Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a1 |
T |
A |
19: 20,617,442 (GRCm39) |
M458K |
probably benign |
Het |
Atic |
C |
T |
1: 71,598,428 (GRCm39) |
R64C |
probably damaging |
Het |
Atp7b |
C |
T |
8: 22,484,792 (GRCm39) |
V1307M |
possibly damaging |
Het |
Bbx |
C |
A |
16: 50,040,882 (GRCm39) |
R707L |
probably damaging |
Het |
Ccdc28b |
A |
T |
4: 129,514,445 (GRCm39) |
|
probably null |
Het |
Gm21136 |
T |
A |
7: 38,567,258 (GRCm39) |
T57S |
probably damaging |
Het |
Gm5862 |
G |
A |
5: 26,224,490 (GRCm39) |
L160F |
probably damaging |
Het |
Gpsm3 |
A |
G |
17: 34,809,534 (GRCm39) |
T47A |
possibly damaging |
Het |
Grip1 |
T |
C |
10: 119,814,401 (GRCm39) |
Y311H |
probably benign |
Het |
Inpp4b |
T |
A |
8: 82,768,607 (GRCm39) |
N705K |
probably benign |
Het |
Lingo1 |
T |
A |
9: 56,526,910 (GRCm39) |
I560F |
probably benign |
Het |
Man2b2 |
A |
G |
5: 36,965,219 (GRCm39) |
V958A |
probably benign |
Het |
Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
Or14j9 |
A |
G |
17: 37,874,602 (GRCm39) |
V200A |
probably benign |
Het |
Phf19 |
C |
T |
2: 34,785,807 (GRCm39) |
R554Q |
probably benign |
Het |
Pramel24 |
T |
A |
4: 143,453,395 (GRCm39) |
Y168N |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Trpm8 |
A |
G |
1: 88,282,171 (GRCm39) |
D689G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,703,094 (GRCm39) |
|
probably benign |
Het |
Wrnip1 |
G |
A |
13: 32,990,941 (GRCm39) |
R400H |
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 |
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 |
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 |
|