Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,242,750 (GRCm39) |
S1326P |
probably damaging |
Het |
Alpk1 |
A |
T |
3: 127,466,970 (GRCm39) |
L1103Q |
probably damaging |
Het |
Arhgap11a |
A |
C |
2: 113,667,906 (GRCm39) |
|
probably benign |
Het |
Arl6ip6 |
A |
G |
2: 53,082,226 (GRCm39) |
Y31C |
possibly damaging |
Het |
Arpin |
G |
T |
7: 79,577,395 (GRCm39) |
D217E |
possibly damaging |
Het |
Atp13a4 |
C |
T |
16: 29,241,521 (GRCm39) |
V735I |
probably benign |
Het |
Ccdc146 |
A |
T |
5: 21,502,631 (GRCm39) |
F753L |
probably benign |
Het |
Cdh3 |
T |
A |
8: 107,270,880 (GRCm39) |
L511* |
probably null |
Het |
Chrna1 |
A |
T |
2: 73,397,206 (GRCm39) |
I361N |
possibly damaging |
Het |
Clk2 |
G |
A |
3: 89,083,020 (GRCm39) |
R432H |
probably damaging |
Het |
Col9a1 |
T |
C |
1: 24,261,018 (GRCm39) |
|
probably benign |
Het |
Cstf1 |
G |
T |
2: 172,219,774 (GRCm39) |
R295L |
probably benign |
Het |
Dsg4 |
T |
A |
18: 20,595,577 (GRCm39) |
H593Q |
probably benign |
Het |
Dysf |
T |
C |
6: 84,107,109 (GRCm39) |
Y1171H |
possibly damaging |
Het |
Erbb4 |
A |
G |
1: 68,345,023 (GRCm39) |
L566P |
probably benign |
Het |
Fam185a |
T |
A |
5: 21,660,829 (GRCm39) |
D281E |
probably damaging |
Het |
Fam185a |
T |
A |
5: 21,634,839 (GRCm39) |
|
probably benign |
Het |
Fam91a1 |
T |
A |
15: 58,304,831 (GRCm39) |
|
probably null |
Het |
Fat2 |
A |
G |
11: 55,202,109 (GRCm39) |
W322R |
probably damaging |
Het |
Fbxw8 |
T |
A |
5: 118,204,125 (GRCm39) |
|
probably benign |
Het |
Ganc |
A |
G |
2: 120,288,615 (GRCm39) |
T874A |
probably benign |
Het |
Gm3543 |
T |
C |
14: 41,802,048 (GRCm39) |
I145M |
probably benign |
Het |
Gtf2i |
G |
A |
5: 134,274,015 (GRCm39) |
T712I |
probably damaging |
Het |
Hk1 |
A |
G |
10: 62,131,552 (GRCm39) |
S268P |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
Hsd17b4 |
C |
T |
18: 50,295,164 (GRCm39) |
|
probably benign |
Het |
Ighv1-75 |
A |
T |
12: 115,797,725 (GRCm39) |
W66R |
probably damaging |
Het |
Kif21b |
G |
T |
1: 136,081,859 (GRCm39) |
D636Y |
probably damaging |
Het |
Kif5b |
A |
T |
18: 6,220,914 (GRCm39) |
I398N |
probably benign |
Het |
Metap2 |
T |
C |
10: 93,701,311 (GRCm39) |
M165V |
probably damaging |
Het |
Mterf2 |
A |
C |
10: 84,956,331 (GRCm39) |
L98V |
probably damaging |
Het |
Muc16 |
A |
G |
9: 18,409,849 (GRCm39) |
|
probably null |
Het |
Myo3b |
A |
G |
2: 69,925,568 (GRCm39) |
M12V |
probably benign |
Het |
Nat10 |
C |
A |
2: 103,583,013 (GRCm39) |
R136I |
probably damaging |
Het |
Nsd2 |
T |
G |
5: 34,003,542 (GRCm39) |
S231A |
probably damaging |
Het |
Or4a71 |
T |
C |
2: 89,358,275 (GRCm39) |
T160A |
probably benign |
Het |
Or4k37 |
A |
T |
2: 111,159,333 (GRCm39) |
M190L |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,581,071 (GRCm39) |
L59* |
probably null |
Het |
Pias4 |
A |
G |
10: 80,999,621 (GRCm39) |
L144P |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,433,746 (GRCm39) |
N598K |
probably benign |
Het |
Polq |
A |
G |
16: 36,862,130 (GRCm39) |
Y550C |
probably damaging |
Het |
Pot1b |
T |
A |
17: 56,002,024 (GRCm39) |
|
probably benign |
Het |
Proz |
T |
C |
8: 13,115,260 (GRCm39) |
V92A |
probably benign |
Het |
Rab4a |
T |
C |
8: 124,550,561 (GRCm39) |
F14L |
probably benign |
Het |
Riok3 |
T |
A |
18: 12,276,073 (GRCm39) |
C256* |
probably null |
Het |
Slc6a1 |
T |
A |
6: 114,279,451 (GRCm39) |
|
probably benign |
Het |
Socs5 |
C |
T |
17: 87,442,419 (GRCm39) |
T453M |
probably damaging |
Het |
Spata3 |
T |
C |
1: 85,952,211 (GRCm39) |
L135P |
probably damaging |
Het |
Spata46 |
A |
G |
1: 170,139,534 (GRCm39) |
K178E |
probably damaging |
Het |
Spr |
T |
C |
6: 85,114,430 (GRCm39) |
N100D |
probably damaging |
Het |
Srrm4 |
C |
T |
5: 116,582,624 (GRCm39) |
|
probably benign |
Het |
Stard3 |
T |
C |
11: 98,267,389 (GRCm39) |
F169S |
possibly damaging |
Het |
Tbx1 |
T |
A |
16: 18,402,847 (GRCm39) |
D222V |
probably damaging |
Het |
Trbv23 |
C |
T |
6: 41,193,279 (GRCm39) |
Q56* |
probably null |
Het |
Tsc22d1 |
A |
G |
14: 76,654,838 (GRCm39) |
N357S |
possibly damaging |
Het |
Ugt1a6a |
C |
T |
1: 88,066,811 (GRCm39) |
P206S |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,600,657 (GRCm39) |
V19A |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,646,447 (GRCm39) |
N1517S |
probably benign |
Het |
Washc2 |
T |
C |
6: 116,218,571 (GRCm39) |
I672T |
probably damaging |
Het |
|
Other mutations in Dsg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00425:Dsg2
|
APN |
18 |
20,734,826 (GRCm39) |
missense |
probably benign |
0.10 |
IGL00979:Dsg2
|
APN |
18 |
20,715,824 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01081:Dsg2
|
APN |
18 |
20,722,999 (GRCm39) |
unclassified |
probably benign |
|
IGL01358:Dsg2
|
APN |
18 |
20,734,850 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02002:Dsg2
|
APN |
18 |
20,712,233 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02263:Dsg2
|
APN |
18 |
20,723,077 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02410:Dsg2
|
APN |
18 |
20,735,189 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03036:Dsg2
|
APN |
18 |
20,712,134 (GRCm39) |
missense |
probably damaging |
0.99 |
dissolute
|
UTSW |
18 |
20,729,008 (GRCm39) |
splice site |
probably null |
|
Dysjunction
|
UTSW |
18 |
20,715,996 (GRCm39) |
nonsense |
probably null |
|
weg
|
UTSW |
18 |
20,713,708 (GRCm39) |
nonsense |
probably null |
|
R0094:Dsg2
|
UTSW |
18 |
20,724,910 (GRCm39) |
missense |
probably benign |
0.08 |
R0094:Dsg2
|
UTSW |
18 |
20,724,910 (GRCm39) |
missense |
probably benign |
0.08 |
R0105:Dsg2
|
UTSW |
18 |
20,735,111 (GRCm39) |
missense |
probably benign |
0.03 |
R0105:Dsg2
|
UTSW |
18 |
20,735,111 (GRCm39) |
missense |
probably benign |
0.03 |
R0112:Dsg2
|
UTSW |
18 |
20,716,099 (GRCm39) |
missense |
probably benign |
0.02 |
R0305:Dsg2
|
UTSW |
18 |
20,715,752 (GRCm39) |
splice site |
probably benign |
|
R0380:Dsg2
|
UTSW |
18 |
20,715,996 (GRCm39) |
nonsense |
probably null |
|
R0401:Dsg2
|
UTSW |
18 |
20,725,565 (GRCm39) |
splice site |
probably benign |
|
R0421:Dsg2
|
UTSW |
18 |
20,712,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R0578:Dsg2
|
UTSW |
18 |
20,727,291 (GRCm39) |
missense |
probably benign |
0.00 |
R0667:Dsg2
|
UTSW |
18 |
20,706,556 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1223:Dsg2
|
UTSW |
18 |
20,706,550 (GRCm39) |
missense |
probably benign |
0.23 |
R1433:Dsg2
|
UTSW |
18 |
20,715,780 (GRCm39) |
missense |
probably damaging |
0.98 |
R1543:Dsg2
|
UTSW |
18 |
20,727,268 (GRCm39) |
missense |
probably benign |
0.33 |
R1730:Dsg2
|
UTSW |
18 |
20,724,937 (GRCm39) |
missense |
probably benign |
0.01 |
R1783:Dsg2
|
UTSW |
18 |
20,724,937 (GRCm39) |
missense |
probably benign |
0.01 |
R1946:Dsg2
|
UTSW |
18 |
20,713,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R1991:Dsg2
|
UTSW |
18 |
20,734,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Dsg2
|
UTSW |
18 |
20,734,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R2027:Dsg2
|
UTSW |
18 |
20,716,061 (GRCm39) |
unclassified |
probably benign |
|
R2109:Dsg2
|
UTSW |
18 |
20,725,346 (GRCm39) |
missense |
probably benign |
0.00 |
R2143:Dsg2
|
UTSW |
18 |
20,712,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R2201:Dsg2
|
UTSW |
18 |
20,729,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R2343:Dsg2
|
UTSW |
18 |
20,735,355 (GRCm39) |
missense |
probably damaging |
0.99 |
R2937:Dsg2
|
UTSW |
18 |
20,712,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R3710:Dsg2
|
UTSW |
18 |
20,735,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R3734:Dsg2
|
UTSW |
18 |
20,735,004 (GRCm39) |
missense |
probably benign |
0.41 |
R3773:Dsg2
|
UTSW |
18 |
20,724,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R4176:Dsg2
|
UTSW |
18 |
20,713,720 (GRCm39) |
missense |
probably benign |
0.25 |
R4213:Dsg2
|
UTSW |
18 |
20,731,571 (GRCm39) |
missense |
probably benign |
0.01 |
R4299:Dsg2
|
UTSW |
18 |
20,729,008 (GRCm39) |
splice site |
probably null |
|
R4515:Dsg2
|
UTSW |
18 |
20,734,444 (GRCm39) |
missense |
probably benign |
|
R4649:Dsg2
|
UTSW |
18 |
20,735,302 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4940:Dsg2
|
UTSW |
18 |
20,712,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R4949:Dsg2
|
UTSW |
18 |
20,723,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R4998:Dsg2
|
UTSW |
18 |
20,734,578 (GRCm39) |
missense |
probably benign |
0.26 |
R5078:Dsg2
|
UTSW |
18 |
20,729,140 (GRCm39) |
critical splice donor site |
probably null |
|
R5155:Dsg2
|
UTSW |
18 |
20,731,715 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5398:Dsg2
|
UTSW |
18 |
20,712,190 (GRCm39) |
missense |
probably benign |
0.45 |
R5503:Dsg2
|
UTSW |
18 |
20,713,708 (GRCm39) |
nonsense |
probably null |
|
R6133:Dsg2
|
UTSW |
18 |
20,723,146 (GRCm39) |
missense |
probably benign |
0.00 |
R6163:Dsg2
|
UTSW |
18 |
20,731,726 (GRCm39) |
critical splice donor site |
probably null |
|
R6226:Dsg2
|
UTSW |
18 |
20,712,506 (GRCm39) |
missense |
probably damaging |
0.98 |
R6228:Dsg2
|
UTSW |
18 |
20,727,350 (GRCm39) |
critical splice donor site |
probably null |
|
R6241:Dsg2
|
UTSW |
18 |
20,723,274 (GRCm39) |
splice site |
probably null |
|
R6482:Dsg2
|
UTSW |
18 |
20,734,371 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6524:Dsg2
|
UTSW |
18 |
20,716,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R6856:Dsg2
|
UTSW |
18 |
20,734,859 (GRCm39) |
missense |
probably damaging |
0.98 |
R7058:Dsg2
|
UTSW |
18 |
20,725,332 (GRCm39) |
missense |
probably benign |
0.00 |
R7108:Dsg2
|
UTSW |
18 |
20,734,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R7149:Dsg2
|
UTSW |
18 |
20,712,511 (GRCm39) |
missense |
probably damaging |
0.98 |
R7207:Dsg2
|
UTSW |
18 |
20,734,516 (GRCm39) |
missense |
probably damaging |
0.99 |
R7256:Dsg2
|
UTSW |
18 |
20,724,988 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7315:Dsg2
|
UTSW |
18 |
20,712,217 (GRCm39) |
missense |
probably damaging |
0.97 |
R7471:Dsg2
|
UTSW |
18 |
20,713,675 (GRCm39) |
missense |
probably benign |
0.08 |
R7558:Dsg2
|
UTSW |
18 |
20,727,291 (GRCm39) |
missense |
probably benign |
0.00 |
R8094:Dsg2
|
UTSW |
18 |
20,716,061 (GRCm39) |
unclassified |
probably benign |
|
R8118:Dsg2
|
UTSW |
18 |
20,715,858 (GRCm39) |
missense |
probably benign |
0.11 |
R8157:Dsg2
|
UTSW |
18 |
20,713,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R8307:Dsg2
|
UTSW |
18 |
20,708,121 (GRCm39) |
missense |
probably benign |
0.19 |
R8308:Dsg2
|
UTSW |
18 |
20,708,121 (GRCm39) |
missense |
probably benign |
0.19 |
R8488:Dsg2
|
UTSW |
18 |
20,734,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R8520:Dsg2
|
UTSW |
18 |
20,712,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R8669:Dsg2
|
UTSW |
18 |
20,723,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R8675:Dsg2
|
UTSW |
18 |
20,734,975 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8750:Dsg2
|
UTSW |
18 |
20,708,069 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8773:Dsg2
|
UTSW |
18 |
20,716,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R8888:Dsg2
|
UTSW |
18 |
20,723,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R8895:Dsg2
|
UTSW |
18 |
20,723,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R8912:Dsg2
|
UTSW |
18 |
20,715,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R8925:Dsg2
|
UTSW |
18 |
20,725,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R8927:Dsg2
|
UTSW |
18 |
20,725,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R9263:Dsg2
|
UTSW |
18 |
20,727,223 (GRCm39) |
missense |
probably benign |
0.33 |
R9328:Dsg2
|
UTSW |
18 |
20,715,847 (GRCm39) |
missense |
possibly damaging |
0.81 |
Z1176:Dsg2
|
UTSW |
18 |
20,713,678 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Dsg2
|
UTSW |
18 |
20,735,306 (GRCm39) |
nonsense |
probably null |
|
|