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) question?
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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