Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
A |
C |
6: 146,854,877 (GRCm39) |
V55G |
probably benign |
Het |
Abhd13 |
A |
G |
8: 10,037,402 (GRCm39) |
|
probably benign |
Het |
Arid5b |
T |
A |
10: 67,933,044 (GRCm39) |
K953* |
probably null |
Het |
Armh3 |
A |
C |
19: 45,928,882 (GRCm39) |
|
probably null |
Het |
B4galt6 |
A |
G |
18: 20,839,571 (GRCm39) |
V121A |
possibly damaging |
Het |
C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
Calu |
A |
G |
6: 29,366,955 (GRCm39) |
I208V |
probably benign |
Het |
Cd14 |
T |
C |
18: 36,858,537 (GRCm39) |
N306S |
probably benign |
Het |
Cdc16 |
T |
A |
8: 13,821,445 (GRCm39) |
N415K |
probably benign |
Het |
Cfap57 |
C |
A |
4: 118,471,978 (GRCm39) |
V134F |
probably benign |
Het |
Chrna2 |
C |
T |
14: 66,380,812 (GRCm39) |
A27V |
probably benign |
Het |
Chtf18 |
T |
C |
17: 25,939,583 (GRCm39) |
K67R |
probably benign |
Het |
Clock |
T |
C |
5: 76,414,201 (GRCm39) |
|
probably null |
Het |
Cplane1 |
C |
T |
15: 8,215,715 (GRCm39) |
R424W |
probably damaging |
Het |
Eif4g1 |
G |
A |
16: 20,497,623 (GRCm39) |
|
probably benign |
Het |
Eps8l2 |
A |
T |
7: 140,941,531 (GRCm39) |
M601L |
probably benign |
Het |
Fat4 |
A |
G |
3: 39,050,066 (GRCm39) |
E3976G |
possibly damaging |
Het |
Flrt3 |
T |
A |
2: 140,502,854 (GRCm39) |
H258L |
probably damaging |
Het |
Flt4 |
C |
A |
11: 49,523,971 (GRCm39) |
T517K |
possibly damaging |
Het |
Galnt7 |
T |
C |
8: 57,993,073 (GRCm39) |
N416S |
probably damaging |
Het |
Gipc1 |
C |
T |
8: 84,387,808 (GRCm39) |
Q63* |
probably null |
Het |
Gm17079 |
A |
T |
14: 51,930,542 (GRCm39) |
|
probably null |
Het |
Gucy2c |
T |
A |
6: 136,725,824 (GRCm39) |
I375F |
possibly damaging |
Het |
Hunk |
A |
G |
16: 90,183,525 (GRCm39) |
Y61C |
probably damaging |
Het |
Itga6 |
T |
C |
2: 71,673,584 (GRCm39) |
S873P |
possibly damaging |
Het |
Kcnc1 |
A |
G |
7: 46,047,298 (GRCm39) |
H66R |
possibly damaging |
Het |
Kcnc1 |
T |
C |
7: 46,084,772 (GRCm39) |
|
probably null |
Het |
Khdc3 |
A |
G |
9: 73,009,846 (GRCm39) |
T19A |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,745,287 (GRCm39) |
|
probably benign |
Het |
Lipe |
C |
T |
7: 25,084,240 (GRCm39) |
A615T |
possibly damaging |
Het |
Lrguk |
A |
T |
6: 34,039,295 (GRCm39) |
M269L |
probably benign |
Het |
Lrrc18 |
A |
G |
14: 32,730,640 (GRCm39) |
N60D |
probably damaging |
Het |
Magi1 |
T |
C |
6: 93,685,060 (GRCm39) |
T773A |
probably benign |
Het |
Map3k14 |
T |
A |
11: 103,116,163 (GRCm39) |
D755V |
possibly damaging |
Het |
Mecom |
T |
C |
3: 30,034,213 (GRCm39) |
T488A |
probably damaging |
Het |
Mmp10 |
T |
G |
9: 7,509,978 (GRCm39) |
W473G |
probably damaging |
Het |
Mrgpra2a |
C |
T |
7: 47,076,434 (GRCm39) |
V275I |
probably benign |
Het |
Myo7a |
A |
C |
7: 97,703,017 (GRCm39) |
|
probably null |
Het |
Nadsyn1 |
C |
T |
7: 143,360,662 (GRCm39) |
V369I |
probably benign |
Het |
Nptxr |
C |
A |
15: 79,674,104 (GRCm39) |
G424V |
probably damaging |
Het |
Nrg2 |
C |
T |
18: 36,185,965 (GRCm39) |
G258E |
possibly damaging |
Het |
Nup210 |
G |
A |
6: 91,019,558 (GRCm39) |
P221S |
probably damaging |
Het |
Odad2 |
A |
T |
18: 7,273,245 (GRCm39) |
Y282N |
probably damaging |
Het |
Or52a33 |
T |
A |
7: 103,288,801 (GRCm39) |
H182L |
probably damaging |
Het |
Or6c208 |
T |
C |
10: 129,224,209 (GRCm39) |
F236L |
probably benign |
Het |
Oxct1 |
A |
G |
15: 4,177,057 (GRCm39) |
D477G |
possibly damaging |
Het |
Pcdh8 |
G |
T |
14: 80,006,987 (GRCm39) |
D525E |
probably damaging |
Het |
Phldb2 |
A |
G |
16: 45,609,387 (GRCm39) |
S740P |
probably damaging |
Het |
Prss54 |
A |
G |
8: 96,286,276 (GRCm39) |
S266P |
probably benign |
Het |
Ptprh |
T |
A |
7: 4,555,737 (GRCm39) |
I741F |
probably damaging |
Het |
Rab11fip1 |
G |
T |
8: 27,644,240 (GRCm39) |
S515Y |
probably damaging |
Het |
Recql4 |
T |
A |
15: 76,593,183 (GRCm39) |
N309I |
probably benign |
Het |
Sec24a |
T |
C |
11: 51,622,713 (GRCm39) |
T388A |
possibly damaging |
Het |
Setd6 |
T |
A |
8: 96,444,556 (GRCm39) |
L83H |
probably damaging |
Het |
Slc6a12 |
G |
A |
6: 121,340,716 (GRCm39) |
W534* |
probably null |
Het |
St14 |
C |
T |
9: 31,008,476 (GRCm39) |
C488Y |
probably damaging |
Het |
Supt16 |
A |
G |
14: 52,414,065 (GRCm39) |
|
probably null |
Het |
Tanc2 |
A |
G |
11: 105,814,460 (GRCm39) |
Y1968C |
probably damaging |
Het |
Tcaim |
T |
A |
9: 122,647,897 (GRCm39) |
Y137* |
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tpm3 |
A |
T |
3: 89,997,389 (GRCm39) |
|
probably null |
Het |
Trip12 |
A |
T |
1: 84,746,352 (GRCm39) |
N475K |
probably damaging |
Het |
Twnk |
G |
T |
19: 44,996,815 (GRCm39) |
|
probably null |
Het |
Zfp287 |
T |
C |
11: 62,616,115 (GRCm39) |
K192R |
probably damaging |
Het |
Zfp799 |
G |
T |
17: 33,039,651 (GRCm39) |
T204N |
possibly damaging |
Het |
|
Other mutations in Hps4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01485:Hps4
|
APN |
5 |
112,512,377 (GRCm39) |
splice site |
probably benign |
|
IGL02331:Hps4
|
APN |
5 |
112,517,402 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02410:Hps4
|
APN |
5 |
112,518,093 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02821:Hps4
|
APN |
5 |
112,523,307 (GRCm39) |
missense |
probably benign |
0.02 |
R0748:Hps4
|
UTSW |
5 |
112,522,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R1891:Hps4
|
UTSW |
5 |
112,517,422 (GRCm39) |
splice site |
probably null |
|
R2010:Hps4
|
UTSW |
5 |
112,517,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R2305:Hps4
|
UTSW |
5 |
112,494,527 (GRCm39) |
missense |
probably damaging |
0.99 |
R3196:Hps4
|
UTSW |
5 |
112,512,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R4274:Hps4
|
UTSW |
5 |
112,522,896 (GRCm39) |
intron |
probably benign |
|
R4878:Hps4
|
UTSW |
5 |
112,523,234 (GRCm39) |
missense |
probably benign |
0.12 |
R4988:Hps4
|
UTSW |
5 |
112,526,019 (GRCm39) |
utr 3 prime |
probably benign |
|
R5843:Hps4
|
UTSW |
5 |
112,497,296 (GRCm39) |
critical splice donor site |
probably null |
|
R5896:Hps4
|
UTSW |
5 |
112,517,351 (GRCm39) |
missense |
probably benign |
0.02 |
R6318:Hps4
|
UTSW |
5 |
112,494,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R7381:Hps4
|
UTSW |
5 |
112,523,324 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7781:Hps4
|
UTSW |
5 |
112,518,388 (GRCm39) |
missense |
probably benign |
0.14 |
R8112:Hps4
|
UTSW |
5 |
112,517,977 (GRCm39) |
missense |
probably benign |
0.17 |
R8996:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9058:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9059:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9060:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9103:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9105:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9106:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9175:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9210:Hps4
|
UTSW |
5 |
112,497,227 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9226:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9227:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9229:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9230:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9232:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9233:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9234:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9236:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9330:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9459:Hps4
|
UTSW |
5 |
112,522,875 (GRCm39) |
missense |
probably benign |
0.30 |
Z1177:Hps4
|
UTSW |
5 |
112,518,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|