Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam8 |
T |
A |
7: 139,563,781 (GRCm39) |
R740S |
possibly damaging |
Het |
Adamtsl3 |
A |
C |
7: 82,261,612 (GRCm39) |
D1676A |
possibly damaging |
Het |
Atp6v1a |
A |
G |
16: 43,922,120 (GRCm39) |
|
probably benign |
Het |
Camsap3 |
T |
C |
8: 3,653,785 (GRCm39) |
L485P |
probably damaging |
Het |
Ccdc81 |
A |
T |
7: 89,515,838 (GRCm39) |
F614I |
possibly damaging |
Het |
Cdk5rap2 |
C |
A |
4: 70,153,674 (GRCm39) |
K1716N |
possibly damaging |
Het |
Cfap47 |
T |
A |
X: 78,553,621 (GRCm39) |
T285S |
probably damaging |
Het |
Cfh |
T |
C |
1: 140,014,234 (GRCm39) |
M1197V |
probably damaging |
Het |
Cyp3a11 |
A |
G |
5: 145,802,810 (GRCm39) |
F228L |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,383,864 (GRCm39) |
M575T |
probably benign |
Het |
Dhx36 |
A |
T |
3: 62,395,643 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
T |
A |
9: 54,301,053 (GRCm39) |
I1554L |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,378,665 (GRCm39) |
|
probably null |
Het |
Dsp |
A |
G |
13: 38,381,594 (GRCm39) |
S2181G |
probably benign |
Het |
Epg5 |
T |
C |
18: 78,060,894 (GRCm39) |
I1959T |
probably benign |
Het |
Fam135a |
T |
A |
1: 24,096,515 (GRCm39) |
K77* |
probably null |
Het |
Fam209 |
T |
C |
2: 172,315,915 (GRCm39) |
S97P |
probably benign |
Het |
Fbxo11 |
A |
G |
17: 88,316,714 (GRCm39) |
V323A |
probably benign |
Het |
Fzd5 |
A |
G |
1: 64,775,498 (GRCm39) |
S88P |
probably damaging |
Het |
Galnt12 |
A |
T |
4: 47,104,140 (GRCm39) |
T133S |
probably damaging |
Het |
Gja8 |
A |
G |
3: 96,827,161 (GRCm39) |
L167P |
probably damaging |
Het |
Gm8730 |
T |
C |
8: 103,591,664 (GRCm39) |
|
noncoding transcript |
Het |
Gsdmd |
A |
G |
15: 75,737,939 (GRCm39) |
D247G |
probably benign |
Het |
Iqcg |
A |
G |
16: 32,840,909 (GRCm39) |
|
probably null |
Het |
Lamb1 |
C |
T |
12: 31,371,074 (GRCm39) |
A1375V |
probably null |
Het |
Mlip |
A |
G |
9: 77,097,662 (GRCm39) |
S282P |
probably damaging |
Het |
Nfxl1 |
A |
T |
5: 72,674,405 (GRCm39) |
D831E |
probably damaging |
Het |
Or6c212 |
A |
T |
10: 129,558,984 (GRCm39) |
V143D |
probably damaging |
Het |
Or7a39 |
T |
A |
10: 78,715,766 (GRCm39) |
Y253* |
probably null |
Het |
Pcdhb9 |
T |
C |
18: 37,534,654 (GRCm39) |
L216P |
possibly damaging |
Het |
Pigc |
G |
A |
1: 161,798,860 (GRCm39) |
G281R |
possibly damaging |
Het |
Polr3g |
C |
T |
13: 81,842,754 (GRCm39) |
R87H |
probably damaging |
Het |
Ppfia4 |
T |
C |
1: 134,241,449 (GRCm39) |
D502G |
probably benign |
Het |
Psg18 |
T |
A |
7: 18,088,748 (GRCm39) |
|
probably benign |
Het |
Rad9a |
G |
A |
19: 4,247,694 (GRCm39) |
R179C |
probably damaging |
Het |
Rxra |
A |
G |
2: 27,644,289 (GRCm39) |
D327G |
probably damaging |
Het |
Samd7 |
T |
C |
3: 30,805,283 (GRCm39) |
V22A |
possibly damaging |
Het |
Slc22a29 |
A |
T |
19: 8,195,973 (GRCm39) |
V22D |
possibly damaging |
Het |
Slmap |
C |
A |
14: 26,148,397 (GRCm39) |
R671S |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,665,755 (GRCm39) |
F751S |
possibly damaging |
Het |
Smarcb1 |
T |
A |
10: 75,752,620 (GRCm39) |
K73N |
probably benign |
Het |
Sptssa |
T |
C |
12: 54,703,180 (GRCm39) |
E30G |
probably damaging |
Het |
Stpg2 |
A |
G |
3: 139,023,238 (GRCm39) |
K418R |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,640,538 (GRCm39) |
I200V |
probably benign |
Het |
Tmem19 |
A |
G |
10: 115,195,675 (GRCm39) |
|
probably benign |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tmod1 |
T |
C |
4: 46,097,026 (GRCm39) |
V273A |
probably benign |
Het |
Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,221,588 (GRCm39) |
L43* |
probably null |
Het |
Vmn1r205 |
A |
T |
13: 22,776,671 (GRCm39) |
F144I |
probably damaging |
Het |
Vmn2r54 |
G |
A |
7: 12,366,223 (GRCm39) |
T237I |
probably benign |
Het |
Vmn2r7 |
A |
T |
3: 64,632,412 (GRCm39) |
F17I |
possibly damaging |
Het |
Vpreb3 |
G |
A |
10: 75,779,125 (GRCm39) |
|
probably null |
Het |
Vps13d |
T |
A |
4: 144,842,218 (GRCm39) |
|
probably benign |
Het |
Zkscan5 |
A |
T |
5: 145,157,723 (GRCm39) |
R742W |
probably damaging |
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 |
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 |
R6041:Nipbl
|
UTSW |
15 |
8,353,748 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|