Incidental Mutation 'R1778:Nipbl'
ID |
197276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nipbl
|
Ensembl Gene |
ENSMUSG00000022141 |
Gene Name |
NIPBL cohesin loading factor |
Synonyms |
4933421G18Rik, 4921518A06Rik |
MMRRC Submission |
039809-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R1778 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
8320101-8473947 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 8348972 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 1920
(M1920R)
|
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: M1920R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000059385 Gene: ENSMUSG00000022141 AA Change: M1920R
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 |
0.8744 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.3%
|
Validation Efficiency |
98% (107/109) |
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 |
4930432E11Rik |
T |
C |
7: 29,260,131 (GRCm39) |
|
noncoding transcript |
Het |
4930568D16Rik |
A |
G |
2: 35,244,995 (GRCm39) |
M119T |
probably damaging |
Het |
Aadacl2 |
A |
G |
3: 59,924,871 (GRCm39) |
|
probably null |
Het |
Abca9 |
C |
T |
11: 110,021,542 (GRCm39) |
W1056* |
probably null |
Het |
Adam20 |
A |
C |
8: 41,249,698 (GRCm39) |
T603P |
possibly damaging |
Het |
Adgrl1 |
T |
C |
8: 84,656,666 (GRCm39) |
L323P |
probably damaging |
Het |
Afap1l2 |
C |
T |
19: 56,904,638 (GRCm39) |
E628K |
possibly damaging |
Het |
Ahctf1 |
A |
T |
1: 179,580,580 (GRCm39) |
L1874Q |
possibly damaging |
Het |
Ak8 |
A |
G |
2: 28,602,333 (GRCm39) |
E89G |
probably benign |
Het |
Aldh16a1 |
G |
A |
7: 44,796,732 (GRCm39) |
R256C |
probably damaging |
Het |
Anxa5 |
G |
A |
3: 36,519,480 (GRCm39) |
T3M |
probably damaging |
Het |
Arhgef16 |
T |
C |
4: 154,372,443 (GRCm39) |
K210E |
probably benign |
Het |
Baz2b |
T |
C |
2: 59,836,480 (GRCm39) |
T18A |
unknown |
Het |
Bub1 |
A |
C |
2: 127,645,042 (GRCm39) |
I960M |
possibly damaging |
Het |
Cbln2 |
G |
T |
18: 86,731,272 (GRCm39) |
D27Y |
probably benign |
Het |
Ces2h |
C |
A |
8: 105,741,239 (GRCm39) |
P77Q |
possibly damaging |
Het |
Cfap410 |
G |
T |
10: 77,818,778 (GRCm39) |
A150S |
probably benign |
Het |
Chga |
T |
A |
12: 102,527,959 (GRCm39) |
M150K |
probably benign |
Het |
Chmp3 |
A |
G |
6: 71,554,791 (GRCm39) |
E162G |
probably benign |
Het |
Clip3 |
A |
G |
7: 29,996,861 (GRCm39) |
N161S |
probably damaging |
Het |
Col12a1 |
T |
A |
9: 79,511,867 (GRCm39) |
|
probably benign |
Het |
Cuedc2 |
C |
T |
19: 46,320,079 (GRCm39) |
G105D |
probably benign |
Het |
Cyp2j7 |
A |
C |
4: 96,087,627 (GRCm39) |
F428V |
probably damaging |
Het |
Ddx60 |
A |
G |
8: 62,427,210 (GRCm39) |
I762V |
possibly damaging |
Het |
Def6 |
G |
A |
17: 28,439,160 (GRCm39) |
R257Q |
probably benign |
Het |
Dkkl1 |
A |
T |
7: 44,860,819 (GRCm39) |
|
probably null |
Het |
Dnah3 |
A |
G |
7: 119,677,625 (GRCm39) |
L433P |
probably damaging |
Het |
Eif2s3y |
C |
T |
Y: 1,011,287 (GRCm39) |
R33C |
probably benign |
Het |
Elavl2 |
T |
A |
4: 91,141,715 (GRCm39) |
Y269F |
probably damaging |
Het |
Esco2 |
A |
G |
14: 66,068,711 (GRCm39) |
S200P |
possibly damaging |
Het |
Fcrl1 |
T |
A |
3: 87,292,626 (GRCm39) |
|
probably benign |
Het |
Fhod1 |
C |
A |
8: 106,056,309 (GRCm39) |
D1135Y |
probably damaging |
Het |
Fnbp1l |
T |
C |
3: 122,383,796 (GRCm39) |
N41D |
possibly damaging |
Het |
Folh1 |
A |
T |
7: 86,410,907 (GRCm39) |
|
probably null |
Het |
Fpr-rs7 |
T |
C |
17: 20,334,277 (GRCm39) |
D71G |
probably damaging |
Het |
Gm10271 |
A |
G |
10: 116,797,844 (GRCm39) |
|
probably benign |
Het |
Gm4841 |
A |
T |
18: 60,404,020 (GRCm39) |
Y24* |
probably null |
Het |
Greb1 |
G |
A |
12: 16,740,895 (GRCm39) |
R1396C |
probably benign |
Het |
Hectd1 |
C |
T |
12: 51,800,590 (GRCm39) |
C2076Y |
probably damaging |
Het |
Hnrnpu |
A |
G |
1: 178,152,806 (GRCm39) |
|
probably benign |
Het |
Ice2 |
T |
C |
9: 69,322,930 (GRCm39) |
I475T |
probably benign |
Het |
Ifit1bl1 |
T |
A |
19: 34,571,593 (GRCm39) |
Q288L |
probably damaging |
Het |
Ift56 |
T |
A |
6: 38,386,411 (GRCm39) |
D377E |
possibly damaging |
Het |
Ik |
T |
C |
18: 36,889,871 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
C |
T |
12: 25,063,445 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,577,972 (GRCm39) |
D768G |
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,697,362 (GRCm39) |
T87A |
probably damaging |
Het |
Lama5 |
G |
A |
2: 179,837,274 (GRCm39) |
|
probably benign |
Het |
Lmbr1l |
A |
G |
15: 98,810,357 (GRCm39) |
S85P |
probably damaging |
Het |
Lrig2 |
A |
G |
3: 104,374,682 (GRCm39) |
|
probably benign |
Het |
Lrig3 |
A |
G |
10: 125,845,944 (GRCm39) |
D791G |
probably damaging |
Het |
Lrrc2 |
G |
A |
9: 110,809,908 (GRCm39) |
V315M |
probably benign |
Het |
Lrrc4b |
A |
G |
7: 44,111,823 (GRCm39) |
D565G |
probably benign |
Het |
Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
Msrb2 |
T |
A |
2: 19,388,114 (GRCm39) |
D87E |
probably benign |
Het |
Muc20 |
T |
C |
16: 32,614,511 (GRCm39) |
T289A |
possibly damaging |
Het |
Myo15a |
C |
A |
11: 60,369,238 (GRCm39) |
P666Q |
possibly damaging |
Het |
Nfat5 |
C |
T |
8: 108,088,421 (GRCm39) |
P579L |
probably damaging |
Het |
Nuak1 |
T |
C |
10: 84,210,738 (GRCm39) |
|
probably null |
Het |
Nup210l |
A |
G |
3: 90,096,793 (GRCm39) |
E1334G |
probably damaging |
Het |
Odad2 |
A |
T |
18: 7,127,388 (GRCm39) |
C942S |
probably damaging |
Het |
Or52e8b |
A |
T |
7: 104,673,370 (GRCm39) |
N272K |
probably benign |
Het |
Or5an1c |
T |
A |
19: 12,218,819 (GRCm39) |
I69F |
probably benign |
Het |
Or6c6c |
T |
C |
10: 129,541,574 (GRCm39) |
Y276H |
probably benign |
Het |
Or9s13 |
G |
A |
1: 92,548,342 (GRCm39) |
G238E |
possibly damaging |
Het |
Or9s14 |
A |
T |
1: 92,535,831 (GRCm39) |
N91Y |
possibly damaging |
Het |
P4ha3 |
A |
T |
7: 99,949,898 (GRCm39) |
|
probably null |
Het |
Pbld2 |
C |
T |
10: 62,890,150 (GRCm39) |
A186V |
probably benign |
Het |
Pcdh18 |
A |
T |
3: 49,710,083 (GRCm39) |
Y411N |
probably benign |
Het |
Pgf |
A |
G |
12: 85,218,541 (GRCm39) |
S70P |
probably benign |
Het |
Phrf1 |
T |
A |
7: 140,812,369 (GRCm39) |
D44E |
probably benign |
Het |
Pla2g4a |
A |
G |
1: 149,778,196 (GRCm39) |
|
probably benign |
Het |
Plce1 |
A |
G |
19: 38,769,234 (GRCm39) |
|
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,493,278 (GRCm39) |
N1851S |
probably benign |
Het |
Prl7a2 |
G |
A |
13: 27,843,254 (GRCm39) |
T183I |
probably damaging |
Het |
Prxl2b |
A |
T |
4: 154,981,814 (GRCm39) |
V151D |
probably damaging |
Het |
Ptger4 |
A |
T |
15: 5,264,576 (GRCm39) |
L335H |
probably damaging |
Het |
Ptgr1 |
A |
G |
4: 58,984,865 (GRCm39) |
|
probably benign |
Het |
Rdh7 |
A |
G |
10: 127,720,590 (GRCm39) |
S261P |
probably benign |
Het |
Reg3a |
A |
G |
6: 78,360,269 (GRCm39) |
T150A |
probably benign |
Het |
Rnf111 |
A |
G |
9: 70,383,394 (GRCm39) |
S180P |
probably benign |
Het |
Rnf17 |
A |
G |
14: 56,759,856 (GRCm39) |
M1554V |
probably damaging |
Het |
Rnf215 |
T |
A |
11: 4,085,873 (GRCm39) |
Y117* |
probably null |
Het |
Rnps1-ps |
A |
T |
6: 7,983,124 (GRCm39) |
|
noncoding transcript |
Het |
Rogdi |
T |
C |
16: 4,828,369 (GRCm39) |
T165A |
probably benign |
Het |
Rpe65 |
A |
G |
3: 159,328,485 (GRCm39) |
Y431C |
probably damaging |
Het |
Scube1 |
A |
G |
15: 83,494,405 (GRCm39) |
F844S |
probably damaging |
Het |
Sdr16c6 |
T |
A |
4: 4,058,814 (GRCm39) |
E257D |
probably benign |
Het |
Sim1 |
C |
A |
10: 50,857,649 (GRCm39) |
C466* |
probably null |
Het |
Spi1 |
T |
A |
2: 90,929,867 (GRCm39) |
H46Q |
probably damaging |
Het |
Sumf2 |
C |
A |
5: 129,873,909 (GRCm39) |
|
probably benign |
Het |
Tbcb |
A |
G |
7: 29,931,037 (GRCm39) |
Y28H |
probably benign |
Het |
Tecta |
C |
T |
9: 42,254,927 (GRCm39) |
C1752Y |
probably damaging |
Het |
Tep1 |
T |
C |
14: 51,067,079 (GRCm39) |
|
probably benign |
Het |
Tmem245 |
A |
T |
4: 56,903,968 (GRCm39) |
W591R |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,902,548 (GRCm39) |
I1134V |
probably benign |
Het |
Trappc14 |
T |
C |
5: 138,260,739 (GRCm39) |
|
probably null |
Het |
Trim13 |
G |
T |
14: 61,843,068 (GRCm39) |
A362S |
probably benign |
Het |
Trim47 |
T |
A |
11: 116,000,646 (GRCm39) |
D134V |
probably damaging |
Het |
Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
Vnn1 |
G |
T |
10: 23,775,415 (GRCm39) |
A222S |
possibly damaging |
Het |
Wdr17 |
A |
G |
8: 55,143,249 (GRCm39) |
W110R |
probably damaging |
Het |
Wwp1 |
G |
T |
4: 19,627,892 (GRCm39) |
Y700* |
probably null |
Het |
Zbtb21 |
T |
C |
16: 97,751,785 (GRCm39) |
S661G |
probably benign |
Het |
Zfp955b |
A |
G |
17: 33,521,788 (GRCm39) |
K419R |
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 |
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 |
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'- TTAGGCCCCAGATGTCCCAGAAAG -3'
(R):5'- gcacacacacacacacaGAGACATA -3'
Sequencing Primer
(F):5'- CCAGATGTCCCAGAAAGGGAAG -3'
(R):5'- cagttccagcacccatacc -3'
|
Posted On |
2014-05-23 |