Other mutations in this stock |
Total: 106 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano2 |
A |
G |
6: 125,840,501 (GRCm39) |
I391V |
probably benign |
Het |
Apc |
T |
A |
18: 34,431,647 (GRCm39) |
L349M |
probably damaging |
Het |
Atmin |
A |
G |
8: 117,684,698 (GRCm39) |
D786G |
probably damaging |
Het |
Atp8a1 |
T |
A |
5: 67,919,929 (GRCm39) |
D379V |
possibly damaging |
Het |
Aurkb |
A |
G |
11: 68,939,435 (GRCm39) |
K173E |
probably damaging |
Het |
Bak1 |
T |
C |
17: 27,241,510 (GRCm39) |
I83V |
possibly damaging |
Het |
Btbd17 |
A |
C |
11: 114,684,832 (GRCm39) |
V69G |
probably damaging |
Het |
Cacna1a |
T |
A |
8: 85,328,396 (GRCm39) |
Y1597* |
probably null |
Het |
Camk2a |
C |
A |
18: 61,088,696 (GRCm39) |
Q167K |
possibly damaging |
Het |
Capn1 |
A |
T |
19: 6,061,045 (GRCm39) |
N253K |
probably benign |
Het |
Ccer2 |
A |
G |
7: 28,455,928 (GRCm39) |
E40G |
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,972,130 (GRCm39) |
T527A |
probably damaging |
Het |
Cdkl2 |
T |
C |
5: 92,185,124 (GRCm39) |
D89G |
probably damaging |
Het |
Cep128 |
G |
T |
12: 91,263,027 (GRCm39) |
R291S |
probably damaging |
Het |
Cert1 |
T |
C |
13: 96,735,965 (GRCm39) |
V175A |
probably benign |
Het |
Chd4 |
A |
G |
6: 125,078,465 (GRCm39) |
M203V |
possibly damaging |
Het |
Chrna4 |
A |
G |
2: 180,679,286 (GRCm39) |
S54P |
probably damaging |
Het |
Cic |
TGTTGCCCTC |
T |
7: 24,990,099 (GRCm39) |
|
probably benign |
Het |
Cntn5 |
T |
A |
9: 10,144,214 (GRCm39) |
I152L |
possibly damaging |
Het |
Cntn6 |
A |
G |
6: 104,705,245 (GRCm39) |
E154G |
probably benign |
Het |
Cpvl |
C |
T |
6: 53,908,918 (GRCm39) |
E282K |
probably benign |
Het |
Cyth2 |
T |
C |
7: 45,460,143 (GRCm39) |
D183G |
probably damaging |
Het |
Ddx47 |
A |
T |
6: 134,989,319 (GRCm39) |
T48S |
possibly damaging |
Het |
Dgkk |
A |
G |
X: 6,794,751 (GRCm39) |
D685G |
probably benign |
Het |
Dis3l |
C |
T |
9: 64,238,080 (GRCm39) |
S29N |
unknown |
Het |
Dlg5 |
T |
C |
14: 24,187,249 (GRCm39) |
H1834R |
possibly damaging |
Het |
Dnah10 |
T |
C |
5: 124,905,536 (GRCm39) |
M4060T |
possibly damaging |
Het |
Dock3 |
T |
A |
9: 106,870,743 (GRCm39) |
N557I |
possibly damaging |
Het |
Dync2i1 |
T |
C |
12: 116,219,831 (GRCm39) |
E37G |
probably damaging |
Het |
Eprs1 |
A |
T |
1: 185,105,273 (GRCm39) |
|
probably benign |
Het |
Faim2 |
C |
A |
15: 99,422,581 (GRCm39) |
|
probably null |
Het |
Faim2 |
T |
G |
15: 99,422,582 (GRCm39) |
S72R |
probably benign |
Het |
Fanca |
T |
C |
8: 123,995,711 (GRCm39) |
T1364A |
probably damaging |
Het |
Fance |
T |
C |
17: 28,534,636 (GRCm39) |
|
probably benign |
Het |
Farsb |
A |
T |
1: 78,420,402 (GRCm39) |
H496Q |
possibly damaging |
Het |
Fryl |
C |
T |
5: 73,248,022 (GRCm39) |
E1032K |
possibly damaging |
Het |
Galnt14 |
A |
T |
17: 73,814,808 (GRCm39) |
|
probably benign |
Het |
Gba2 |
A |
T |
4: 43,568,619 (GRCm39) |
|
probably benign |
Het |
Gjb4 |
C |
A |
4: 127,245,571 (GRCm39) |
K123N |
probably damaging |
Het |
Gmcl1 |
G |
A |
6: 86,709,980 (GRCm39) |
T56I |
probably benign |
Het |
Gtf2ird1 |
T |
A |
5: 134,412,756 (GRCm39) |
E55V |
probably damaging |
Het |
Gtpbp2 |
T |
C |
17: 46,472,080 (GRCm39) |
V5A |
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,044,486 (GRCm39) |
|
probably benign |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Hsd3b3 |
T |
C |
3: 98,649,532 (GRCm39) |
S264G |
probably damaging |
Het |
Ints8 |
T |
C |
4: 11,227,152 (GRCm39) |
M574V |
probably benign |
Het |
Kif4-ps |
G |
A |
12: 101,115,477 (GRCm39) |
|
noncoding transcript |
Het |
Klhl14 |
A |
T |
18: 21,687,765 (GRCm39) |
N552K |
probably benign |
Het |
Klhl40 |
A |
G |
9: 121,609,799 (GRCm39) |
E528G |
probably damaging |
Het |
Lactb2 |
T |
C |
1: 13,717,624 (GRCm39) |
E133G |
probably damaging |
Het |
Lratd2 |
A |
T |
15: 60,695,478 (GRCm39) |
D89E |
probably benign |
Het |
Lrrtm2 |
T |
C |
18: 35,347,310 (GRCm39) |
|
probably null |
Het |
Mab21l2 |
T |
A |
3: 86,454,811 (GRCm39) |
Y63F |
probably benign |
Het |
Mbd1 |
T |
A |
18: 74,402,597 (GRCm39) |
I33N |
possibly damaging |
Het |
Mertk |
G |
A |
2: 128,643,132 (GRCm39) |
V844M |
probably benign |
Het |
Myh11 |
T |
C |
16: 14,044,448 (GRCm39) |
T652A |
possibly damaging |
Het |
Nlrp4a |
C |
A |
7: 26,148,943 (GRCm39) |
Y183* |
probably null |
Het |
Noa1 |
T |
A |
5: 77,447,600 (GRCm39) |
T558S |
probably benign |
Het |
Nol11 |
A |
T |
11: 107,071,826 (GRCm39) |
S256T |
possibly damaging |
Het |
Nr1d1 |
G |
T |
11: 98,662,086 (GRCm39) |
R183S |
possibly damaging |
Het |
Nrg2 |
G |
T |
18: 36,185,948 (GRCm39) |
Q264K |
possibly damaging |
Het |
Nsd3 |
T |
A |
8: 26,188,894 (GRCm39) |
F1027I |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 78,110,847 (GRCm39) |
I285F |
probably damaging |
Het |
Obox8 |
T |
C |
7: 14,066,771 (GRCm39) |
N91S |
possibly damaging |
Het |
Oga |
T |
C |
19: 45,760,384 (GRCm39) |
E258G |
probably benign |
Het |
Orc5 |
C |
T |
5: 22,751,520 (GRCm39) |
S63N |
probably benign |
Het |
Osbpl6 |
C |
T |
2: 76,398,552 (GRCm39) |
T412I |
probably benign |
Het |
P2ry14 |
C |
T |
3: 59,022,563 (GRCm39) |
C308Y |
probably damaging |
Het |
Pacsin1 |
T |
C |
17: 27,926,038 (GRCm39) |
F127L |
probably damaging |
Het |
Pex11b |
T |
C |
3: 96,551,151 (GRCm39) |
L198P |
possibly damaging |
Het |
Pla2g4e |
A |
T |
2: 120,001,669 (GRCm39) |
V660E |
probably damaging |
Het |
Plxna4 |
C |
A |
6: 32,493,885 (GRCm39) |
V244F |
possibly damaging |
Het |
Polr3b |
A |
G |
10: 84,550,233 (GRCm39) |
Y981C |
probably damaging |
Het |
Popdc2 |
T |
A |
16: 38,194,649 (GRCm39) |
S357T |
probably damaging |
Het |
Prr29 |
A |
G |
11: 106,267,159 (GRCm39) |
H58R |
probably damaging |
Het |
Pyy |
T |
A |
11: 101,998,178 (GRCm39) |
M1L |
possibly damaging |
Het |
Rasd2 |
T |
C |
8: 75,948,556 (GRCm39) |
S161P |
possibly damaging |
Het |
Ryr3 |
C |
T |
2: 112,826,900 (GRCm39) |
|
probably benign |
Het |
Sectm1a |
G |
A |
11: 120,960,552 (GRCm39) |
R88C |
possibly damaging |
Het |
Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
Siglecf |
A |
T |
7: 43,005,837 (GRCm39) |
I465F |
possibly damaging |
Het |
Sorl1 |
A |
T |
9: 41,915,347 (GRCm39) |
M1294K |
probably damaging |
Het |
Spam1 |
A |
T |
6: 24,796,661 (GRCm39) |
H204L |
probably benign |
Het |
Sspo |
A |
T |
6: 48,450,468 (GRCm39) |
N2586Y |
possibly damaging |
Het |
Tbc1d4 |
A |
G |
14: 101,700,263 (GRCm39) |
|
probably benign |
Het |
Tceanc2 |
A |
T |
4: 107,022,757 (GRCm39) |
S77T |
probably damaging |
Het |
Tedc2 |
A |
G |
17: 24,439,114 (GRCm39) |
|
probably benign |
Het |
Tgm6 |
A |
G |
2: 129,979,314 (GRCm39) |
D148G |
probably benign |
Het |
Tgm6 |
A |
T |
2: 129,983,128 (GRCm39) |
Q239L |
probably benign |
Het |
Thsd7a |
T |
A |
6: 12,337,313 (GRCm39) |
T1235S |
possibly damaging |
Het |
Thsd7a |
T |
A |
6: 12,504,012 (GRCm39) |
I381F |
possibly damaging |
Het |
Tmc4 |
T |
C |
7: 3,674,270 (GRCm39) |
|
probably null |
Het |
Tmem54 |
A |
T |
4: 129,004,704 (GRCm39) |
E186D |
possibly damaging |
Het |
Tpk1 |
A |
T |
6: 43,588,269 (GRCm39) |
F32I |
probably benign |
Het |
Trpc4ap |
A |
G |
2: 155,514,917 (GRCm39) |
I97T |
probably benign |
Het |
Tut7 |
G |
A |
13: 59,948,413 (GRCm39) |
T636I |
possibly damaging |
Het |
Txlnb |
A |
G |
10: 17,718,942 (GRCm39) |
E591G |
probably damaging |
Het |
Tyk2 |
C |
T |
9: 21,025,503 (GRCm39) |
A741T |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,133,829 (GRCm39) |
E742K |
possibly damaging |
Het |
Uckl1 |
A |
T |
2: 181,216,661 (GRCm39) |
S95T |
possibly damaging |
Het |
Uevld |
T |
A |
7: 46,587,734 (GRCm39) |
D322V |
probably damaging |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Vmn1r238 |
G |
T |
18: 3,123,300 (GRCm39) |
T38K |
probably damaging |
Het |
Vps8 |
T |
A |
16: 21,262,938 (GRCm39) |
|
probably null |
Het |
Wdr83 |
T |
C |
8: 85,806,680 (GRCm39) |
|
probably benign |
Het |
Zfp619 |
A |
G |
7: 39,183,559 (GRCm39) |
T51A |
probably benign |
Het |
|
Other mutations in Col16a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00501:Col16a1
|
APN |
4 |
129,988,345 (GRCm39) |
splice site |
probably null |
|
IGL00885:Col16a1
|
APN |
4 |
129,990,703 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01931:Col16a1
|
APN |
4 |
129,966,634 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02142:Col16a1
|
APN |
4 |
129,945,440 (GRCm39) |
splice site |
probably null |
|
IGL02307:Col16a1
|
APN |
4 |
129,952,802 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02731:Col16a1
|
APN |
4 |
129,947,323 (GRCm39) |
unclassified |
probably benign |
|
IGL02742:Col16a1
|
APN |
4 |
129,955,172 (GRCm39) |
unclassified |
probably benign |
|
PIT4520001:Col16a1
|
UTSW |
4 |
129,945,456 (GRCm39) |
missense |
unknown |
|
R0127:Col16a1
|
UTSW |
4 |
129,946,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Col16a1
|
UTSW |
4 |
129,960,889 (GRCm39) |
missense |
unknown |
|
R0131:Col16a1
|
UTSW |
4 |
129,960,889 (GRCm39) |
missense |
unknown |
|
R0132:Col16a1
|
UTSW |
4 |
129,960,889 (GRCm39) |
missense |
unknown |
|
R0299:Col16a1
|
UTSW |
4 |
129,952,111 (GRCm39) |
frame shift |
probably null |
|
R0355:Col16a1
|
UTSW |
4 |
129,952,206 (GRCm39) |
splice site |
probably benign |
|
R0395:Col16a1
|
UTSW |
4 |
129,966,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R0485:Col16a1
|
UTSW |
4 |
129,984,290 (GRCm39) |
splice site |
probably benign |
|
R0573:Col16a1
|
UTSW |
4 |
129,962,268 (GRCm39) |
splice site |
probably benign |
|
R1274:Col16a1
|
UTSW |
4 |
129,991,594 (GRCm39) |
missense |
probably damaging |
0.98 |
R1619:Col16a1
|
UTSW |
4 |
129,992,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R1759:Col16a1
|
UTSW |
4 |
129,978,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R1832:Col16a1
|
UTSW |
4 |
129,970,850 (GRCm39) |
splice site |
probably null |
|
R1861:Col16a1
|
UTSW |
4 |
129,955,517 (GRCm39) |
unclassified |
probably benign |
|
R1862:Col16a1
|
UTSW |
4 |
129,986,575 (GRCm39) |
critical splice donor site |
probably null |
|
R1981:Col16a1
|
UTSW |
4 |
129,959,236 (GRCm39) |
missense |
unknown |
|
R2265:Col16a1
|
UTSW |
4 |
129,946,711 (GRCm39) |
missense |
probably benign |
0.02 |
R2269:Col16a1
|
UTSW |
4 |
129,946,711 (GRCm39) |
missense |
probably benign |
0.02 |
R2291:Col16a1
|
UTSW |
4 |
129,960,833 (GRCm39) |
missense |
unknown |
|
R3176:Col16a1
|
UTSW |
4 |
129,951,792 (GRCm39) |
missense |
probably damaging |
0.99 |
R3276:Col16a1
|
UTSW |
4 |
129,951,792 (GRCm39) |
missense |
probably damaging |
0.99 |
R3552:Col16a1
|
UTSW |
4 |
129,970,834 (GRCm39) |
missense |
probably benign |
0.10 |
R4049:Col16a1
|
UTSW |
4 |
129,962,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R4241:Col16a1
|
UTSW |
4 |
129,992,843 (GRCm39) |
missense |
probably damaging |
0.98 |
R4327:Col16a1
|
UTSW |
4 |
129,988,344 (GRCm39) |
critical splice donor site |
probably null |
|
R4591:Col16a1
|
UTSW |
4 |
129,955,592 (GRCm39) |
splice site |
probably null |
|
R4803:Col16a1
|
UTSW |
4 |
129,948,901 (GRCm39) |
unclassified |
probably benign |
|
R4925:Col16a1
|
UTSW |
4 |
129,947,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R4961:Col16a1
|
UTSW |
4 |
129,948,272 (GRCm39) |
splice site |
probably null |
|
R5016:Col16a1
|
UTSW |
4 |
129,972,988 (GRCm39) |
missense |
probably benign |
0.31 |
R5027:Col16a1
|
UTSW |
4 |
129,972,988 (GRCm39) |
missense |
probably benign |
0.31 |
R5085:Col16a1
|
UTSW |
4 |
129,947,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R5088:Col16a1
|
UTSW |
4 |
129,972,988 (GRCm39) |
missense |
probably benign |
0.31 |
R5089:Col16a1
|
UTSW |
4 |
129,972,988 (GRCm39) |
missense |
probably benign |
0.31 |
R5408:Col16a1
|
UTSW |
4 |
129,986,898 (GRCm39) |
utr 3 prime |
probably benign |
|
R5472:Col16a1
|
UTSW |
4 |
129,986,564 (GRCm39) |
utr 3 prime |
probably benign |
|
R5564:Col16a1
|
UTSW |
4 |
129,947,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R5597:Col16a1
|
UTSW |
4 |
129,952,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R5703:Col16a1
|
UTSW |
4 |
129,947,092 (GRCm39) |
missense |
probably damaging |
0.96 |
R6054:Col16a1
|
UTSW |
4 |
129,955,515 (GRCm39) |
unclassified |
probably benign |
|
R6226:Col16a1
|
UTSW |
4 |
129,948,882 (GRCm39) |
unclassified |
probably benign |
|
R6362:Col16a1
|
UTSW |
4 |
129,959,983 (GRCm39) |
missense |
unknown |
|
R6448:Col16a1
|
UTSW |
4 |
129,952,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R6449:Col16a1
|
UTSW |
4 |
129,960,486 (GRCm39) |
missense |
unknown |
|
R6502:Col16a1
|
UTSW |
4 |
129,949,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R6949:Col16a1
|
UTSW |
4 |
129,953,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R6969:Col16a1
|
UTSW |
4 |
129,986,880 (GRCm39) |
utr 3 prime |
probably benign |
|
R7086:Col16a1
|
UTSW |
4 |
129,946,773 (GRCm39) |
splice site |
probably null |
|
R7375:Col16a1
|
UTSW |
4 |
129,959,294 (GRCm39) |
missense |
unknown |
|
R7703:Col16a1
|
UTSW |
4 |
129,990,295 (GRCm39) |
missense |
unknown |
|
R7808:Col16a1
|
UTSW |
4 |
129,967,057 (GRCm39) |
missense |
unknown |
|
R7904:Col16a1
|
UTSW |
4 |
129,948,001 (GRCm39) |
nonsense |
probably null |
|
R7936:Col16a1
|
UTSW |
4 |
129,990,664 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7981:Col16a1
|
UTSW |
4 |
129,980,347 (GRCm39) |
critical splice donor site |
probably null |
|
R8161:Col16a1
|
UTSW |
4 |
129,954,262 (GRCm39) |
missense |
unknown |
|
R8178:Col16a1
|
UTSW |
4 |
129,947,270 (GRCm39) |
missense |
unknown |
|
R8266:Col16a1
|
UTSW |
4 |
129,959,224 (GRCm39) |
missense |
unknown |
|
R8312:Col16a1
|
UTSW |
4 |
129,948,244 (GRCm39) |
missense |
unknown |
|
R8714:Col16a1
|
UTSW |
4 |
129,947,961 (GRCm39) |
missense |
unknown |
|
R9011:Col16a1
|
UTSW |
4 |
129,946,652 (GRCm39) |
missense |
unknown |
|
R9088:Col16a1
|
UTSW |
4 |
129,971,016 (GRCm39) |
missense |
unknown |
|
RF014:Col16a1
|
UTSW |
4 |
129,986,860 (GRCm39) |
critical splice acceptor site |
probably benign |
|
Z1176:Col16a1
|
UTSW |
4 |
129,966,671 (GRCm39) |
missense |
unknown |
|
|