |
A |
T |
19: 46,696,216 (GRCm39) |
D8V |
probably benign |
Het |
Ass1 |
G |
T |
2: 31,400,117 (GRCm39) |
|
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,972,451 (GRCm39) |
I634V |
possibly damaging |
Het |
Cflar |
T |
C |
1: 58,791,582 (GRCm39) |
V298A |
probably benign |
Het |
Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
Dlec1 |
C |
T |
9: 118,953,911 (GRCm39) |
A610V |
probably damaging |
Het |
Dock1 |
C |
T |
7: 134,346,015 (GRCm39) |
R186* |
probably null |
Het |
E130018O15Rik |
T |
C |
5: 35,540,110 (GRCm39) |
|
noncoding transcript |
Het |
Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
Gipc2 |
T |
C |
3: 151,871,481 (GRCm39) |
K15R |
probably benign |
Het |
Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
Glipr2 |
G |
T |
4: 43,977,522 (GRCm39) |
A51S |
possibly damaging |
Het |
Gsdme |
A |
C |
6: 50,196,391 (GRCm39) |
S340A |
probably benign |
Het |
H2-M10.2 |
A |
T |
17: 36,597,254 (GRCm39) |
Y20* |
probably null |
Het |
Hapstr1 |
T |
A |
16: 8,648,358 (GRCm39) |
I12N |
probably damaging |
Het |
Hlcs |
A |
G |
16: 93,933,947 (GRCm39) |
V242A |
probably benign |
Het |
Ifi44 |
T |
C |
3: 151,454,894 (GRCm39) |
I110M |
possibly damaging |
Het |
Il18r1 |
T |
C |
1: 40,526,132 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Khk |
T |
C |
5: 31,084,060 (GRCm39) |
S80P |
probably damaging |
Het |
Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
Myo1g |
A |
G |
11: 6,460,926 (GRCm39) |
V706A |
probably benign |
Het |
Npat |
T |
C |
9: 53,481,216 (GRCm39) |
S1008P |
probably damaging |
Het |
Or2ag18 |
A |
G |
7: 106,405,027 (GRCm39) |
I214T |
probably damaging |
Het |
Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
Pcdha2 |
A |
G |
18: 37,074,748 (GRCm39) |
Y793C |
probably benign |
Het |
Pcdhb4 |
A |
T |
18: 37,441,065 (GRCm39) |
D125V |
probably damaging |
Het |
Pdgfrb |
A |
G |
18: 61,212,017 (GRCm39) |
D844G |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,844,834 (GRCm39) |
D1375G |
probably damaging |
Het |
Pigu |
A |
T |
2: 155,141,063 (GRCm39) |
F276I |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
Rac2 |
T |
C |
15: 78,450,199 (GRCm39) |
D47G |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sall1 |
G |
T |
8: 89,759,303 (GRCm39) |
A267E |
probably benign |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Serpina3k |
A |
G |
12: 104,307,221 (GRCm39) |
E151G |
probably benign |
Het |
Slc51b |
A |
G |
9: 65,321,300 (GRCm39) |
|
probably benign |
Het |
Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
Star |
G |
A |
8: 26,299,905 (GRCm39) |
M82I |
probably benign |
Het |
Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Usp32 |
A |
G |
11: 84,885,210 (GRCm39) |
|
probably null |
Het |
Vmn2r18 |
T |
C |
5: 151,485,148 (GRCm39) |
N782S |
probably benign |
Het |
Vwa3a |
A |
G |
7: 120,399,602 (GRCm39) |
T1028A |
probably benign |
Het |
Xrn2 |
G |
A |
2: 146,870,120 (GRCm39) |
G270R |
probably damaging |
Het |
Zbbx |
G |
T |
3: 74,992,802 (GRCm39) |
Q231K |
probably benign |
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 |
|
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 |
|
|