Incidental Mutation 'R1579:Nbn'
ID 171273
Institutional Source Beutler Lab
Gene Symbol Nbn
Ensembl Gene ENSMUSG00000028224
Gene Name nibrin
Synonyms Nbs1
MMRRC Submission 039616-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1579 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 15957925-15992589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15964289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 121 (D121E)
Ref Sequence ENSEMBL: ENSMUSP00000029879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029879] [ENSMUST00000149069]
AlphaFold Q9R207
Predicted Effect probably damaging
Transcript: ENSMUST00000029879
AA Change: D121E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: D121E

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
FHA 23 83 2.27e-4 SMART
BRCT 103 184 6.37e0 SMART
Pfam:NIBRIN_BRCT_II 216 325 2.2e-34 PFAM
low complexity region 557 565 N/A INTRINSIC
Nbs1_C 680 744 2.14e-34 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000149069
AA Change: D121E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: D121E

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
FHA 23 83 2.27e-4 SMART
BRCT 103 184 6.37e0 SMART
PDB:2K2W|A 217 326 3e-32 PDB
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted mutations exhibit phenotypes ranging from impaired extraembryonic tissue growth and early embryonic death to growth retardation, lymphoid defects, lymphoma susceptibility, and failure of oogenesis. Null heterozygotes are cancer prone. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T C 16: 3,724,039 (GRCm39) R162G probably benign Het
Adamtsl4 T A 3: 95,592,807 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,711,898 (GRCm39) L306H probably damaging Het
Aknad1 T A 3: 108,659,452 (GRCm39) Y155* probably null Het
Aldh6a1 C T 12: 84,488,622 (GRCm39) R88H possibly damaging Het
Apc2 G C 10: 80,147,179 (GRCm39) K715N probably damaging Het
Arhgap45 G A 10: 79,864,811 (GRCm39) V798M probably damaging Het
Calcrl T C 2: 84,163,881 (GRCm39) T437A probably benign Het
Cdan1 A G 2: 120,561,220 (GRCm39) F183L probably damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cntnap4 A G 8: 113,608,462 (GRCm39) E1294G possibly damaging Het
Crybg3 C A 16: 59,350,561 (GRCm39) G2607V probably damaging Het
Dhx29 G T 13: 113,072,132 (GRCm39) probably null Het
Dmrtb1 T A 4: 107,541,322 (GRCm39) H13L probably damaging Het
Echdc2 A G 4: 108,031,006 (GRCm39) M162V probably benign Het
Entpd8 A G 2: 24,974,986 (GRCm39) D439G possibly damaging Het
Fastkd2 C G 1: 63,785,046 (GRCm39) H477Q probably null Het
Fbrs A G 7: 127,084,529 (GRCm39) E517G probably damaging Het
Gchfr A G 2: 119,002,502 (GRCm39) T71A possibly damaging Het
Hecw1 A T 13: 14,552,492 (GRCm39) C35S probably damaging Het
Izumo1r C T 9: 14,813,098 (GRCm39) R58H probably benign Het
Kif13a T C 13: 46,906,332 (GRCm39) E537G possibly damaging Het
Kif13b G A 14: 65,019,790 (GRCm39) probably null Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Lnpk A T 2: 74,378,340 (GRCm39) D140E probably damaging Het
Ltbp1 A G 17: 75,559,362 (GRCm39) M284V probably benign Het
Me3 A T 7: 89,495,050 (GRCm39) T323S possibly damaging Het
Mtus1 A G 8: 41,535,895 (GRCm39) V607A probably damaging Het
Myh14 A T 7: 44,305,118 (GRCm39) probably null Het
Myo1h T A 5: 114,485,496 (GRCm39) C545* probably null Het
Nox4 A G 7: 87,019,231 (GRCm39) Y408C probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or10q1b A G 19: 13,682,566 (GRCm39) D125G probably damaging Het
Or52d3 T A 7: 104,229,268 (GRCm39) Y138* probably null Het
Or5w20 G A 2: 87,727,286 (GRCm39) A248T probably benign Het
Osbpl5 T C 7: 143,262,939 (GRCm39) T150A possibly damaging Het
Pgap3 C A 11: 98,280,879 (GRCm39) M265I probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkd2l2 A T 18: 34,560,446 (GRCm39) N351I possibly damaging Het
Prkdc T A 16: 15,493,192 (GRCm39) Y700N probably benign Het
Pzp A G 6: 128,500,931 (GRCm39) probably null Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rptor A T 11: 119,786,827 (GRCm39) Q1264L probably benign Het
Scnn1a T C 6: 125,299,103 (GRCm39) F61S probably damaging Het
Tenm2 C A 11: 35,997,610 (GRCm39) W825C probably damaging Het
Tex264 A T 9: 106,559,116 (GRCm39) I70N possibly damaging Het
Tns2 G T 15: 102,019,645 (GRCm39) D504Y probably damaging Het
Trappc14 T C 5: 138,260,128 (GRCm39) I338V probably benign Het
Trpc2 T A 7: 101,733,447 (GRCm39) F132Y probably damaging Het
Trpm4 A G 7: 44,958,021 (GRCm39) F816S probably damaging Het
Uqcc1 G A 2: 155,763,641 (GRCm39) Q5* probably null Het
Usp36 G T 11: 118,175,771 (GRCm39) T130N probably damaging Het
Vav1 A G 17: 57,604,252 (GRCm39) M165V probably benign Het
Vmn1r64 A T 7: 5,886,803 (GRCm39) F247I probably damaging Het
Vmn2r26 G C 6: 124,016,706 (GRCm39) R390P probably benign Het
Vmn2r57 G T 7: 41,049,548 (GRCm39) H734N probably benign Het
Wfdc16 G T 2: 164,477,843 (GRCm39) H69N possibly damaging Het
Zfp316 C T 5: 143,239,317 (GRCm39) E901K probably damaging Het
Zfp334 T C 2: 165,223,719 (GRCm39) E108G probably damaging Het
Zfp407 T C 18: 84,227,763 (GRCm39) S1949G probably benign Het
Zfp408 A G 2: 91,476,473 (GRCm39) L227P probably benign Het
Zfp560 T C 9: 20,259,287 (GRCm39) H525R possibly damaging Het
Zfp609 G A 9: 65,611,754 (GRCm39) A403V possibly damaging Het
Other mutations in Nbn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Nbn APN 4 15,964,320 (GRCm39) missense probably benign 0.01
IGL00921:Nbn APN 4 15,963,833 (GRCm39) missense possibly damaging 0.85
IGL01621:Nbn APN 4 15,965,221 (GRCm39) missense probably benign 0.45
IGL02372:Nbn APN 4 15,986,613 (GRCm39) missense probably benign 0.00
IGL03392:Nbn APN 4 15,962,362 (GRCm39) missense probably damaging 1.00
nebish UTSW 4 15,965,132 (GRCm39) critical splice acceptor site probably null
zenobia UTSW 4 15,969,391 (GRCm39) missense probably damaging 1.00
R0238:Nbn UTSW 4 15,986,672 (GRCm39) splice site probably benign
R0244:Nbn UTSW 4 15,979,353 (GRCm39) missense probably benign 0.00
R0432:Nbn UTSW 4 15,983,951 (GRCm39) unclassified probably benign
R0946:Nbn UTSW 4 15,970,719 (GRCm39) critical splice acceptor site probably null
R1076:Nbn UTSW 4 15,970,719 (GRCm39) critical splice acceptor site probably null
R1563:Nbn UTSW 4 15,981,668 (GRCm39) missense possibly damaging 0.77
R1660:Nbn UTSW 4 15,971,771 (GRCm39) missense probably benign 0.06
R1663:Nbn UTSW 4 15,970,903 (GRCm39) missense probably benign 0.13
R2005:Nbn UTSW 4 15,979,351 (GRCm39) missense probably benign 0.01
R2010:Nbn UTSW 4 15,969,393 (GRCm39) missense probably damaging 1.00
R2077:Nbn UTSW 4 15,979,389 (GRCm39) missense probably damaging 1.00
R2228:Nbn UTSW 4 15,970,904 (GRCm39) missense probably benign 0.01
R2229:Nbn UTSW 4 15,970,904 (GRCm39) missense probably benign 0.01
R2356:Nbn UTSW 4 15,970,863 (GRCm39) missense probably damaging 0.96
R2869:Nbn UTSW 4 15,963,810 (GRCm39) missense probably damaging 1.00
R2869:Nbn UTSW 4 15,963,810 (GRCm39) missense probably damaging 1.00
R3508:Nbn UTSW 4 15,962,387 (GRCm39) missense probably damaging 1.00
R3745:Nbn UTSW 4 15,976,163 (GRCm39) missense possibly damaging 0.67
R3753:Nbn UTSW 4 15,964,269 (GRCm39) missense probably damaging 0.98
R4756:Nbn UTSW 4 15,981,470 (GRCm39) missense probably benign 0.00
R5042:Nbn UTSW 4 15,981,446 (GRCm39) missense probably benign 0.10
R5177:Nbn UTSW 4 15,965,132 (GRCm39) critical splice acceptor site probably null
R5229:Nbn UTSW 4 15,963,893 (GRCm39) missense probably damaging 0.98
R5368:Nbn UTSW 4 15,969,391 (GRCm39) missense probably damaging 1.00
R5431:Nbn UTSW 4 15,986,593 (GRCm39) missense probably benign
R6025:Nbn UTSW 4 15,981,347 (GRCm39) missense probably damaging 0.97
R6375:Nbn UTSW 4 15,979,327 (GRCm39) missense probably benign
R6543:Nbn UTSW 4 15,986,605 (GRCm39) missense probably benign 0.39
R6655:Nbn UTSW 4 15,981,696 (GRCm39) missense probably damaging 0.98
R6965:Nbn UTSW 4 15,970,863 (GRCm39) missense probably benign 0.25
R7090:Nbn UTSW 4 15,981,350 (GRCm39) missense probably benign 0.06
R7159:Nbn UTSW 4 15,983,677 (GRCm39) splice site probably null
R7241:Nbn UTSW 4 15,991,190 (GRCm39) missense probably benign 0.00
R7267:Nbn UTSW 4 15,979,320 (GRCm39) missense probably benign 0.00
R7597:Nbn UTSW 4 15,963,911 (GRCm39) missense probably damaging 1.00
R7937:Nbn UTSW 4 15,958,080 (GRCm39) missense probably damaging 0.99
R8110:Nbn UTSW 4 15,981,588 (GRCm39) missense probably benign 0.02
R8317:Nbn UTSW 4 15,970,893 (GRCm39) missense probably damaging 0.96
R8327:Nbn UTSW 4 15,981,470 (GRCm39) missense probably benign 0.00
R8725:Nbn UTSW 4 15,963,911 (GRCm39) missense probably damaging 1.00
R8727:Nbn UTSW 4 15,963,911 (GRCm39) missense probably damaging 1.00
R8747:Nbn UTSW 4 15,981,555 (GRCm39) missense probably damaging 0.96
R8909:Nbn UTSW 4 15,970,833 (GRCm39) missense probably damaging 1.00
R8973:Nbn UTSW 4 15,986,585 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCCTGACAAGTGTAACAGGGAAC -3'
(R):5'- GCCTATAACGGAGGGCAAACTGAC -3'

Sequencing Primer
(F):5'- AACAGGGAACTCAGCTTGTTTG -3'
(R):5'- ACTGACGGAACTTGATCTGAAC -3'
Posted On 2014-04-13