Incidental Mutation 'R4672:Nipbl'
| ID |
348569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nipbl
|
| Ensembl Gene |
ENSMUSG00000022141 |
| Gene Name |
NIPBL cohesin loading factor |
| Synonyms |
4933421G18Rik, 4921518A06Rik |
| MMRRC Submission |
041927-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R4672 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
8320101-8473947 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8332468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 2263
(D2263V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052965]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052965
AA Change: D2263V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059385
Gene: ENSMUSG00000022141
AA Change: D2263V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
639 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1081 |
1097 |
N/A |
INTRINSIC |
|
low complexity region
|
1102 |
1107 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1139 |
N/A |
INTRINSIC |
|
low complexity region
|
1165 |
1176 |
N/A |
INTRINSIC |
|
low complexity region
|
1389 |
1396 |
N/A |
INTRINSIC |
|
low complexity region
|
1577 |
1586 |
N/A |
INTRINSIC |
|
coiled coil region
|
1628 |
1656 |
N/A |
INTRINSIC |
|
Pfam:Cohesin_HEAT
|
1788 |
1829 |
1.1e-14 |
PFAM |
|
Pfam:Nipped-B_C
|
2269 |
2450 |
2.8e-68 |
PFAM |
|
low complexity region
|
2477 |
2501 |
N/A |
INTRINSIC |
|
low complexity region
|
2502 |
2512 |
N/A |
INTRINSIC |
|
low complexity region
|
2538 |
2550 |
N/A |
INTRINSIC |
|
low complexity region
|
2626 |
2632 |
N/A |
INTRINSIC |
|
low complexity region
|
2660 |
2684 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3883 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (113/115) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice are embryonic lethal. Heterozygous null mice are growth-retarded and show various skeletal anomalies. Heterozygotes for a gene-trap allele are small and show craniofacial, heart, eye, hearing and behavioral defects, delayed bone maturation, reduced body fat, and postnatal mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,962,702 (GRCm39) |
L483F |
possibly damaging |
Het |
| Abca8b |
A |
G |
11: 109,827,274 (GRCm39) |
F1507L |
possibly damaging |
Het |
| Adamdec1 |
C |
A |
14: 68,815,353 (GRCm39) |
E104* |
probably null |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Alppl2 |
T |
C |
1: 87,017,187 (GRCm39) |
|
probably benign |
Het |
| Aplnr |
A |
G |
2: 84,967,524 (GRCm39) |
Y183C |
probably damaging |
Het |
| Atm |
G |
A |
9: 53,433,501 (GRCm39) |
R250W |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,757,132 (GRCm39) |
L275P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,944,139 (GRCm39) |
*330W |
probably null |
Het |
| Ccdc178 |
G |
A |
18: 22,283,501 (GRCm39) |
Q10* |
probably null |
Het |
| Ccr9 |
T |
C |
9: 123,608,752 (GRCm39) |
Y145H |
probably damaging |
Het |
| Cd209f |
C |
T |
8: 4,153,685 (GRCm39) |
G188D |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,136,365 (GRCm39) |
S23T |
possibly damaging |
Het |
| Cpped1 |
C |
A |
16: 11,623,238 (GRCm39) |
E294* |
probably null |
Het |
| Crisp1 |
T |
A |
17: 40,605,404 (GRCm39) |
|
probably null |
Het |
| Disp1 |
T |
C |
1: 182,880,215 (GRCm39) |
|
probably null |
Het |
| Dlg2 |
A |
T |
7: 91,935,743 (GRCm39) |
M624L |
probably damaging |
Het |
| Elf2 |
A |
G |
3: 51,163,855 (GRCm39) |
V558A |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,743,109 (GRCm39) |
D209G |
probably damaging |
Het |
| Fam187b |
G |
A |
7: 30,676,968 (GRCm39) |
R159H |
probably damaging |
Het |
| Fh1 |
G |
A |
1: 175,431,617 (GRCm39) |
A423V |
probably benign |
Het |
| Frg1 |
C |
T |
8: 41,853,846 (GRCm39) |
D164N |
probably benign |
Het |
| Fsbp |
T |
G |
4: 11,579,841 (GRCm39) |
N36K |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,744,579 (GRCm39) |
T1592A |
probably damaging |
Het |
| Gimap3 |
A |
G |
6: 48,742,687 (GRCm39) |
I81T |
probably damaging |
Het |
| Gjb6 |
C |
T |
14: 57,362,235 (GRCm39) |
V9I |
probably benign |
Het |
| Gkap1 |
T |
C |
13: 58,411,770 (GRCm39) |
S68G |
possibly damaging |
Het |
| Gpatch8 |
A |
T |
11: 102,369,784 (GRCm39) |
S1251R |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,664,981 (GRCm39) |
F92L |
possibly damaging |
Het |
| H2-Q1 |
C |
A |
17: 35,539,906 (GRCm39) |
D58E |
probably damaging |
Het |
| Hs1bp3 |
G |
T |
12: 8,391,983 (GRCm39) |
G362* |
probably null |
Het |
| Igfn1 |
T |
A |
1: 135,893,107 (GRCm39) |
H2114L |
possibly damaging |
Het |
| Igkv12-98 |
A |
G |
6: 68,547,940 (GRCm39) |
Q22R |
probably benign |
Het |
| Ing3 |
A |
G |
6: 21,965,729 (GRCm39) |
|
probably null |
Het |
| Insr |
C |
T |
8: 3,217,501 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,941,630 (GRCm39) |
S374P |
probably benign |
Het |
| Kif14 |
A |
C |
1: 136,449,016 (GRCm39) |
Q1472P |
probably benign |
Het |
| Kif14 |
G |
T |
1: 136,449,017 (GRCm39) |
Q1472H |
probably benign |
Het |
| Knstrn |
A |
G |
2: 118,664,512 (GRCm39) |
E202G |
probably damaging |
Het |
| Knstrn |
G |
T |
2: 118,664,513 (GRCm39) |
E202D |
possibly damaging |
Het |
| Krt12 |
A |
G |
11: 99,309,509 (GRCm39) |
|
probably benign |
Het |
| Lgi3 |
A |
T |
14: 70,771,897 (GRCm39) |
I195F |
possibly damaging |
Het |
| Lima1 |
T |
C |
15: 99,741,590 (GRCm39) |
N29D |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,802,806 (GRCm39) |
I88V |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,929,120 (GRCm39) |
S86P |
probably benign |
Het |
| Lsamp |
A |
G |
16: 41,775,697 (GRCm39) |
R166G |
probably damaging |
Het |
| Mamdc2 |
T |
A |
19: 23,328,148 (GRCm39) |
N407Y |
probably damaging |
Het |
| Mast3 |
CATA |
CA |
8: 71,237,441 (GRCm39) |
|
probably null |
Het |
| Megf6 |
T |
A |
4: 154,333,909 (GRCm39) |
N212K |
probably damaging |
Het |
| Met |
A |
C |
6: 17,571,803 (GRCm39) |
D1374A |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,233,923 (GRCm39) |
T902A |
probably benign |
Het |
| Mroh3 |
T |
A |
1: 136,118,713 (GRCm39) |
T535S |
probably benign |
Het |
| Muc1 |
G |
T |
3: 89,139,384 (GRCm39) |
V595L |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,079,303 (GRCm39) |
L957Q |
probably damaging |
Het |
| Myorg |
T |
A |
4: 41,499,061 (GRCm39) |
M190L |
probably benign |
Het |
| Ncl |
A |
T |
1: 86,284,324 (GRCm39) |
D257E |
probably benign |
Het |
| Optc |
C |
A |
1: 133,825,555 (GRCm39) |
V324L |
possibly damaging |
Het |
| Or4k15 |
A |
G |
14: 50,364,714 (GRCm39) |
N227D |
probably benign |
Het |
| Or4k42 |
A |
T |
2: 111,319,902 (GRCm39) |
N200K |
possibly damaging |
Het |
| Or7g35 |
A |
G |
9: 19,496,726 (GRCm39) |
K298E |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,921,806 (GRCm39) |
I604T |
possibly damaging |
Het |
| Otog |
C |
A |
7: 45,939,210 (GRCm39) |
A2080D |
probably damaging |
Het |
| Parp6 |
G |
C |
9: 59,547,393 (GRCm39) |
R460P |
probably damaging |
Het |
| Phactr4 |
G |
T |
4: 132,098,017 (GRCm39) |
P417Q |
probably damaging |
Het |
| Pigt |
T |
C |
2: 164,339,498 (GRCm39) |
|
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,470,655 (GRCm39) |
I99V |
probably damaging |
Het |
| Plxna3 |
T |
G |
X: 73,382,554 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
G |
A |
9: 50,779,019 (GRCm39) |
M362I |
probably damaging |
Het |
| Pramel34 |
T |
A |
5: 93,784,182 (GRCm39) |
R230S |
probably damaging |
Het |
| Rad51 |
A |
G |
2: 118,954,327 (GRCm39) |
I136V |
probably benign |
Het |
| Rad54b |
T |
A |
4: 11,609,449 (GRCm39) |
H633Q |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,071,231 (GRCm39) |
F41S |
probably benign |
Het |
| Reep3 |
T |
A |
10: 66,857,629 (GRCm39) |
H154L |
probably benign |
Het |
| Rp1l1 |
T |
G |
14: 64,268,719 (GRCm39) |
V1435G |
probably damaging |
Het |
| Rps6ka5 |
C |
A |
12: 100,620,546 (GRCm39) |
K125N |
possibly damaging |
Het |
| Rsad1 |
A |
T |
11: 94,434,444 (GRCm39) |
M330K |
probably damaging |
Het |
| Scand1 |
A |
G |
2: 156,153,850 (GRCm39) |
|
probably null |
Het |
| Setd6 |
A |
G |
8: 96,444,640 (GRCm39) |
H111R |
probably null |
Het |
| Slc27a3 |
T |
C |
3: 90,294,953 (GRCm39) |
N368S |
possibly damaging |
Het |
| Slc38a2 |
T |
C |
15: 96,596,518 (GRCm39) |
T32A |
probably benign |
Het |
| Smg7 |
A |
G |
1: 152,721,164 (GRCm39) |
S683P |
probably damaging |
Het |
| Smyd2 |
A |
T |
1: 189,642,101 (GRCm39) |
L62M |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 143,779,075 (GRCm39) |
Y687C |
probably damaging |
Het |
| Spaca6 |
T |
A |
17: 18,057,005 (GRCm39) |
C53* |
probably null |
Het |
| Spata31e4 |
T |
C |
13: 50,857,208 (GRCm39) |
Y949H |
probably benign |
Het |
| Spire2 |
T |
C |
8: 124,084,850 (GRCm39) |
V230A |
probably benign |
Het |
| Sptbn2 |
G |
T |
19: 4,782,524 (GRCm39) |
V487L |
probably benign |
Het |
| Stk3 |
T |
A |
15: 35,099,603 (GRCm39) |
I110L |
probably benign |
Het |
| Stox2 |
T |
A |
8: 47,645,141 (GRCm39) |
Y773F |
probably damaging |
Het |
| Tbrg1 |
C |
A |
9: 37,562,632 (GRCm39) |
A259S |
probably damaging |
Het |
| Tnfsf18 |
C |
A |
1: 161,331,307 (GRCm39) |
D152E |
probably benign |
Het |
| Tpr |
G |
A |
1: 150,299,318 (GRCm39) |
A1173T |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,722,290 (GRCm39) |
L271P |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,657,419 (GRCm39) |
|
probably benign |
Het |
| U2surp |
A |
G |
9: 95,375,198 (GRCm39) |
S192P |
possibly damaging |
Het |
| Ubr4 |
C |
T |
4: 139,138,027 (GRCm39) |
S1128L |
probably damaging |
Het |
| Ucma |
G |
A |
2: 4,981,465 (GRCm39) |
|
probably null |
Het |
| Urb1 |
A |
T |
16: 90,569,522 (GRCm39) |
D1401E |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,631,597 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,056 (GRCm39) |
Y270H |
probably damaging |
Het |
| Vmn1r90 |
T |
A |
7: 14,295,493 (GRCm39) |
T202S |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,655,612 (GRCm39) |
Y616C |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,672,413 (GRCm39) |
W717R |
probably damaging |
Het |
| Zcchc4 |
C |
A |
5: 52,953,947 (GRCm39) |
T209K |
probably benign |
Het |
| Zfp955b |
T |
A |
17: 33,524,233 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGTGCCGTTGCCATAAG -3'
(R):5'- ATCTACAGCTATAGCAGGAGGG -3'
Sequencing Primer
(F):5'- AGCCTTGCTTACCTGAACCGG -3'
(R):5'- GTTTTCAAAGAGCCTCTGACACAGTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation