Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
G |
A |
7: 78,742,500 (GRCm39) |
V569M |
possibly damaging |
Het |
Alms1 |
T |
C |
6: 85,605,805 (GRCm39) |
V2016A |
probably benign |
Het |
Apcdd1 |
T |
A |
18: 63,083,054 (GRCm39) |
W295R |
probably damaging |
Het |
Arid5b |
T |
A |
10: 67,933,229 (GRCm39) |
D648V |
probably damaging |
Het |
C2cd6 |
A |
G |
1: 59,091,700 (GRCm39) |
|
probably benign |
Het |
Cst12 |
A |
T |
2: 148,634,368 (GRCm39) |
D101V |
probably damaging |
Het |
Cyp46a1 |
T |
A |
12: 108,312,394 (GRCm39) |
Y135N |
probably benign |
Het |
D630045J12Rik |
T |
C |
6: 38,161,007 (GRCm39) |
S1046G |
probably damaging |
Het |
Dhtkd1 |
A |
T |
2: 5,935,745 (GRCm39) |
Y122* |
probably null |
Het |
Disp2 |
T |
A |
2: 118,621,161 (GRCm39) |
I631N |
possibly damaging |
Het |
Dna2 |
A |
G |
10: 62,794,773 (GRCm39) |
I387V |
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,601,053 (GRCm39) |
|
probably benign |
Het |
Eif2ak3 |
T |
C |
6: 70,873,949 (GRCm39) |
F954S |
probably damaging |
Het |
Fancm |
C |
A |
12: 65,122,685 (GRCm39) |
A69D |
probably benign |
Het |
Fbxo34 |
T |
A |
14: 47,767,070 (GRCm39) |
D143E |
probably damaging |
Het |
Fchsd1 |
G |
A |
18: 38,100,667 (GRCm39) |
R144* |
probably null |
Het |
Fip1l1 |
A |
G |
5: 74,752,534 (GRCm39) |
D402G |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,821,788 (GRCm39) |
S2107P |
probably damaging |
Het |
Gm1527 |
A |
G |
3: 28,980,763 (GRCm39) |
N621S |
possibly damaging |
Het |
Hddc2 |
G |
A |
10: 31,192,314 (GRCm39) |
D54N |
probably damaging |
Het |
Ighm |
T |
A |
12: 113,384,768 (GRCm39) |
|
probably benign |
Het |
Il17d |
G |
T |
14: 57,779,972 (GRCm39) |
E165* |
probably null |
Het |
Kmt5b |
A |
T |
19: 3,857,335 (GRCm39) |
K364M |
probably damaging |
Het |
Ldb1 |
C |
A |
19: 46,021,617 (GRCm39) |
W390L |
possibly damaging |
Het |
Lgmn |
T |
C |
12: 102,370,558 (GRCm39) |
E124G |
possibly damaging |
Het |
Mroh2b |
A |
G |
15: 4,933,806 (GRCm39) |
|
probably benign |
Het |
Pga5 |
C |
T |
19: 10,646,763 (GRCm39) |
G323S |
possibly damaging |
Het |
Pkd1l3 |
A |
T |
8: 110,362,012 (GRCm39) |
N1018I |
probably damaging |
Het |
Polr2b |
A |
G |
5: 77,491,044 (GRCm39) |
T962A |
probably benign |
Het |
Ptger1 |
A |
G |
8: 84,396,086 (GRCm39) |
E381G |
probably benign |
Het |
Sec24a |
A |
T |
11: 51,624,761 (GRCm39) |
|
probably benign |
Het |
Serpine2 |
T |
A |
1: 79,799,129 (GRCm39) |
I42F |
possibly damaging |
Het |
Sh3tc1 |
C |
T |
5: 35,876,339 (GRCm39) |
R122Q |
probably benign |
Het |
Slc15a2 |
T |
C |
16: 36,579,613 (GRCm39) |
I347V |
probably benign |
Het |
Snx4 |
T |
C |
16: 33,084,725 (GRCm39) |
Y80H |
probably damaging |
Het |
Spata16 |
C |
A |
3: 26,786,944 (GRCm39) |
C207* |
probably null |
Het |
Syne2 |
A |
G |
12: 75,974,186 (GRCm39) |
Q1128R |
probably benign |
Het |
Tamalin |
A |
G |
15: 101,122,346 (GRCm39) |
Y55C |
probably damaging |
Het |
Trpm4 |
T |
A |
7: 44,968,718 (GRCm39) |
N405I |
probably damaging |
Het |
Upp2 |
A |
G |
2: 58,661,429 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Elp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01060:Elp1
|
APN |
4 |
56,784,537 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01521:Elp1
|
APN |
4 |
56,771,059 (GRCm39) |
missense |
probably benign |
0.27 |
IGL02162:Elp1
|
APN |
4 |
56,796,502 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02252:Elp1
|
APN |
4 |
56,759,813 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02726:Elp1
|
APN |
4 |
56,767,878 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02822:Elp1
|
APN |
4 |
56,774,520 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03024:Elp1
|
APN |
4 |
56,774,686 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03126:Elp1
|
APN |
4 |
56,779,717 (GRCm39) |
missense |
probably benign |
|
R0211:Elp1
|
UTSW |
4 |
56,795,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R0239:Elp1
|
UTSW |
4 |
56,784,596 (GRCm39) |
missense |
probably benign |
0.00 |
R0239:Elp1
|
UTSW |
4 |
56,784,596 (GRCm39) |
missense |
probably benign |
0.00 |
R0603:Elp1
|
UTSW |
4 |
56,792,105 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1109:Elp1
|
UTSW |
4 |
56,786,723 (GRCm39) |
missense |
probably benign |
0.00 |
R1314:Elp1
|
UTSW |
4 |
56,786,647 (GRCm39) |
missense |
probably benign |
0.00 |
R1333:Elp1
|
UTSW |
4 |
56,770,969 (GRCm39) |
splice site |
probably benign |
|
R1434:Elp1
|
UTSW |
4 |
56,781,193 (GRCm39) |
missense |
probably benign |
0.02 |
R1547:Elp1
|
UTSW |
4 |
56,798,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R1547:Elp1
|
UTSW |
4 |
56,792,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R1587:Elp1
|
UTSW |
4 |
56,786,666 (GRCm39) |
nonsense |
probably null |
|
R1601:Elp1
|
UTSW |
4 |
56,774,756 (GRCm39) |
nonsense |
probably null |
|
R2076:Elp1
|
UTSW |
4 |
56,786,620 (GRCm39) |
missense |
probably damaging |
0.98 |
R2153:Elp1
|
UTSW |
4 |
56,779,636 (GRCm39) |
splice site |
probably null |
|
R2263:Elp1
|
UTSW |
4 |
56,755,298 (GRCm39) |
splice site |
probably null |
|
R2325:Elp1
|
UTSW |
4 |
56,784,622 (GRCm39) |
missense |
probably benign |
0.00 |
R2333:Elp1
|
UTSW |
4 |
56,775,456 (GRCm39) |
missense |
probably benign |
0.28 |
R3151:Elp1
|
UTSW |
4 |
56,770,985 (GRCm39) |
missense |
probably benign |
0.24 |
R3622:Elp1
|
UTSW |
4 |
56,759,925 (GRCm39) |
splice site |
probably null |
|
R3624:Elp1
|
UTSW |
4 |
56,798,708 (GRCm39) |
missense |
possibly damaging |
0.52 |
R3889:Elp1
|
UTSW |
4 |
56,759,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R4007:Elp1
|
UTSW |
4 |
56,794,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R4196:Elp1
|
UTSW |
4 |
56,755,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R4794:Elp1
|
UTSW |
4 |
56,781,176 (GRCm39) |
small deletion |
probably benign |
|
R5330:Elp1
|
UTSW |
4 |
56,800,001 (GRCm39) |
missense |
probably benign |
0.01 |
R5331:Elp1
|
UTSW |
4 |
56,800,001 (GRCm39) |
missense |
probably benign |
0.01 |
R5360:Elp1
|
UTSW |
4 |
56,800,104 (GRCm39) |
missense |
probably benign |
0.06 |
R5362:Elp1
|
UTSW |
4 |
56,778,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R5645:Elp1
|
UTSW |
4 |
56,776,920 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5877:Elp1
|
UTSW |
4 |
56,787,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R6268:Elp1
|
UTSW |
4 |
56,762,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R6284:Elp1
|
UTSW |
4 |
56,762,281 (GRCm39) |
missense |
probably damaging |
0.99 |
R6526:Elp1
|
UTSW |
4 |
56,798,812 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6610:Elp1
|
UTSW |
4 |
56,758,236 (GRCm39) |
missense |
probably benign |
0.02 |
R6627:Elp1
|
UTSW |
4 |
56,784,647 (GRCm39) |
splice site |
probably null |
|
R6786:Elp1
|
UTSW |
4 |
56,771,555 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6823:Elp1
|
UTSW |
4 |
56,787,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R7129:Elp1
|
UTSW |
4 |
56,787,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R7157:Elp1
|
UTSW |
4 |
56,781,176 (GRCm39) |
small deletion |
probably benign |
|
R7180:Elp1
|
UTSW |
4 |
56,796,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R7391:Elp1
|
UTSW |
4 |
56,781,212 (GRCm39) |
missense |
probably benign |
0.00 |
R7391:Elp1
|
UTSW |
4 |
56,781,211 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7403:Elp1
|
UTSW |
4 |
56,778,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R7432:Elp1
|
UTSW |
4 |
56,776,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R7674:Elp1
|
UTSW |
4 |
56,792,075 (GRCm39) |
missense |
probably damaging |
0.97 |
R7736:Elp1
|
UTSW |
4 |
56,776,920 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7755:Elp1
|
UTSW |
4 |
56,774,552 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7760:Elp1
|
UTSW |
4 |
56,790,892 (GRCm39) |
missense |
probably benign |
0.20 |
R7849:Elp1
|
UTSW |
4 |
56,758,968 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7959:Elp1
|
UTSW |
4 |
56,774,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R7970:Elp1
|
UTSW |
4 |
56,771,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R8324:Elp1
|
UTSW |
4 |
56,772,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R8456:Elp1
|
UTSW |
4 |
56,781,176 (GRCm39) |
small deletion |
probably benign |
|
R8671:Elp1
|
UTSW |
4 |
56,771,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R9245:Elp1
|
UTSW |
4 |
56,771,003 (GRCm39) |
missense |
probably benign |
0.01 |
R9562:Elp1
|
UTSW |
4 |
56,772,521 (GRCm39) |
missense |
probably benign |
0.00 |
R9565:Elp1
|
UTSW |
4 |
56,772,521 (GRCm39) |
missense |
probably benign |
0.00 |
R9568:Elp1
|
UTSW |
4 |
56,786,711 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Elp1
|
UTSW |
4 |
56,790,146 (GRCm39) |
missense |
probably benign |
0.00 |
|