Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
A |
16: 20,157,675 (GRCm39) |
T1294M |
probably damaging |
Het |
Bad |
A |
G |
19: 6,928,785 (GRCm39) |
S128G |
probably damaging |
Het |
Casp9 |
T |
G |
4: 141,539,515 (GRCm39) |
|
probably null |
Het |
Ccdc39 |
T |
C |
3: 33,879,547 (GRCm39) |
K507R |
possibly damaging |
Het |
Cep76 |
A |
G |
18: 67,767,987 (GRCm39) |
S182P |
probably benign |
Het |
Cmklr2 |
T |
C |
1: 63,222,827 (GRCm39) |
Y136C |
probably damaging |
Het |
Cmtr2 |
A |
G |
8: 110,948,322 (GRCm39) |
M211V |
possibly damaging |
Het |
Cobl |
T |
A |
11: 12,204,351 (GRCm39) |
K777* |
probably null |
Het |
Cul9 |
T |
G |
17: 46,834,184 (GRCm39) |
T1253P |
possibly damaging |
Het |
Dmd |
T |
A |
X: 83,892,342 (GRCm39) |
L3002H |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 66,015,979 (GRCm39) |
V421I |
probably benign |
Het |
Eif4a2 |
A |
G |
16: 22,929,399 (GRCm39) |
I234V |
probably benign |
Het |
Epha4 |
T |
C |
1: 77,421,514 (GRCm39) |
M323V |
probably benign |
Het |
Fam47c |
A |
G |
X: 77,781,943 (GRCm39) |
D175G |
probably benign |
Het |
Gm14178 |
T |
C |
11: 99,638,341 (GRCm39) |
|
|
Het |
Hes3 |
T |
C |
4: 152,371,397 (GRCm39) |
N184S |
probably benign |
Het |
Kdm6a |
A |
G |
X: 18,112,549 (GRCm39) |
E45G |
probably damaging |
Het |
Kdr |
T |
C |
5: 76,135,126 (GRCm39) |
K33E |
probably benign |
Het |
Or2a52 |
A |
C |
6: 43,144,022 (GRCm39) |
D10A |
probably benign |
Het |
Or4k37 |
A |
T |
2: 111,158,920 (GRCm39) |
D52V |
probably damaging |
Het |
Or4k45 |
A |
T |
2: 111,394,883 (GRCm39) |
I302K |
probably benign |
Het |
Or52n4b |
A |
G |
7: 108,144,187 (GRCm39) |
T150A |
probably benign |
Het |
Or8h7 |
A |
G |
2: 86,720,964 (GRCm39) |
L185S |
probably damaging |
Het |
Pi4ka |
A |
T |
16: 17,196,296 (GRCm39) |
|
probably benign |
Het |
Pigk |
T |
A |
3: 152,448,120 (GRCm39) |
|
probably null |
Het |
Pikfyve |
A |
G |
1: 65,290,771 (GRCm39) |
T1197A |
possibly damaging |
Het |
Plppr4 |
T |
C |
3: 117,115,944 (GRCm39) |
I638V |
probably benign |
Het |
Pramel28 |
T |
C |
4: 143,693,229 (GRCm39) |
D83G |
possibly damaging |
Het |
Rtl9 |
T |
C |
X: 141,886,098 (GRCm39) |
V1170A |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,731,250 (GRCm39) |
S687P |
possibly damaging |
Het |
Socs5 |
G |
T |
17: 87,442,320 (GRCm39) |
R420L |
probably damaging |
Het |
Sos1 |
C |
T |
17: 80,742,372 (GRCm39) |
S385N |
possibly damaging |
Het |
Tomm34 |
A |
T |
2: 163,906,875 (GRCm39) |
V106D |
probably damaging |
Het |
Tubal3 |
T |
C |
13: 3,982,750 (GRCm39) |
S177P |
probably damaging |
Het |
Wbp2nl |
G |
A |
15: 82,190,374 (GRCm39) |
A101T |
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 |
|
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 |
|
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 |
|
|