Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr10 |
A |
G |
12: 70,990,259 (GRCm39) |
T104A |
probably damaging |
Het |
Agbl1 |
G |
A |
7: 76,774,270 (GRCm39) |
V1065I |
unknown |
Het |
Agpat1 |
G |
T |
17: 34,830,663 (GRCm39) |
V196L |
probably null |
Het |
Agxt2 |
T |
A |
15: 10,409,597 (GRCm39) |
V499E |
probably damaging |
Het |
Amy2a1 |
T |
A |
3: 113,325,955 (GRCm39) |
|
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,592,215 (GRCm39) |
T834A |
probably benign |
Het |
Arhgef18 |
T |
A |
8: 3,479,314 (GRCm39) |
S51T |
probably benign |
Het |
Armc12 |
A |
C |
17: 28,751,345 (GRCm39) |
D113A |
probably benign |
Het |
Azin1 |
T |
A |
15: 38,490,646 (GRCm39) |
I436F |
probably benign |
Het |
B3galnt2 |
T |
C |
13: 14,166,107 (GRCm39) |
V334A |
probably damaging |
Het |
Ccdc68 |
C |
T |
18: 70,080,203 (GRCm39) |
H183Y |
probably benign |
Het |
Cd180 |
TA |
TAA |
13: 102,841,514 (GRCm39) |
|
probably null |
Het |
Cemip |
A |
T |
7: 83,606,833 (GRCm39) |
W795R |
probably damaging |
Het |
Cenpj |
C |
T |
14: 56,802,176 (GRCm39) |
E130K |
possibly damaging |
Het |
Ciao1 |
G |
C |
2: 127,089,062 (GRCm39) |
C52W |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,232,176 (GRCm39) |
S971P |
possibly damaging |
Het |
Cnot2 |
A |
T |
10: 116,384,960 (GRCm39) |
L9* |
probably null |
Het |
Coro1c |
G |
T |
5: 114,003,747 (GRCm39) |
H91N |
probably damaging |
Het |
Crbn |
A |
T |
6: 106,777,017 (GRCm39) |
M1K |
probably null |
Het |
Ctsb |
T |
A |
14: 63,373,112 (GRCm39) |
W90R |
probably damaging |
Het |
Ctse |
A |
G |
1: 131,595,862 (GRCm39) |
I185V |
probably damaging |
Het |
Dennd1b |
G |
T |
1: 138,981,100 (GRCm39) |
E105* |
probably null |
Het |
Eif4a3l1 |
A |
G |
6: 136,306,141 (GRCm39) |
I201V |
possibly damaging |
Het |
Exoc5 |
G |
A |
14: 49,251,710 (GRCm39) |
Q679* |
probably null |
Het |
Firrm |
A |
T |
1: 163,794,659 (GRCm39) |
W512R |
probably damaging |
Het |
Gabrg3 |
G |
A |
7: 56,374,268 (GRCm39) |
R433C |
probably damaging |
Het |
Gria2 |
C |
A |
3: 80,709,689 (GRCm39) |
M1I |
probably null |
Het |
H1f6 |
T |
C |
13: 23,880,029 (GRCm39) |
S61P |
probably damaging |
Het |
Hoxb6 |
A |
T |
11: 96,191,645 (GRCm39) |
Q189L |
probably damaging |
Het |
Hoxd10 |
A |
G |
2: 74,524,600 (GRCm39) |
N304S |
possibly damaging |
Het |
Htra4 |
A |
T |
8: 25,528,557 (GRCm39) |
C112S |
probably damaging |
Het |
Ide |
T |
C |
19: 37,261,598 (GRCm39) |
T715A |
|
Het |
Ipo13 |
A |
T |
4: 117,758,801 (GRCm39) |
I688N |
probably damaging |
Het |
Irs2 |
A |
C |
8: 11,057,400 (GRCm39) |
L344R |
probably damaging |
Het |
Kat6a |
A |
G |
8: 23,429,987 (GRCm39) |
T1781A |
unknown |
Het |
Lin7a |
G |
T |
10: 107,247,844 (GRCm39) |
V172L |
probably damaging |
Het |
Lpcat1 |
G |
T |
13: 73,653,650 (GRCm39) |
E282D |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,063,584 (GRCm39) |
T963A |
probably benign |
Het |
Mfsd14a |
G |
A |
3: 116,439,118 (GRCm39) |
A128V |
probably benign |
Het |
Mfsd6 |
C |
G |
1: 52,747,903 (GRCm39) |
G321R |
probably damaging |
Het |
Mill2 |
C |
T |
7: 18,590,475 (GRCm39) |
T185I |
probably damaging |
Het |
Mpped1 |
C |
T |
15: 83,738,673 (GRCm39) |
T270I |
possibly damaging |
Het |
Mrtfb |
G |
T |
16: 13,230,185 (GRCm39) |
A957S |
possibly damaging |
Het |
Myh9 |
T |
A |
15: 77,675,017 (GRCm39) |
Y300F |
possibly damaging |
Het |
Nlrp2 |
T |
A |
7: 5,304,052 (GRCm39) |
T953S |
possibly damaging |
Het |
Nlrp4e |
T |
A |
7: 23,020,799 (GRCm39) |
S429T |
probably benign |
Het |
Nphp3 |
T |
A |
9: 103,913,376 (GRCm39) |
Y1003N |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,310,339 (GRCm39) |
K1588R |
probably benign |
Het |
Odad2 |
C |
A |
18: 7,127,324 (GRCm39) |
R963L |
possibly damaging |
Het |
Or10ag56 |
G |
A |
2: 87,139,165 (GRCm39) |
V31I |
probably benign |
Het |
Or5b124 |
T |
A |
19: 13,611,414 (GRCm39) |
V313D |
probably damaging |
Het |
Pam |
A |
G |
1: 97,753,660 (GRCm39) |
V870A |
probably benign |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pierce1 |
C |
A |
2: 28,352,390 (GRCm39) |
M124I |
probably damaging |
Het |
Plin3 |
A |
T |
17: 56,591,315 (GRCm39) |
V155E |
probably damaging |
Het |
Pmepa1 |
T |
C |
2: 173,117,962 (GRCm39) |
T6A |
probably benign |
Het |
Pnpla7 |
G |
A |
2: 24,873,503 (GRCm39) |
V170I |
probably damaging |
Het |
Pramel34 |
A |
T |
5: 93,784,089 (GRCm39) |
C458* |
probably null |
Het |
Ptprz1 |
A |
G |
6: 22,986,283 (GRCm39) |
H361R |
probably null |
Het |
Pvalb |
T |
A |
15: 78,086,767 (GRCm39) |
I50F |
possibly damaging |
Het |
Relch |
A |
T |
1: 105,614,709 (GRCm39) |
I218F |
possibly damaging |
Het |
Rhag |
G |
A |
17: 41,142,081 (GRCm39) |
A175T |
probably damaging |
Het |
Slc24a4 |
T |
C |
12: 102,200,983 (GRCm39) |
V291A |
possibly damaging |
Het |
Slc9b2 |
G |
A |
3: 135,042,295 (GRCm39) |
E525K |
probably benign |
Het |
Smg7 |
A |
G |
1: 152,720,971 (GRCm39) |
F747S |
possibly damaging |
Het |
Sorcs1 |
T |
G |
19: 50,141,300 (GRCm39) |
I1144L |
probably benign |
Het |
Sox1 |
A |
T |
8: 12,447,390 (GRCm39) |
I344F |
possibly damaging |
Het |
Speer4e2 |
A |
T |
5: 15,027,718 (GRCm39) |
S53T |
probably benign |
Het |
Spta1 |
A |
T |
1: 174,067,750 (GRCm39) |
E2059V |
probably damaging |
Het |
Sva |
T |
A |
6: 42,017,050 (GRCm39) |
N52K |
possibly damaging |
Het |
Sva |
T |
A |
6: 42,017,052 (GRCm39) |
M53K |
probably benign |
Het |
Thsd7b |
A |
G |
1: 129,849,027 (GRCm39) |
Y913C |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,634,719 (GRCm39) |
S864P |
possibly damaging |
Het |
Tma16 |
A |
G |
8: 66,936,779 (GRCm39) |
V16A |
probably benign |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Treml1 |
A |
G |
17: 48,673,774 (GRCm39) |
S262G |
probably benign |
Het |
Ttn |
A |
T |
2: 76,597,797 (GRCm39) |
D19705E |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,594,239 (GRCm39) |
L2162P |
possibly damaging |
Het |
Vmn2r60 |
A |
G |
7: 41,791,723 (GRCm39) |
I549V |
possibly damaging |
Het |
Xpo4 |
T |
C |
14: 57,851,156 (GRCm39) |
N329S |
probably benign |
Het |
Zfp879 |
T |
A |
11: 50,723,886 (GRCm39) |
H390L |
probably damaging |
Het |
Zranb1 |
C |
T |
7: 132,583,117 (GRCm39) |
S512F |
probably damaging |
Het |
Zswim8 |
A |
G |
14: 20,766,393 (GRCm39) |
H847R |
probably benign |
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 |
R1487:Hps4
|
UTSW |
5 |
112,525,865 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|