Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh5a1 |
T |
G |
13: 25,102,533 (GRCm39) |
D310A |
probably benign |
Het |
Als2cl |
T |
A |
9: 110,724,514 (GRCm39) |
|
probably null |
Het |
Amacr |
C |
A |
15: 10,984,891 (GRCm39) |
R170S |
probably damaging |
Het |
Brwd1 |
C |
T |
16: 95,803,507 (GRCm39) |
R2221Q |
probably damaging |
Het |
Cacna1g |
A |
T |
11: 94,330,533 (GRCm39) |
|
probably null |
Het |
Cd3d |
G |
A |
9: 44,897,589 (GRCm39) |
D157N |
probably damaging |
Het |
Cep131 |
T |
C |
11: 119,955,516 (GRCm39) |
D1043G |
probably damaging |
Het |
Cimip1 |
T |
G |
2: 173,369,967 (GRCm39) |
|
probably null |
Het |
Cit |
A |
G |
5: 116,024,735 (GRCm39) |
D326G |
probably benign |
Het |
Col16a1 |
G |
C |
4: 129,959,983 (GRCm39) |
G370R |
unknown |
Het |
Col6a3 |
T |
A |
1: 90,738,285 (GRCm39) |
Y1078F |
probably damaging |
Het |
Colgalt2 |
A |
C |
1: 152,347,549 (GRCm39) |
Y161S |
probably damaging |
Het |
Cyp2j13 |
A |
G |
4: 95,959,932 (GRCm39) |
Y75H |
probably damaging |
Het |
Daxx |
G |
A |
17: 34,130,338 (GRCm39) |
V118I |
probably damaging |
Het |
Dennd5a |
G |
T |
7: 109,533,472 (GRCm39) |
C75* |
probably null |
Het |
Diaph3 |
A |
G |
14: 87,009,566 (GRCm39) |
L1071P |
probably damaging |
Het |
Disp3 |
A |
G |
4: 148,338,765 (GRCm39) |
L802P |
possibly damaging |
Het |
Dmc1 |
A |
G |
15: 79,473,024 (GRCm39) |
V141A |
probably benign |
Het |
Dsc2 |
A |
T |
18: 20,168,520 (GRCm39) |
Y45* |
probably null |
Het |
Dspp |
A |
G |
5: 104,323,900 (GRCm39) |
I348V |
probably benign |
Het |
Epb42 |
C |
A |
2: 120,856,260 (GRCm39) |
C428F |
possibly damaging |
Het |
Fam227a |
G |
T |
15: 79,527,551 (GRCm39) |
P100Q |
possibly damaging |
Het |
Fer1l4 |
C |
T |
2: 155,890,170 (GRCm39) |
V252I |
probably benign |
Het |
Fhod1 |
C |
A |
8: 106,058,273 (GRCm39) |
|
probably null |
Het |
Fhod3 |
G |
T |
18: 24,887,312 (GRCm39) |
A68S |
probably benign |
Het |
Gatm |
T |
C |
2: 122,428,677 (GRCm39) |
D328G |
probably benign |
Het |
Gm6401 |
G |
T |
14: 41,789,727 (GRCm39) |
H44N |
probably benign |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Gpr84 |
G |
A |
15: 103,216,937 (GRCm39) |
A380V |
probably damaging |
Het |
Herc1 |
G |
T |
9: 66,379,190 (GRCm39) |
W3492L |
probably damaging |
Het |
Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
Jag2 |
T |
A |
12: 112,883,742 (GRCm39) |
K246N |
probably damaging |
Het |
Klhl32 |
T |
C |
4: 24,629,195 (GRCm39) |
D524G |
probably null |
Het |
Lax1 |
A |
G |
1: 133,608,334 (GRCm39) |
S136P |
possibly damaging |
Het |
Lefty1 |
A |
G |
1: 180,764,725 (GRCm39) |
K217E |
probably benign |
Het |
Lgr5 |
A |
G |
10: 115,314,430 (GRCm39) |
L169P |
probably damaging |
Het |
Lrrc37 |
G |
C |
11: 103,511,478 (GRCm39) |
N163K |
unknown |
Het |
Mad1l1 |
A |
T |
5: 140,300,810 (GRCm39) |
S29T |
possibly damaging |
Het |
Man1a |
T |
C |
10: 53,950,891 (GRCm39) |
H77R |
probably benign |
Het |
Met |
C |
T |
6: 17,558,732 (GRCm39) |
S1120F |
probably damaging |
Het |
Mfsd4b2 |
A |
T |
10: 39,797,605 (GRCm39) |
I250N |
probably damaging |
Het |
Myod1 |
A |
G |
7: 46,026,305 (GRCm39) |
H70R |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,102,704 (GRCm39) |
N4280S |
probably benign |
Het |
Nudt6 |
T |
C |
3: 37,473,638 (GRCm39) |
T28A |
possibly damaging |
Het |
Nup85 |
A |
G |
11: 115,474,560 (GRCm39) |
E628G |
probably damaging |
Het |
Oaz3 |
A |
T |
3: 94,342,295 (GRCm39) |
D120E |
probably damaging |
Het |
Or2y3 |
A |
T |
17: 38,393,620 (GRCm39) |
M83K |
probably damaging |
Het |
Or5b102 |
A |
T |
19: 13,040,709 (GRCm39) |
|
probably benign |
Het |
Or5be3 |
C |
T |
2: 86,863,633 (GRCm39) |
A311T |
probably benign |
Het |
Or5m8 |
C |
A |
2: 85,822,285 (GRCm39) |
N41K |
probably damaging |
Het |
Or6c1b |
A |
C |
10: 129,272,812 (GRCm39) |
I44L |
probably damaging |
Het |
Osbpl8 |
A |
T |
10: 111,108,929 (GRCm39) |
K404* |
probably null |
Het |
Pcdhga2 |
A |
G |
18: 37,803,958 (GRCm39) |
N601D |
probably damaging |
Het |
Pld2 |
T |
C |
11: 70,445,501 (GRCm39) |
Y638H |
probably damaging |
Het |
Pramel27 |
A |
G |
4: 143,579,435 (GRCm39) |
Y340C |
probably damaging |
Het |
Prickle2 |
C |
G |
6: 92,435,596 (GRCm39) |
V2L |
possibly damaging |
Het |
Psmd6 |
G |
A |
14: 14,116,949 (GRCm38) |
R125C |
probably benign |
Het |
Rnaset2b |
G |
A |
17: 7,259,093 (GRCm39) |
V24I |
probably benign |
Het |
Rusc2 |
A |
T |
4: 43,416,416 (GRCm39) |
D574V |
probably benign |
Het |
Scn8a |
T |
A |
15: 100,837,996 (GRCm39) |
|
probably null |
Het |
Sec11a |
T |
C |
7: 80,572,879 (GRCm39) |
E134G |
probably benign |
Het |
Senp5 |
A |
G |
16: 31,808,702 (GRCm39) |
V157A |
probably damaging |
Het |
Slc43a1 |
T |
C |
2: 84,690,128 (GRCm39) |
L435P |
probably damaging |
Het |
Spn |
G |
A |
7: 126,735,895 (GRCm39) |
P204L |
possibly damaging |
Het |
Srr |
T |
A |
11: 74,801,028 (GRCm39) |
Q173L |
probably damaging |
Het |
Star |
C |
G |
8: 26,301,835 (GRCm39) |
T222S |
probably benign |
Het |
Timm22 |
T |
A |
11: 76,301,953 (GRCm39) |
Y93N |
probably damaging |
Het |
Tmc4 |
G |
T |
7: 3,678,458 (GRCm39) |
Q58K |
probably benign |
Het |
Tmem86b |
C |
T |
7: 4,632,835 (GRCm39) |
M1I |
probably null |
Het |
Tmtc2 |
A |
T |
10: 105,205,831 (GRCm39) |
I488N |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,913,362 (GRCm39) |
Y1792F |
probably damaging |
Het |
Tph1 |
T |
A |
7: 46,296,867 (GRCm39) |
R443W |
possibly damaging |
Het |
Ttyh1 |
T |
A |
7: 4,132,323 (GRCm39) |
V253E |
possibly damaging |
Het |
Usf3 |
A |
G |
16: 44,038,940 (GRCm39) |
D1140G |
probably benign |
Het |
Usp10 |
T |
C |
8: 120,668,055 (GRCm39) |
S118P |
probably benign |
Het |
Vmn2r63 |
C |
T |
7: 42,552,721 (GRCm39) |
C845Y |
probably benign |
Het |
Vmn2r72 |
G |
T |
7: 85,400,382 (GRCm39) |
F222L |
probably damaging |
Het |
Zfp654 |
G |
A |
16: 64,606,457 (GRCm39) |
Q582* |
probably null |
Het |
Zfp791 |
C |
T |
8: 85,846,279 (GRCm39) |
|
probably benign |
Het |
Zfp879 |
T |
A |
11: 50,729,302 (GRCm39) |
D32V |
probably damaging |
Het |
|
Other mutations in Shkbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01327:Shkbp1
|
APN |
7 |
27,054,676 (GRCm39) |
missense |
probably benign |
0.28 |
IGL01469:Shkbp1
|
APN |
7 |
27,055,366 (GRCm39) |
missense |
probably benign |
|
IGL01787:Shkbp1
|
APN |
7 |
27,041,875 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02149:Shkbp1
|
APN |
7 |
27,042,064 (GRCm39) |
unclassified |
probably benign |
|
IGL02902:Shkbp1
|
APN |
7 |
27,042,141 (GRCm39) |
missense |
probably damaging |
0.97 |
R0086:Shkbp1
|
UTSW |
7 |
27,051,451 (GRCm39) |
missense |
probably benign |
0.00 |
R0219:Shkbp1
|
UTSW |
7 |
27,051,486 (GRCm39) |
missense |
probably benign |
0.01 |
R0485:Shkbp1
|
UTSW |
7 |
27,048,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R1036:Shkbp1
|
UTSW |
7 |
27,044,721 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1468:Shkbp1
|
UTSW |
7 |
27,044,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Shkbp1
|
UTSW |
7 |
27,044,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R1608:Shkbp1
|
UTSW |
7 |
27,054,204 (GRCm39) |
missense |
probably benign |
0.01 |
R1757:Shkbp1
|
UTSW |
7 |
27,041,776 (GRCm39) |
missense |
probably benign |
|
R1968:Shkbp1
|
UTSW |
7 |
27,054,825 (GRCm39) |
critical splice donor site |
probably null |
|
R2763:Shkbp1
|
UTSW |
7 |
27,046,454 (GRCm39) |
missense |
probably benign |
0.05 |
R3027:Shkbp1
|
UTSW |
7 |
27,042,818 (GRCm39) |
missense |
probably benign |
0.18 |
R3924:Shkbp1
|
UTSW |
7 |
27,041,827 (GRCm39) |
missense |
probably benign |
|
R4425:Shkbp1
|
UTSW |
7 |
27,042,727 (GRCm39) |
missense |
probably benign |
0.38 |
R5048:Shkbp1
|
UTSW |
7 |
27,051,521 (GRCm39) |
unclassified |
probably benign |
|
R5862:Shkbp1
|
UTSW |
7 |
27,042,829 (GRCm39) |
nonsense |
probably null |
|
R5955:Shkbp1
|
UTSW |
7 |
27,041,949 (GRCm39) |
missense |
probably benign |
|
R6016:Shkbp1
|
UTSW |
7 |
27,053,826 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6226:Shkbp1
|
UTSW |
7 |
27,051,405 (GRCm39) |
missense |
probably null |
1.00 |
R6382:Shkbp1
|
UTSW |
7 |
27,051,484 (GRCm39) |
nonsense |
probably null |
|
R6460:Shkbp1
|
UTSW |
7 |
27,049,963 (GRCm39) |
missense |
probably benign |
0.01 |
R6647:Shkbp1
|
UTSW |
7 |
27,041,800 (GRCm39) |
missense |
probably benign |
|
R7025:Shkbp1
|
UTSW |
7 |
27,054,706 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7255:Shkbp1
|
UTSW |
7 |
27,042,173 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7522:Shkbp1
|
UTSW |
7 |
27,046,583 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7571:Shkbp1
|
UTSW |
7 |
27,046,556 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8207:Shkbp1
|
UTSW |
7 |
27,052,109 (GRCm39) |
missense |
probably benign |
0.01 |
R8770:Shkbp1
|
UTSW |
7 |
27,051,311 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8996:Shkbp1
|
UTSW |
7 |
27,042,844 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9361:Shkbp1
|
UTSW |
7 |
27,051,492 (GRCm39) |
missense |
probably benign |
0.00 |
R9758:Shkbp1
|
UTSW |
7 |
27,046,442 (GRCm39) |
missense |
probably benign |
0.22 |
Z1177:Shkbp1
|
UTSW |
7 |
27,046,426 (GRCm39) |
critical splice donor site |
probably null |
|
|