Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
C |
9: 55,881,140 (GRCm39) |
E504G |
unknown |
Het |
Aak1 |
G |
A |
6: 86,941,185 (GRCm39) |
E660K |
unknown |
Het |
Abcc9 |
A |
G |
6: 142,633,013 (GRCm39) |
I243T |
possibly damaging |
Het |
Baiap3 |
A |
G |
17: 25,463,000 (GRCm39) |
S1013P |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,162,036 (GRCm39) |
D2295E |
probably benign |
Het |
Blm |
A |
G |
7: 80,113,598 (GRCm39) |
V1233A |
possibly damaging |
Het |
Brsk1 |
G |
T |
7: 4,695,700 (GRCm39) |
V62F |
probably damaging |
Het |
Cacna2d1 |
A |
G |
5: 16,570,458 (GRCm39) |
E1011G |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,474,191 (GRCm39) |
Y687C |
probably benign |
Het |
Cfap221 |
T |
C |
1: 119,883,421 (GRCm39) |
E250G |
possibly damaging |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Cps1 |
G |
T |
1: 67,268,682 (GRCm39) |
|
probably null |
Het |
Cyp4v3 |
A |
G |
8: 45,760,130 (GRCm39) |
V34A |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 65,846,192 (GRCm39) |
V2949M |
probably damaging |
Het |
Dst |
A |
C |
1: 34,295,404 (GRCm39) |
Q3454P |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,391,611 (GRCm39) |
L495P |
possibly damaging |
Het |
Flnb |
C |
A |
14: 7,892,189 (GRCm38) |
H619Q |
probably damaging |
Het |
Fst |
G |
C |
13: 114,595,043 (GRCm39) |
A27G |
probably benign |
Het |
Ggnbp2 |
C |
A |
11: 84,730,931 (GRCm39) |
R364L |
probably damaging |
Het |
Gins1 |
C |
T |
2: 150,758,148 (GRCm39) |
A78V |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,274,664 (GRCm39) |
L1495H |
possibly damaging |
Het |
Golgb1 |
C |
T |
16: 36,695,946 (GRCm39) |
|
probably benign |
Het |
Lin7a |
A |
G |
10: 107,216,167 (GRCm39) |
|
probably null |
Het |
Lrp6 |
A |
T |
6: 134,456,523 (GRCm39) |
C914S |
probably damaging |
Het |
Lrrc8e |
G |
A |
8: 4,286,034 (GRCm39) |
G753D |
probably damaging |
Het |
Mapk4 |
A |
G |
18: 74,063,882 (GRCm39) |
Y447H |
probably damaging |
Het |
Mbl1 |
A |
G |
14: 40,880,511 (GRCm39) |
N133S |
probably damaging |
Het |
Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nbea |
T |
C |
3: 55,989,869 (GRCm39) |
N329S |
possibly damaging |
Het |
Or13p10 |
A |
T |
4: 118,523,609 (GRCm39) |
K298N |
probably benign |
Het |
Or51k2 |
G |
A |
7: 103,596,531 (GRCm39) |
V253M |
probably damaging |
Het |
Or5b120 |
A |
T |
19: 13,480,177 (GRCm39) |
I157F |
probably damaging |
Het |
Or6k14 |
G |
A |
1: 173,927,405 (GRCm39) |
C127Y |
probably damaging |
Het |
Pik3c3 |
A |
G |
18: 30,449,954 (GRCm39) |
E589G |
probably benign |
Het |
Plb1 |
A |
T |
5: 32,490,808 (GRCm39) |
D1035V |
probably damaging |
Het |
Plekhg1 |
G |
T |
10: 3,907,373 (GRCm39) |
M763I |
probably benign |
Het |
Poc5 |
A |
G |
13: 96,531,003 (GRCm39) |
N67S |
probably benign |
Het |
Psmd13 |
T |
A |
7: 140,470,522 (GRCm39) |
W255R |
probably damaging |
Het |
Rbm27 |
A |
G |
18: 42,459,004 (GRCm39) |
Y735C |
probably damaging |
Het |
Rhpn2 |
A |
T |
7: 35,075,594 (GRCm39) |
N257I |
possibly damaging |
Het |
Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
Rp1 |
G |
A |
1: 4,420,119 (GRCm39) |
T331M |
probably damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,353,146 (GRCm39) |
V105A |
possibly damaging |
Het |
Slc9a9 |
T |
C |
9: 94,818,364 (GRCm39) |
S253P |
possibly damaging |
Het |
St8sia3 |
C |
T |
18: 64,398,452 (GRCm39) |
|
probably benign |
Het |
Strbp |
T |
C |
2: 37,493,975 (GRCm39) |
D366G |
probably null |
Het |
Tex15 |
T |
A |
8: 34,064,917 (GRCm39) |
I1449N |
possibly damaging |
Het |
Tmtc3 |
C |
T |
10: 100,307,339 (GRCm39) |
V222I |
probably benign |
Het |
Top3b |
T |
C |
16: 16,710,533 (GRCm39) |
S788P |
possibly damaging |
Het |
Tsc22d4 |
A |
G |
5: 137,756,785 (GRCm39) |
D71G |
probably benign |
Het |
Tubgcp4 |
T |
A |
2: 121,020,329 (GRCm39) |
V434E |
probably benign |
Het |
Ufsp1 |
A |
G |
5: 137,293,158 (GRCm39) |
Y36C |
possibly damaging |
Het |
Unc79 |
T |
A |
12: 103,091,962 (GRCm39) |
H1956Q |
possibly damaging |
Het |
Usp34 |
A |
T |
11: 23,389,011 (GRCm39) |
N2217I |
probably damaging |
Het |
Vmn2r112 |
A |
T |
17: 22,822,462 (GRCm39) |
D380V |
possibly damaging |
Het |
Vmn2r13 |
A |
G |
5: 109,322,938 (GRCm39) |
I117T |
probably benign |
Het |
Vmn2r53 |
A |
G |
7: 12,315,633 (GRCm39) |
Y729H |
probably damaging |
Het |
Wnt3a |
A |
T |
11: 59,140,587 (GRCm39) |
L310M |
probably damaging |
Het |
Zc3h7a |
T |
C |
16: 10,976,831 (GRCm39) |
Q155R |
possibly damaging |
Het |
|
Other mutations in Tbx5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01096:Tbx5
|
APN |
5 |
120,021,091 (GRCm39) |
missense |
probably benign |
|
IGL01595:Tbx5
|
APN |
5 |
119,978,903 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01758:Tbx5
|
APN |
5 |
119,983,023 (GRCm39) |
unclassified |
probably benign |
|
IGL02239:Tbx5
|
APN |
5 |
120,009,345 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02625:Tbx5
|
APN |
5 |
119,974,972 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL03326:Tbx5
|
APN |
5 |
120,009,363 (GRCm39) |
missense |
probably damaging |
0.99 |
R0477:Tbx5
|
UTSW |
5 |
120,021,184 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0485:Tbx5
|
UTSW |
5 |
120,021,523 (GRCm39) |
missense |
probably benign |
0.00 |
R1218:Tbx5
|
UTSW |
5 |
119,976,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R1756:Tbx5
|
UTSW |
5 |
119,983,178 (GRCm39) |
splice site |
probably null |
|
R2011:Tbx5
|
UTSW |
5 |
119,979,971 (GRCm39) |
splice site |
probably null |
|
R2125:Tbx5
|
UTSW |
5 |
119,974,988 (GRCm39) |
missense |
probably benign |
|
R2126:Tbx5
|
UTSW |
5 |
119,974,988 (GRCm39) |
missense |
probably benign |
|
R2268:Tbx5
|
UTSW |
5 |
119,983,174 (GRCm39) |
splice site |
probably null |
|
R2302:Tbx5
|
UTSW |
5 |
119,979,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R4693:Tbx5
|
UTSW |
5 |
119,979,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R4930:Tbx5
|
UTSW |
5 |
120,021,090 (GRCm39) |
missense |
probably benign |
0.44 |
R5062:Tbx5
|
UTSW |
5 |
119,974,987 (GRCm39) |
missense |
probably damaging |
0.99 |
R5245:Tbx5
|
UTSW |
5 |
120,021,230 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6067:Tbx5
|
UTSW |
5 |
120,021,211 (GRCm39) |
missense |
probably benign |
|
R6079:Tbx5
|
UTSW |
5 |
120,021,211 (GRCm39) |
missense |
probably benign |
|
R6138:Tbx5
|
UTSW |
5 |
120,021,211 (GRCm39) |
missense |
probably benign |
|
R6218:Tbx5
|
UTSW |
5 |
119,991,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R6528:Tbx5
|
UTSW |
5 |
120,021,176 (GRCm39) |
missense |
probably damaging |
0.97 |
R6993:Tbx5
|
UTSW |
5 |
120,009,454 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7777:Tbx5
|
UTSW |
5 |
120,021,232 (GRCm39) |
missense |
probably benign |
0.00 |
R7801:Tbx5
|
UTSW |
5 |
119,975,064 (GRCm39) |
missense |
probably benign |
0.44 |
R8056:Tbx5
|
UTSW |
5 |
119,991,678 (GRCm39) |
missense |
probably benign |
|
R8772:Tbx5
|
UTSW |
5 |
119,976,790 (GRCm39) |
missense |
probably benign |
0.02 |
R9706:Tbx5
|
UTSW |
5 |
119,979,909 (GRCm39) |
missense |
probably benign |
0.42 |
U15987:Tbx5
|
UTSW |
5 |
120,021,211 (GRCm39) |
missense |
probably benign |
|
X0028:Tbx5
|
UTSW |
5 |
119,983,184 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Tbx5
|
UTSW |
5 |
120,021,380 (GRCm39) |
missense |
probably benign |
0.03 |
|