Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
T |
C |
9: 57,164,910 (GRCm39) |
D488G |
probably benign |
Het |
Adgrv1 |
C |
A |
13: 81,672,590 (GRCm39) |
|
probably null |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Alkbh3 |
G |
A |
2: 93,838,881 (GRCm39) |
|
probably benign |
Het |
Ankrd22 |
A |
T |
19: 34,101,569 (GRCm39) |
|
probably null |
Het |
Anks1b |
A |
G |
10: 90,096,618 (GRCm39) |
D425G |
probably damaging |
Het |
Arid2 |
A |
G |
15: 96,254,790 (GRCm39) |
D212G |
probably benign |
Het |
Bbx |
A |
T |
16: 50,071,751 (GRCm39) |
S225T |
probably benign |
Het |
Bivm |
T |
A |
1: 44,166,028 (GRCm39) |
|
probably null |
Het |
Bpifb3 |
A |
G |
2: 153,767,773 (GRCm39) |
Y282C |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,597,793 (GRCm39) |
I1767N |
probably damaging |
Het |
Ccdc28a |
G |
T |
10: 18,100,719 (GRCm39) |
S36* |
probably null |
Het |
Ccser2 |
A |
G |
14: 36,662,465 (GRCm39) |
S240P |
probably damaging |
Het |
Ceacam1 |
A |
T |
7: 25,171,421 (GRCm39) |
S348T |
probably benign |
Het |
Ddx49 |
C |
T |
8: 70,749,934 (GRCm39) |
G161D |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,193,864 (GRCm39) |
E353G |
possibly damaging |
Het |
Dnaaf6rt |
A |
T |
1: 31,262,432 (GRCm39) |
D138V |
probably damaging |
Het |
Etv2 |
A |
G |
7: 30,334,036 (GRCm39) |
|
probably null |
Het |
Extl1 |
T |
C |
4: 134,090,441 (GRCm39) |
T345A |
probably benign |
Het |
Fam163a |
A |
T |
1: 155,954,741 (GRCm39) |
S137T |
probably benign |
Het |
Fermt2 |
A |
T |
14: 45,697,338 (GRCm39) |
M671K |
possibly damaging |
Het |
Fsd1l |
T |
C |
4: 53,694,742 (GRCm39) |
C388R |
probably damaging |
Het |
Galnt18 |
A |
C |
7: 111,112,757 (GRCm39) |
V470G |
probably benign |
Het |
Grin2b |
T |
A |
6: 135,749,397 (GRCm39) |
I602F |
probably damaging |
Het |
Gucy1b1 |
G |
T |
3: 81,954,020 (GRCm39) |
|
probably null |
Het |
Hace1 |
T |
C |
10: 45,494,643 (GRCm39) |
V151A |
probably benign |
Het |
Hadhb |
T |
A |
5: 30,379,929 (GRCm39) |
D258E |
probably benign |
Het |
Heatr1 |
C |
T |
13: 12,447,545 (GRCm39) |
T1746I |
probably benign |
Het |
Hrnr |
T |
C |
3: 93,239,469 (GRCm39) |
S3236P |
unknown |
Het |
Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
Kiz |
C |
A |
2: 146,731,417 (GRCm39) |
D302E |
probably damaging |
Het |
Kng2 |
A |
T |
16: 22,806,343 (GRCm39) |
W619R |
probably damaging |
Het |
Mfap3l |
C |
A |
8: 61,124,841 (GRCm39) |
T361K |
probably damaging |
Het |
Mlec |
T |
C |
5: 115,288,376 (GRCm39) |
H160R |
probably benign |
Het |
Myo16 |
T |
C |
8: 10,365,494 (GRCm39) |
L89P |
probably benign |
Het |
Neb |
T |
C |
2: 52,114,564 (GRCm39) |
I4232V |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,302,433 (GRCm39) |
I334V |
possibly damaging |
Het |
Nipbl |
A |
C |
15: 8,347,867 (GRCm39) |
F1942V |
probably damaging |
Het |
Or2ag17 |
A |
T |
7: 106,389,665 (GRCm39) |
I181N |
probably benign |
Het |
Or4a70 |
C |
A |
2: 89,324,066 (GRCm39) |
V197F |
probably damaging |
Het |
Or4c11c |
T |
C |
2: 88,661,655 (GRCm39) |
S65P |
probably damaging |
Het |
Or51a10 |
A |
G |
7: 103,698,902 (GRCm39) |
Y220H |
probably damaging |
Het |
Pabpc2 |
G |
T |
18: 39,907,772 (GRCm39) |
A346S |
probably damaging |
Het |
Paxip1 |
T |
C |
5: 27,971,171 (GRCm39) |
T393A |
unknown |
Het |
Pcdhgb5 |
A |
T |
18: 37,864,981 (GRCm39) |
T259S |
probably benign |
Het |
Pfkp |
A |
T |
13: 6,669,224 (GRCm39) |
L253H |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,215,869 (GRCm39) |
D1428G |
probably benign |
Het |
Pkd1l2 |
T |
G |
8: 117,808,209 (GRCm39) |
D105A |
probably damaging |
Het |
Pou2f1 |
G |
T |
1: 165,707,889 (GRCm39) |
|
probably benign |
Het |
Ppfia4 |
T |
C |
1: 134,256,921 (GRCm39) |
E100G |
probably damaging |
Het |
Ppp1r15a |
G |
T |
7: 45,173,446 (GRCm39) |
T454K |
probably damaging |
Het |
Prpsap1 |
A |
T |
11: 116,362,239 (GRCm39) |
I381N |
probably damaging |
Het |
Ptx3 |
T |
A |
3: 66,132,265 (GRCm39) |
V262E |
probably damaging |
Het |
Rab21 |
A |
T |
10: 115,130,831 (GRCm39) |
H158Q |
probably benign |
Het |
Rasa2 |
A |
G |
9: 96,426,357 (GRCm39) |
S830P |
probably damaging |
Het |
Rdh1 |
G |
A |
10: 127,600,622 (GRCm39) |
S215N |
probably benign |
Het |
Rhot1 |
G |
A |
11: 80,141,885 (GRCm39) |
R463H |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
Selenom |
A |
T |
11: 3,464,915 (GRCm39) |
|
probably benign |
Het |
Selenop |
T |
C |
15: 3,308,947 (GRCm39) |
C300R |
probably damaging |
Het |
Ss18l1 |
A |
G |
2: 179,703,706 (GRCm39) |
N313S |
unknown |
Het |
Sycp2l |
A |
G |
13: 41,295,200 (GRCm39) |
D289G |
probably damaging |
Het |
Terf1 |
C |
T |
1: 15,889,221 (GRCm39) |
H188Y |
probably benign |
Het |
Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
Trdn |
A |
G |
10: 33,181,065 (GRCm39) |
T357A |
probably damaging |
Het |
Trip11 |
A |
C |
12: 101,856,859 (GRCm39) |
M401R |
probably benign |
Het |
Ubald2 |
A |
C |
11: 116,325,211 (GRCm39) |
D26A |
probably benign |
Het |
Ube2w |
C |
G |
1: 16,689,508 (GRCm39) |
|
probably benign |
Het |
Vmn2r101 |
T |
A |
17: 19,811,267 (GRCm39) |
S450R |
probably benign |
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 |
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 |
R9417:Skint1
|
UTSW |
4 |
111,878,509 (GRCm39) |
missense |
probably benign |
0.33 |
|