Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930553M12Rik |
A |
G |
4: 88,786,202 (GRCm39) |
Y139H |
unknown |
Het |
Akr1b10 |
T |
C |
6: 34,371,027 (GRCm39) |
V259A |
probably benign |
Het |
Aldh5a1 |
A |
T |
13: 25,095,673 (GRCm39) |
N481K |
probably damaging |
Het |
Ankrd26 |
A |
T |
6: 118,504,725 (GRCm39) |
M728K |
possibly damaging |
Het |
Asic1 |
A |
G |
15: 99,590,405 (GRCm39) |
M52V |
probably benign |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Cacna2d2 |
C |
A |
9: 107,392,689 (GRCm39) |
Y544* |
probably null |
Het |
Cdcp3 |
A |
G |
7: 130,852,218 (GRCm39) |
D818G |
possibly damaging |
Het |
Chd4 |
A |
G |
6: 125,097,688 (GRCm39) |
N1403S |
probably damaging |
Het |
Cldn4 |
G |
T |
5: 134,975,174 (GRCm39) |
N142K |
probably benign |
Het |
Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
Dll1 |
T |
C |
17: 15,593,710 (GRCm39) |
Y219C |
probably damaging |
Het |
Dnah2 |
T |
A |
11: 69,326,990 (GRCm39) |
I3539F |
probably damaging |
Het |
Egfr |
T |
A |
11: 16,825,067 (GRCm39) |
L469* |
probably null |
Het |
Elmo1 |
A |
G |
13: 20,756,573 (GRCm39) |
N554D |
possibly damaging |
Het |
Fam234a |
A |
C |
17: 26,435,225 (GRCm39) |
F306L |
probably benign |
Het |
Fbl |
G |
A |
7: 27,874,052 (GRCm39) |
G45D |
unknown |
Het |
Fbxw10 |
C |
A |
11: 62,753,522 (GRCm39) |
C505* |
probably null |
Het |
Ftcd |
G |
A |
10: 76,417,153 (GRCm39) |
G221S |
probably damaging |
Het |
Gad1 |
A |
G |
2: 70,417,716 (GRCm39) |
D305G |
possibly damaging |
Het |
Gdpd4 |
A |
G |
7: 97,607,074 (GRCm39) |
D16G |
probably benign |
Het |
Gsdmc3 |
T |
A |
15: 63,738,663 (GRCm39) |
D133V |
possibly damaging |
Het |
Hpdl |
T |
C |
4: 116,677,817 (GRCm39) |
T215A |
possibly damaging |
Het |
Ift56 |
T |
C |
6: 38,386,386 (GRCm39) |
F369S |
probably damaging |
Het |
Igsf10 |
A |
T |
3: 59,236,526 (GRCm39) |
N1218K |
possibly damaging |
Het |
Isg20 |
C |
T |
7: 78,569,605 (GRCm39) |
P192L |
probably benign |
Het |
Itga7 |
C |
T |
10: 128,793,543 (GRCm39) |
T126M |
unknown |
Het |
Krr1 |
A |
G |
10: 111,813,026 (GRCm39) |
I134V |
probably benign |
Het |
Krt71 |
T |
A |
15: 101,646,731 (GRCm39) |
T326S |
probably benign |
Het |
Lamb1 |
T |
A |
12: 31,337,983 (GRCm39) |
V480E |
probably damaging |
Het |
Mmp19 |
T |
A |
10: 128,630,523 (GRCm39) |
L102Q |
possibly damaging |
Het |
Mtor |
T |
A |
4: 148,622,776 (GRCm39) |
L1952* |
probably null |
Het |
Myo15a |
T |
A |
11: 60,378,243 (GRCm39) |
V215E |
|
Het |
Nfs1 |
T |
A |
2: 155,965,851 (GRCm39) |
K77* |
probably null |
Het |
Or52s1 |
A |
T |
7: 102,861,156 (GRCm39) |
I30F |
possibly damaging |
Het |
Or9a4 |
T |
A |
6: 40,549,096 (GRCm39) |
Y259N |
|
Het |
Pcdhga4 |
T |
C |
18: 37,820,560 (GRCm39) |
F703S |
probably damaging |
Het |
Pdzd7 |
A |
G |
19: 45,034,022 (GRCm39) |
S21P |
probably damaging |
Het |
Pitrm1 |
A |
T |
13: 6,617,394 (GRCm39) |
I583F |
possibly damaging |
Het |
Ppox |
A |
G |
1: 171,107,855 (GRCm39) |
L77P |
unknown |
Het |
Ppp1r37 |
G |
T |
7: 19,269,658 (GRCm39) |
R114S |
probably damaging |
Het |
Ppp4r3b |
T |
C |
11: 29,144,598 (GRCm39) |
V316A |
probably benign |
Het |
Ptprd |
A |
G |
4: 75,865,335 (GRCm39) |
I1214T |
probably damaging |
Het |
Rasal3 |
A |
G |
17: 32,615,441 (GRCm39) |
F466L |
probably benign |
Het |
Ric8b |
A |
T |
10: 84,761,447 (GRCm39) |
D41V |
probably benign |
Het |
Rin2 |
T |
C |
2: 145,686,713 (GRCm39) |
S81P |
probably benign |
Het |
Sft2d1 |
T |
A |
17: 8,542,139 (GRCm39) |
C128S |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,413,848 (GRCm39) |
V992A |
probably benign |
Het |
Sst |
A |
G |
16: 23,708,487 (GRCm39) |
S115P |
probably damaging |
Het |
Sv2b |
G |
T |
7: 74,769,772 (GRCm39) |
S590Y |
probably damaging |
Het |
Syne1 |
C |
T |
10: 5,082,021 (GRCm39) |
V868I |
probably benign |
Het |
Tex35 |
T |
C |
1: 156,934,789 (GRCm39) |
I42V |
possibly damaging |
Het |
Tlr2 |
T |
C |
3: 83,744,892 (GRCm39) |
N397S |
probably damaging |
Het |
Tmem202 |
A |
G |
9: 59,431,999 (GRCm39) |
|
probably null |
Het |
Usp20 |
A |
G |
2: 30,873,030 (GRCm39) |
|
probably null |
Het |
Usp32 |
C |
T |
11: 84,885,369 (GRCm39) |
R1226Q |
probably damaging |
Het |
Usp47 |
C |
T |
7: 111,688,801 (GRCm39) |
A736V |
possibly damaging |
Het |
Vmn2r-ps117 |
T |
A |
17: 19,044,037 (GRCm39) |
L371* |
probably null |
Het |
Wwp1 |
T |
A |
4: 19,662,215 (GRCm39) |
N127Y |
possibly damaging |
Het |
Yae1d1 |
A |
T |
13: 18,167,770 (GRCm39) |
V41D |
probably damaging |
Het |
Zbtb8b |
T |
C |
4: 129,326,517 (GRCm39) |
D216G |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,016,988 (GRCm39) |
S903P |
probably benign |
Het |
Zranb1 |
G |
A |
7: 132,585,466 (GRCm39) |
G638D |
probably damaging |
Het |
|
Other mutations in Skint1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00330:Skint1
|
APN |
4 |
111,878,777 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01890:Skint1
|
APN |
4 |
111,867,878 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02020:Skint1
|
APN |
4 |
111,882,724 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02045:Skint1
|
APN |
4 |
111,882,727 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0421:Skint1
|
UTSW |
4 |
111,876,211 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0544:Skint1
|
UTSW |
4 |
111,878,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R0617:Skint1
|
UTSW |
4 |
111,886,596 (GRCm39) |
splice site |
probably benign |
|
R0881:Skint1
|
UTSW |
4 |
111,886,054 (GRCm39) |
missense |
probably benign |
0.04 |
R0973:Skint1
|
UTSW |
4 |
111,885,412 (GRCm39) |
splice site |
probably benign |
|
R1036:Skint1
|
UTSW |
4 |
111,876,493 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1469:Skint1
|
UTSW |
4 |
111,882,708 (GRCm39) |
missense |
probably benign |
0.00 |
R1469:Skint1
|
UTSW |
4 |
111,882,708 (GRCm39) |
missense |
probably benign |
0.00 |
R2029:Skint1
|
UTSW |
4 |
111,878,653 (GRCm39) |
splice site |
probably null |
|
R2063:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
R2064:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
R2065:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
R2066:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
R2067:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
R2372:Skint1
|
UTSW |
4 |
111,876,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R2518:Skint1
|
UTSW |
4 |
111,882,678 (GRCm39) |
missense |
probably benign |
0.25 |
R2971:Skint1
|
UTSW |
4 |
111,878,527 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4656:Skint1
|
UTSW |
4 |
111,878,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R4993:Skint1
|
UTSW |
4 |
111,885,530 (GRCm39) |
critical splice donor site |
probably null |
|
R5083:Skint1
|
UTSW |
4 |
111,886,630 (GRCm39) |
missense |
probably benign |
0.01 |
R5450:Skint1
|
UTSW |
4 |
111,882,729 (GRCm39) |
missense |
probably benign |
0.00 |
R5583:Skint1
|
UTSW |
4 |
111,876,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R5645:Skint1
|
UTSW |
4 |
111,882,699 (GRCm39) |
missense |
probably benign |
0.41 |
R5877:Skint1
|
UTSW |
4 |
111,878,720 (GRCm39) |
nonsense |
probably null |
|
R5950:Skint1
|
UTSW |
4 |
111,876,532 (GRCm39) |
missense |
probably benign |
|
R5974:Skint1
|
UTSW |
4 |
111,876,516 (GRCm39) |
missense |
probably benign |
0.02 |
R6216:Skint1
|
UTSW |
4 |
111,878,679 (GRCm39) |
missense |
probably benign |
0.00 |
R6494:Skint1
|
UTSW |
4 |
111,867,909 (GRCm39) |
missense |
probably benign |
0.06 |
R7348:Skint1
|
UTSW |
4 |
111,878,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R7752:Skint1
|
UTSW |
4 |
111,876,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R7901:Skint1
|
UTSW |
4 |
111,876,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R8515:Skint1
|
UTSW |
4 |
111,867,921 (GRCm39) |
missense |
probably benign |
0.10 |
|