Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600014C10Rik |
T |
C |
7: 37,894,252 (GRCm39) |
I95T |
possibly damaging |
Het |
Adarb1 |
A |
G |
10: 77,131,632 (GRCm39) |
I619T |
probably benign |
Het |
Aldh2 |
T |
C |
5: 121,710,731 (GRCm39) |
|
probably benign |
Het |
Antxrl |
T |
A |
14: 33,782,357 (GRCm39) |
L180Q |
probably damaging |
Het |
Asnsd1 |
A |
T |
1: 53,386,760 (GRCm39) |
I289N |
probably benign |
Het |
Asxl3 |
T |
G |
18: 22,586,701 (GRCm39) |
S164A |
possibly damaging |
Het |
Cacnb2 |
C |
T |
2: 14,963,578 (GRCm39) |
T108I |
probably benign |
Het |
Capn2 |
A |
T |
1: 182,307,290 (GRCm39) |
I516N |
probably benign |
Het |
Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
Cenpo |
T |
C |
12: 4,267,318 (GRCm39) |
K73R |
probably benign |
Het |
Cfap20dc |
T |
C |
14: 8,558,109 (GRCm38) |
I159V |
probably benign |
Het |
Clasp1 |
A |
G |
1: 118,487,825 (GRCm39) |
H823R |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,937,331 (GRCm39) |
D1395G |
probably damaging |
Het |
Ddx60 |
A |
G |
8: 62,409,175 (GRCm39) |
I404V |
probably damaging |
Het |
Ddx60 |
G |
T |
8: 62,470,234 (GRCm39) |
M1407I |
probably benign |
Het |
Dennd3 |
A |
T |
15: 73,427,154 (GRCm39) |
R844W |
probably damaging |
Het |
Depdc1b |
A |
T |
13: 108,498,787 (GRCm39) |
K157* |
probably null |
Het |
Dnai7 |
T |
C |
6: 145,120,896 (GRCm39) |
H641R |
probably damaging |
Het |
Dnajc1 |
T |
C |
2: 18,312,762 (GRCm39) |
D196G |
probably damaging |
Het |
Fanca |
A |
G |
8: 123,998,009 (GRCm39) |
W1226R |
probably benign |
Het |
Fbxl13 |
A |
G |
5: 21,787,046 (GRCm39) |
V297A |
possibly damaging |
Het |
Fnta |
A |
T |
8: 26,503,498 (GRCm39) |
F96I |
possibly damaging |
Het |
Fzd3 |
T |
C |
14: 65,449,680 (GRCm39) |
|
probably benign |
Het |
Gckr |
T |
C |
5: 31,484,353 (GRCm39) |
V597A |
possibly damaging |
Het |
Gm43302 |
T |
C |
5: 105,422,216 (GRCm39) |
K496R |
probably benign |
Het |
Gm5283 |
A |
G |
3: 17,285,005 (GRCm39) |
|
noncoding transcript |
Het |
Gm6741 |
A |
G |
17: 91,544,332 (GRCm39) |
I32V |
probably benign |
Het |
Gnptab |
T |
A |
10: 88,269,906 (GRCm39) |
F870I |
probably damaging |
Het |
Gpx8 |
G |
A |
13: 113,182,140 (GRCm39) |
P98S |
probably benign |
Het |
Grm2 |
T |
C |
9: 106,524,994 (GRCm39) |
I574V |
probably benign |
Het |
Gtf3c5 |
T |
C |
2: 28,457,787 (GRCm39) |
D468G |
probably benign |
Het |
Hectd3 |
A |
T |
4: 116,856,898 (GRCm39) |
M482L |
probably benign |
Het |
Ier5 |
G |
T |
1: 154,974,599 (GRCm39) |
P193H |
possibly damaging |
Het |
Inpp4a |
A |
G |
1: 37,435,211 (GRCm39) |
N827S |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,922,652 (GRCm39) |
L387P |
probably damaging |
Het |
Map3k1 |
G |
C |
13: 111,889,016 (GRCm39) |
H1314D |
possibly damaging |
Het |
Mbl2 |
G |
A |
19: 30,211,412 (GRCm39) |
C11Y |
possibly damaging |
Het |
Msr1 |
A |
G |
8: 40,084,381 (GRCm39) |
L58P |
probably damaging |
Het |
Mtmr10 |
T |
A |
7: 63,986,512 (GRCm39) |
F530Y |
possibly damaging |
Het |
Myo7b |
A |
G |
18: 32,116,610 (GRCm39) |
L999P |
probably damaging |
Het |
Myoz3 |
T |
C |
18: 60,723,296 (GRCm39) |
E8G |
probably benign |
Het |
Naip6 |
C |
A |
13: 100,435,495 (GRCm39) |
M1009I |
probably benign |
Het |
Nav2 |
T |
A |
7: 49,102,411 (GRCm39) |
M342K |
probably damaging |
Het |
Ndufaf6 |
T |
C |
4: 11,070,228 (GRCm39) |
H131R |
probably benign |
Het |
Nlrp4a |
T |
C |
7: 26,148,849 (GRCm39) |
L152P |
probably damaging |
Het |
Or9s23 |
A |
G |
1: 92,501,379 (GRCm39) |
N162S |
probably benign |
Het |
Pan3 |
T |
C |
5: 147,387,463 (GRCm39) |
I144T |
possibly damaging |
Het |
Prkdc |
A |
T |
16: 15,552,786 (GRCm39) |
Q2074L |
probably benign |
Het |
Pthlh |
G |
A |
6: 147,158,510 (GRCm39) |
T150I |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,541,414 (GRCm39) |
Y371N |
probably damaging |
Het |
Rfwd3 |
A |
G |
8: 112,009,975 (GRCm39) |
S377P |
probably damaging |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Sap25 |
T |
G |
5: 137,640,891 (GRCm39) |
M229R |
possibly damaging |
Het |
Scaper |
A |
T |
9: 55,766,321 (GRCm39) |
V479E |
probably null |
Het |
Scn3a |
T |
A |
2: 65,337,550 (GRCm39) |
D649V |
probably damaging |
Het |
Slco1a7 |
A |
T |
6: 141,673,319 (GRCm39) |
Y406* |
probably null |
Het |
Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
Sowahb |
T |
C |
5: 93,192,284 (GRCm39) |
E145G |
possibly damaging |
Het |
Stxbp5 |
T |
A |
10: 9,711,590 (GRCm39) |
I277F |
possibly damaging |
Het |
Tanc1 |
T |
C |
2: 59,674,177 (GRCm39) |
S1754P |
possibly damaging |
Het |
Tanc2 |
A |
G |
11: 105,801,135 (GRCm39) |
D1117G |
probably benign |
Het |
Tbc1d31 |
A |
G |
15: 57,815,137 (GRCm39) |
M605V |
possibly damaging |
Het |
Tekt3 |
A |
T |
11: 62,985,514 (GRCm39) |
D440V |
possibly damaging |
Het |
Tmem67 |
C |
T |
4: 12,063,730 (GRCm39) |
W477* |
probably null |
Het |
Tra2a |
T |
C |
6: 49,227,861 (GRCm39) |
|
probably benign |
Het |
Trappc12 |
A |
G |
12: 28,797,380 (GRCm39) |
F51L |
possibly damaging |
Het |
Trrap |
C |
A |
5: 144,758,665 (GRCm39) |
P2183Q |
probably benign |
Het |
Ubn2 |
T |
A |
6: 38,447,076 (GRCm39) |
|
probably null |
Het |
Unc5d |
A |
T |
8: 29,184,568 (GRCm39) |
V644E |
probably damaging |
Het |
Xpo4 |
A |
G |
14: 57,827,547 (GRCm39) |
L883P |
probably damaging |
Het |
Zbbx |
T |
G |
3: 74,959,721 (GRCm39) |
D616A |
possibly damaging |
Het |
Zfp943 |
T |
A |
17: 22,211,804 (GRCm39) |
C297S |
probably damaging |
Het |
|
Other mutations in Sap130 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Sap130
|
APN |
18 |
31,831,819 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01060:Sap130
|
APN |
18 |
31,848,496 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01668:Sap130
|
APN |
18 |
31,813,493 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01797:Sap130
|
APN |
18 |
31,831,721 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01872:Sap130
|
APN |
18 |
31,807,473 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02010:Sap130
|
APN |
18 |
31,782,655 (GRCm39) |
missense |
probably damaging |
0.98 |
Beggar
|
UTSW |
18 |
31,781,182 (GRCm39) |
splice site |
probably null |
|
PIT4142001:Sap130
|
UTSW |
18 |
31,800,064 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4366001:Sap130
|
UTSW |
18 |
31,810,462 (GRCm39) |
missense |
probably benign |
0.06 |
R0083:Sap130
|
UTSW |
18 |
31,844,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R0083:Sap130
|
UTSW |
18 |
31,799,382 (GRCm39) |
splice site |
probably benign |
|
R0243:Sap130
|
UTSW |
18 |
31,813,734 (GRCm39) |
splice site |
probably benign |
|
R0255:Sap130
|
UTSW |
18 |
31,813,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R0704:Sap130
|
UTSW |
18 |
31,786,607 (GRCm39) |
missense |
probably damaging |
0.99 |
R1069:Sap130
|
UTSW |
18 |
31,844,682 (GRCm39) |
missense |
probably damaging |
0.96 |
R1086:Sap130
|
UTSW |
18 |
31,783,673 (GRCm39) |
splice site |
probably benign |
|
R1162:Sap130
|
UTSW |
18 |
31,781,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R1478:Sap130
|
UTSW |
18 |
31,813,527 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1484:Sap130
|
UTSW |
18 |
31,844,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R1554:Sap130
|
UTSW |
18 |
31,799,525 (GRCm39) |
missense |
probably damaging |
0.99 |
R1625:Sap130
|
UTSW |
18 |
31,807,517 (GRCm39) |
missense |
probably damaging |
0.99 |
R1771:Sap130
|
UTSW |
18 |
31,769,135 (GRCm39) |
missense |
probably benign |
0.10 |
R1793:Sap130
|
UTSW |
18 |
31,831,640 (GRCm39) |
missense |
probably benign |
0.10 |
R1905:Sap130
|
UTSW |
18 |
31,813,620 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2026:Sap130
|
UTSW |
18 |
31,831,627 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2074:Sap130
|
UTSW |
18 |
31,781,332 (GRCm39) |
missense |
probably damaging |
0.99 |
R3927:Sap130
|
UTSW |
18 |
31,807,435 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4454:Sap130
|
UTSW |
18 |
31,844,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R4980:Sap130
|
UTSW |
18 |
31,782,699 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5222:Sap130
|
UTSW |
18 |
31,799,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R5345:Sap130
|
UTSW |
18 |
31,781,251 (GRCm39) |
missense |
probably benign |
0.32 |
R5811:Sap130
|
UTSW |
18 |
31,822,495 (GRCm39) |
missense |
probably benign |
0.01 |
R6034:Sap130
|
UTSW |
18 |
31,822,459 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6034:Sap130
|
UTSW |
18 |
31,822,459 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6038:Sap130
|
UTSW |
18 |
31,813,539 (GRCm39) |
missense |
probably damaging |
0.99 |
R6038:Sap130
|
UTSW |
18 |
31,813,539 (GRCm39) |
missense |
probably damaging |
0.99 |
R6129:Sap130
|
UTSW |
18 |
31,815,144 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6431:Sap130
|
UTSW |
18 |
31,799,418 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6930:Sap130
|
UTSW |
18 |
31,815,141 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6932:Sap130
|
UTSW |
18 |
31,799,407 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7454:Sap130
|
UTSW |
18 |
31,783,565 (GRCm39) |
missense |
probably benign |
0.01 |
R7510:Sap130
|
UTSW |
18 |
31,844,268 (GRCm39) |
missense |
probably damaging |
0.99 |
R7510:Sap130
|
UTSW |
18 |
31,800,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R7641:Sap130
|
UTSW |
18 |
31,786,676 (GRCm39) |
missense |
probably damaging |
0.99 |
R7870:Sap130
|
UTSW |
18 |
31,853,714 (GRCm39) |
missense |
probably benign |
0.15 |
R7980:Sap130
|
UTSW |
18 |
31,781,182 (GRCm39) |
splice site |
probably null |
|
R8772:Sap130
|
UTSW |
18 |
31,813,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R9135:Sap130
|
UTSW |
18 |
31,780,116 (GRCm39) |
missense |
probably benign |
|
R9639:Sap130
|
UTSW |
18 |
31,844,789 (GRCm39) |
critical splice donor site |
probably null |
|
X0021:Sap130
|
UTSW |
18 |
31,780,129 (GRCm39) |
missense |
probably benign |
|
|