Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,595,354 (GRCm39) |
M297K |
probably damaging |
Het |
Ace |
A |
C |
11: 105,866,134 (GRCm39) |
H34P |
probably benign |
Het |
Agbl2 |
A |
T |
2: 90,638,371 (GRCm39) |
N652I |
probably benign |
Het |
Auh |
T |
A |
13: 53,073,122 (GRCm39) |
L86F |
possibly damaging |
Het |
Bmp10 |
A |
G |
6: 87,411,302 (GRCm39) |
K365R |
probably damaging |
Het |
Cacna1d |
A |
T |
14: 29,764,314 (GRCm39) |
S2086T |
probably damaging |
Het |
Calcoco1 |
C |
A |
15: 102,626,374 (GRCm39) |
R105L |
possibly damaging |
Het |
Casc3 |
T |
G |
11: 98,719,385 (GRCm39) |
V509G |
probably damaging |
Het |
Clmn |
A |
G |
12: 104,748,131 (GRCm39) |
V472A |
probably benign |
Het |
Cyp2b19 |
A |
T |
7: 26,458,852 (GRCm39) |
S142C |
probably damaging |
Het |
Derl3 |
T |
C |
10: 75,729,335 (GRCm39) |
L26P |
probably damaging |
Het |
Dgkh |
C |
T |
14: 78,825,067 (GRCm39) |
A863T |
probably damaging |
Het |
Dhx30 |
C |
T |
9: 109,913,666 (GRCm39) |
R1127Q |
probably benign |
Het |
Dmxl2 |
A |
G |
9: 54,324,037 (GRCm39) |
S1116P |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,328,805 (GRCm39) |
V3179A |
probably benign |
Het |
Dnajb11 |
A |
T |
16: 22,687,471 (GRCm39) |
N156I |
probably benign |
Het |
Dpep1 |
A |
T |
8: 123,927,394 (GRCm39) |
E316V |
probably damaging |
Het |
Entrep1 |
A |
T |
19: 23,962,193 (GRCm39) |
M270K |
probably benign |
Het |
F2rl2 |
T |
A |
13: 95,837,617 (GRCm39) |
F221I |
probably benign |
Het |
Flg2 |
T |
A |
3: 93,127,668 (GRCm39) |
D173E |
probably benign |
Het |
Fshr |
A |
T |
17: 89,293,414 (GRCm39) |
D421E |
probably damaging |
Het |
Gfm2 |
T |
A |
13: 97,309,131 (GRCm39) |
V612E |
probably benign |
Het |
Gm17655 |
T |
G |
5: 110,195,439 (GRCm39) |
K114N |
possibly damaging |
Het |
Gm45844 |
C |
A |
7: 7,281,183 (GRCm39) |
|
probably benign |
Het |
Gpr142 |
A |
T |
11: 114,697,203 (GRCm39) |
I250F |
probably damaging |
Het |
Hexa |
A |
G |
9: 59,470,519 (GRCm39) |
Q447R |
probably damaging |
Het |
Leng8 |
T |
C |
7: 4,148,568 (GRCm39) |
L780P |
probably benign |
Het |
Lrrk1 |
T |
C |
7: 65,911,881 (GRCm39) |
D1893G |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,407,641 (GRCm39) |
I139F |
probably damaging |
Het |
Megf10 |
A |
T |
18: 57,313,621 (GRCm39) |
T22S |
probably benign |
Het |
Mup-ps1 |
C |
A |
4: 60,088,549 (GRCm39) |
|
noncoding transcript |
Het |
Myh13 |
A |
T |
11: 67,255,556 (GRCm39) |
E1642V |
probably damaging |
Het |
Myof |
A |
G |
19: 37,913,068 (GRCm39) |
Y1462H |
probably damaging |
Het |
Npy5r |
A |
T |
8: 67,134,675 (GRCm39) |
N39K |
possibly damaging |
Het |
Or5m13b |
G |
A |
2: 85,753,735 (GRCm39) |
G41D |
probably damaging |
Het |
Pax6 |
A |
G |
2: 105,514,247 (GRCm39) |
I29V |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,178,436 (GRCm39) |
Y307H |
probably benign |
Het |
Pmf1 |
A |
C |
3: 88,303,358 (GRCm39) |
Y68D |
probably damaging |
Het |
Psen2 |
C |
A |
1: 180,073,292 (GRCm39) |
E10* |
probably null |
Het |
Ptprs |
T |
A |
17: 56,726,080 (GRCm39) |
M991L |
probably benign |
Het |
R3hdm4 |
A |
G |
10: 79,749,495 (GRCm39) |
V20A |
possibly damaging |
Het |
Rad17 |
T |
C |
13: 100,754,274 (GRCm39) |
N649D |
probably benign |
Het |
Rad9b |
A |
T |
5: 122,489,415 (GRCm39) |
C38S |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 78,976,469 (GRCm39) |
M1296V |
probably benign |
Het |
Rbp3 |
T |
C |
14: 33,678,439 (GRCm39) |
S796P |
probably damaging |
Het |
Rpl10-ps3 |
A |
G |
9: 50,256,082 (GRCm39) |
S54P |
probably benign |
Het |
Sclt1 |
T |
A |
3: 41,581,612 (GRCm39) |
I688F |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,438,535 (GRCm39) |
I1778T |
probably damaging |
Het |
Scrib |
C |
T |
15: 75,939,021 (GRCm39) |
R159Q |
possibly damaging |
Het |
Senp1 |
C |
T |
15: 97,956,097 (GRCm39) |
E441K |
probably damaging |
Het |
Sipa1l1 |
T |
A |
12: 82,389,024 (GRCm39) |
F417I |
probably damaging |
Het |
Slco1a7 |
A |
C |
6: 141,684,764 (GRCm39) |
D230E |
probably benign |
Het |
Smcr8 |
A |
G |
11: 60,670,394 (GRCm39) |
D514G |
probably damaging |
Het |
Tbc1d23 |
T |
G |
16: 56,993,513 (GRCm39) |
D551A |
probably benign |
Het |
Tet1 |
G |
T |
10: 62,649,152 (GRCm39) |
T149N |
probably damaging |
Het |
Them4 |
A |
T |
3: 94,224,806 (GRCm39) |
D61V |
possibly damaging |
Het |
Trak1 |
A |
T |
9: 121,289,478 (GRCm39) |
I597F |
probably damaging |
Het |
Trank1 |
A |
G |
9: 111,206,864 (GRCm39) |
I1666V |
possibly damaging |
Het |
Vipr2 |
A |
C |
12: 116,106,604 (GRCm39) |
N378T |
probably damaging |
Het |
Zfp804b |
T |
C |
5: 6,821,231 (GRCm39) |
R575G |
probably benign |
Het |
Zfp941 |
A |
T |
7: 140,392,158 (GRCm39) |
C400* |
probably null |
Het |
Zswim5 |
A |
C |
4: 116,819,818 (GRCm39) |
S408R |
probably benign |
Het |
|
Other mutations in Nipbl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00417:Nipbl
|
APN |
15 |
8,396,157 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00712:Nipbl
|
APN |
15 |
8,398,958 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00789:Nipbl
|
APN |
15 |
8,326,353 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01025:Nipbl
|
APN |
15 |
8,379,939 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01087:Nipbl
|
APN |
15 |
8,379,981 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01474:Nipbl
|
APN |
15 |
8,340,693 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01537:Nipbl
|
APN |
15 |
8,380,023 (GRCm39) |
missense |
probably benign |
|
IGL01723:Nipbl
|
APN |
15 |
8,364,555 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01749:Nipbl
|
APN |
15 |
8,391,305 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02398:Nipbl
|
APN |
15 |
8,356,574 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02437:Nipbl
|
APN |
15 |
8,388,558 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02450:Nipbl
|
APN |
15 |
8,373,058 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02477:Nipbl
|
APN |
15 |
8,353,131 (GRCm39) |
splice site |
probably null |
|
IGL02547:Nipbl
|
APN |
15 |
8,381,082 (GRCm39) |
missense |
probably benign |
|
IGL02678:Nipbl
|
APN |
15 |
8,380,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02679:Nipbl
|
APN |
15 |
8,325,037 (GRCm39) |
missense |
probably benign |
0.34 |
IGL03003:Nipbl
|
APN |
15 |
8,379,798 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03117:Nipbl
|
APN |
15 |
8,361,936 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03162:Nipbl
|
APN |
15 |
8,368,463 (GRCm39) |
missense |
probably benign |
0.37 |
IGL03224:Nipbl
|
APN |
15 |
8,322,569 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03339:Nipbl
|
APN |
15 |
8,380,360 (GRCm39) |
missense |
probably benign |
0.12 |
R0346_Nipbl_297
|
UTSW |
15 |
8,390,440 (GRCm39) |
missense |
probably damaging |
0.99 |
R0347_Nipbl_476
|
UTSW |
15 |
8,380,216 (GRCm39) |
missense |
probably benign |
|
R3620_nipbl_616
|
UTSW |
15 |
8,362,508 (GRCm39) |
missense |
probably damaging |
0.99 |
R6388_Nipbl_651
|
UTSW |
15 |
8,330,268 (GRCm39) |
missense |
probably damaging |
0.99 |
R8441_Nipbl_224
|
UTSW |
15 |
8,322,599 (GRCm39) |
missense |
probably benign |
0.00 |
R0271:Nipbl
|
UTSW |
15 |
8,391,221 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0346:Nipbl
|
UTSW |
15 |
8,390,440 (GRCm39) |
missense |
probably damaging |
0.99 |
R0347:Nipbl
|
UTSW |
15 |
8,380,216 (GRCm39) |
missense |
probably benign |
|
R0422:Nipbl
|
UTSW |
15 |
8,381,112 (GRCm39) |
missense |
probably benign |
|
R0486:Nipbl
|
UTSW |
15 |
8,368,354 (GRCm39) |
splice site |
probably benign |
|
R0652:Nipbl
|
UTSW |
15 |
8,332,964 (GRCm39) |
missense |
probably benign |
0.23 |
R0667:Nipbl
|
UTSW |
15 |
8,390,488 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0689:Nipbl
|
UTSW |
15 |
8,322,562 (GRCm39) |
splice site |
probably null |
|
R0726:Nipbl
|
UTSW |
15 |
8,381,039 (GRCm39) |
missense |
probably benign |
|
R0881:Nipbl
|
UTSW |
15 |
8,337,096 (GRCm39) |
missense |
probably damaging |
0.98 |
R0904:Nipbl
|
UTSW |
15 |
8,391,202 (GRCm39) |
missense |
probably benign |
|
R0969:Nipbl
|
UTSW |
15 |
8,321,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R1401:Nipbl
|
UTSW |
15 |
8,401,657 (GRCm39) |
missense |
probably damaging |
0.97 |
R1479:Nipbl
|
UTSW |
15 |
8,379,773 (GRCm39) |
missense |
probably benign |
0.00 |
R1495:Nipbl
|
UTSW |
15 |
8,380,764 (GRCm39) |
missense |
probably benign |
0.00 |
R1609:Nipbl
|
UTSW |
15 |
8,396,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R1679:Nipbl
|
UTSW |
15 |
8,332,396 (GRCm39) |
missense |
probably benign |
0.31 |
R1756:Nipbl
|
UTSW |
15 |
8,368,035 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1778:Nipbl
|
UTSW |
15 |
8,348,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R1835:Nipbl
|
UTSW |
15 |
8,373,001 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1883:Nipbl
|
UTSW |
15 |
8,356,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R1914:Nipbl
|
UTSW |
15 |
8,373,114 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1915:Nipbl
|
UTSW |
15 |
8,373,114 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2030:Nipbl
|
UTSW |
15 |
8,379,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R2046:Nipbl
|
UTSW |
15 |
8,353,951 (GRCm39) |
missense |
probably benign |
0.08 |
R2076:Nipbl
|
UTSW |
15 |
8,340,691 (GRCm39) |
missense |
probably benign |
0.11 |
R2163:Nipbl
|
UTSW |
15 |
8,366,403 (GRCm39) |
missense |
probably damaging |
0.99 |
R2170:Nipbl
|
UTSW |
15 |
8,322,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R2425:Nipbl
|
UTSW |
15 |
8,380,966 (GRCm39) |
missense |
probably benign |
0.06 |
R2475:Nipbl
|
UTSW |
15 |
8,364,490 (GRCm39) |
missense |
probably benign |
0.05 |
R2484:Nipbl
|
UTSW |
15 |
8,353,182 (GRCm39) |
missense |
probably damaging |
0.99 |
R2970:Nipbl
|
UTSW |
15 |
8,340,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R3116:Nipbl
|
UTSW |
15 |
8,373,076 (GRCm39) |
missense |
probably benign |
0.00 |
R3620:Nipbl
|
UTSW |
15 |
8,362,508 (GRCm39) |
missense |
probably damaging |
0.99 |
R3725:Nipbl
|
UTSW |
15 |
8,325,145 (GRCm39) |
missense |
probably damaging |
0.97 |
R3745:Nipbl
|
UTSW |
15 |
8,388,358 (GRCm39) |
missense |
probably benign |
|
R3902:Nipbl
|
UTSW |
15 |
8,379,730 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3960:Nipbl
|
UTSW |
15 |
8,380,018 (GRCm39) |
missense |
probably benign |
|
R4164:Nipbl
|
UTSW |
15 |
8,368,418 (GRCm39) |
missense |
probably benign |
0.24 |
R4246:Nipbl
|
UTSW |
15 |
8,361,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R4381:Nipbl
|
UTSW |
15 |
8,388,690 (GRCm39) |
missense |
probably benign |
0.00 |
R4394:Nipbl
|
UTSW |
15 |
8,391,345 (GRCm39) |
missense |
probably benign |
0.00 |
R4439:Nipbl
|
UTSW |
15 |
8,368,208 (GRCm39) |
missense |
probably damaging |
0.98 |
R4440:Nipbl
|
UTSW |
15 |
8,396,142 (GRCm39) |
missense |
probably damaging |
0.98 |
R4441:Nipbl
|
UTSW |
15 |
8,396,142 (GRCm39) |
missense |
probably damaging |
0.98 |
R4672:Nipbl
|
UTSW |
15 |
8,332,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R4749:Nipbl
|
UTSW |
15 |
8,395,313 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5300:Nipbl
|
UTSW |
15 |
8,380,981 (GRCm39) |
missense |
probably benign |
|
R5428:Nipbl
|
UTSW |
15 |
8,359,780 (GRCm39) |
missense |
probably benign |
0.00 |
R5641:Nipbl
|
UTSW |
15 |
8,396,196 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5643:Nipbl
|
UTSW |
15 |
8,388,391 (GRCm39) |
missense |
probably benign |
|
R5644:Nipbl
|
UTSW |
15 |
8,388,391 (GRCm39) |
missense |
probably benign |
|
R5681:Nipbl
|
UTSW |
15 |
8,330,866 (GRCm39) |
missense |
probably benign |
0.22 |
R5741:Nipbl
|
UTSW |
15 |
8,354,133 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5899:Nipbl
|
UTSW |
15 |
8,364,328 (GRCm39) |
splice site |
probably null |
|
R5970:Nipbl
|
UTSW |
15 |
8,326,302 (GRCm39) |
missense |
probably benign |
0.27 |
R6059:Nipbl
|
UTSW |
15 |
8,325,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R6213:Nipbl
|
UTSW |
15 |
8,364,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R6216:Nipbl
|
UTSW |
15 |
8,347,867 (GRCm39) |
missense |
probably damaging |
0.99 |
R6236:Nipbl
|
UTSW |
15 |
8,354,064 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6267:Nipbl
|
UTSW |
15 |
8,330,379 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6296:Nipbl
|
UTSW |
15 |
8,330,379 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6388:Nipbl
|
UTSW |
15 |
8,330,268 (GRCm39) |
missense |
probably damaging |
0.99 |
R6427:Nipbl
|
UTSW |
15 |
8,381,049 (GRCm39) |
missense |
probably benign |
|
R6707:Nipbl
|
UTSW |
15 |
8,354,043 (GRCm39) |
missense |
probably benign |
0.01 |
R6731:Nipbl
|
UTSW |
15 |
8,352,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R6921:Nipbl
|
UTSW |
15 |
8,332,969 (GRCm39) |
missense |
probably benign |
0.28 |
R7239:Nipbl
|
UTSW |
15 |
8,321,619 (GRCm39) |
critical splice donor site |
probably null |
|
R7346:Nipbl
|
UTSW |
15 |
8,373,090 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7485:Nipbl
|
UTSW |
15 |
8,359,779 (GRCm39) |
missense |
probably benign |
0.01 |
R7486:Nipbl
|
UTSW |
15 |
8,325,120 (GRCm39) |
missense |
probably benign |
0.25 |
R7598:Nipbl
|
UTSW |
15 |
8,372,977 (GRCm39) |
missense |
probably benign |
0.24 |
R7609:Nipbl
|
UTSW |
15 |
8,335,356 (GRCm39) |
missense |
probably benign |
0.27 |
R7674:Nipbl
|
UTSW |
15 |
8,322,585 (GRCm39) |
missense |
probably benign |
0.15 |
R7706:Nipbl
|
UTSW |
15 |
8,381,010 (GRCm39) |
missense |
probably benign |
0.01 |
R7760:Nipbl
|
UTSW |
15 |
8,388,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R7766:Nipbl
|
UTSW |
15 |
8,326,333 (GRCm39) |
missense |
probably benign |
0.45 |
R7825:Nipbl
|
UTSW |
15 |
8,320,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R7862:Nipbl
|
UTSW |
15 |
8,355,236 (GRCm39) |
missense |
probably benign |
0.06 |
R7958:Nipbl
|
UTSW |
15 |
8,340,742 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8077:Nipbl
|
UTSW |
15 |
8,340,734 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8119:Nipbl
|
UTSW |
15 |
8,388,696 (GRCm39) |
missense |
probably benign |
0.22 |
R8355:Nipbl
|
UTSW |
15 |
8,364,528 (GRCm39) |
missense |
probably damaging |
0.98 |
R8441:Nipbl
|
UTSW |
15 |
8,322,599 (GRCm39) |
missense |
probably benign |
0.00 |
R8455:Nipbl
|
UTSW |
15 |
8,364,528 (GRCm39) |
missense |
probably damaging |
0.98 |
R8717:Nipbl
|
UTSW |
15 |
8,368,225 (GRCm39) |
missense |
probably benign |
|
R8739:Nipbl
|
UTSW |
15 |
8,332,904 (GRCm39) |
missense |
probably benign |
0.08 |
R8854:Nipbl
|
UTSW |
15 |
8,330,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R8887:Nipbl
|
UTSW |
15 |
8,391,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R8942:Nipbl
|
UTSW |
15 |
8,381,104 (GRCm39) |
missense |
probably benign |
|
R8991:Nipbl
|
UTSW |
15 |
8,320,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R9008:Nipbl
|
UTSW |
15 |
8,356,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R9070:Nipbl
|
UTSW |
15 |
8,368,215 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9116:Nipbl
|
UTSW |
15 |
8,380,340 (GRCm39) |
missense |
probably benign |
0.00 |
R9622:Nipbl
|
UTSW |
15 |
8,366,373 (GRCm39) |
missense |
probably benign |
0.27 |
R9778:Nipbl
|
UTSW |
15 |
8,321,032 (GRCm39) |
missense |
probably benign |
0.10 |
RF020:Nipbl
|
UTSW |
15 |
8,388,418 (GRCm39) |
missense |
probably damaging |
0.98 |
X0022:Nipbl
|
UTSW |
15 |
8,381,199 (GRCm39) |
missense |
probably benign |
0.05 |
X0027:Nipbl
|
UTSW |
15 |
8,353,021 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Nipbl
|
UTSW |
15 |
8,337,366 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Nipbl
|
UTSW |
15 |
8,368,183 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1177:Nipbl
|
UTSW |
15 |
8,368,164 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Nipbl
|
UTSW |
15 |
8,366,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|