Incidental Mutation 'R0244:Nbn'
ID 37952
Institutional Source Beutler Lab
Gene Symbol Nbn
Ensembl Gene ENSMUSG00000028224
Gene Name nibrin
Synonyms Nbs1
MMRRC Submission 038482-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0244 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 15957925-15992589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 15979353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 446 (W446L)
Ref Sequence ENSEMBL: ENSMUSP00000120829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029879] [ENSMUST00000149069]
AlphaFold Q9R207
Predicted Effect probably benign
Transcript: ENSMUST00000029879
AA Change: W446L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: W446L

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 probably benign
Transcript: ENSMUST00000149069
AA Change: W446L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: W446L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 99% (88/89)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,806,172 (GRCm39) C434* probably null Het
Adprhl1 A G 8: 13,292,391 (GRCm39) probably benign Het
Ago1 T A 4: 126,357,499 (GRCm39) I59F possibly damaging Het
Arel1 T C 12: 84,967,467 (GRCm39) T786A probably damaging Het
Arhgap26 A G 18: 39,496,184 (GRCm39) K117R probably benign Het
Atp6v0b C T 4: 117,741,819 (GRCm39) G204D probably damaging Het
Bace2 T A 16: 97,237,973 (GRCm39) probably null Het
Bltp2 T A 11: 78,177,317 (GRCm39) probably null Het
Camk4 G A 18: 33,312,678 (GRCm39) probably null Het
Cdh26 C T 2: 178,123,425 (GRCm39) R675C possibly damaging Het
Cep152 T C 2: 125,406,134 (GRCm39) E1466G probably benign Het
Ces3b T C 8: 105,819,267 (GRCm39) F441S probably damaging Het
Cfap52 T C 11: 67,817,208 (GRCm39) T562A possibly damaging Het
Clca3a2 C A 3: 144,519,659 (GRCm39) M238I possibly damaging Het
Cntnap5c A T 17: 58,409,163 (GRCm39) D467V probably damaging Het
Col7a1 T A 9: 108,801,252 (GRCm39) probably null Het
Cstf1 A G 2: 172,219,630 (GRCm39) N247S possibly damaging Het
Dffb G T 4: 154,059,072 (GRCm39) N68K probably benign Het
Dnaaf10 T C 11: 17,179,851 (GRCm39) L284P probably damaging Het
Duox2 C T 2: 122,122,341 (GRCm39) G595S probably benign Het
Eftud2 T A 11: 102,755,551 (GRCm39) I228F probably damaging Het
Elmo3 T C 8: 106,035,803 (GRCm39) V578A probably benign Het
Elp2 A G 18: 24,764,528 (GRCm39) D625G possibly damaging Het
Ep300 C T 15: 81,524,329 (GRCm39) P1386S unknown Het
Fam120b A G 17: 15,637,899 (GRCm39) D610G probably damaging Het
Fastk A T 5: 24,647,176 (GRCm39) probably benign Het
Fbxl6 A G 15: 76,421,391 (GRCm39) S252P probably damaging Het
Fbxo43 T C 15: 36,161,939 (GRCm39) K423E probably damaging Het
Filip1 T A 9: 79,726,744 (GRCm39) E625V possibly damaging Het
Fkbp9 T A 6: 56,833,363 (GRCm39) Y283* probably null Het
Gigyf2 T A 1: 87,306,737 (GRCm39) D142E possibly damaging Het
Gm10142 T C 10: 77,551,848 (GRCm39) probably null Het
Golga5 T C 12: 102,442,447 (GRCm39) V262A probably benign Het
Hectd4 T C 5: 121,467,668 (GRCm39) V2539A probably benign Het
Ica1 G T 6: 8,653,632 (GRCm39) S335* probably null Het
Itga1 A T 13: 115,143,433 (GRCm39) probably benign Het
Itgb1 T C 8: 129,444,166 (GRCm39) probably benign Het
Itpr1 G A 6: 108,450,550 (GRCm39) V1960I probably benign Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kprp C T 3: 92,732,718 (GRCm39) V111I probably benign Het
Lamc3 T C 2: 31,830,733 (GRCm39) I1490T probably damaging Het
Lcp1 A T 14: 75,464,441 (GRCm39) D554V possibly damaging Het
Lgi3 A G 14: 70,772,138 (GRCm39) T228A probably benign Het
Lipa A T 19: 34,478,941 (GRCm39) F260I probably damaging Het
Lrriq1 C T 10: 103,051,634 (GRCm39) E373K probably damaging Het
Map6 G A 7: 98,986,043 (GRCm39) G649D probably benign Het
Mccc1 A G 3: 36,044,196 (GRCm39) probably null Het
Mical3 A T 6: 120,934,683 (GRCm39) S1799T probably benign Het
Mmp23 T A 4: 155,736,589 (GRCm39) T151S probably damaging Het
Myo1d T A 11: 80,565,534 (GRCm39) N401I probably damaging Het
Myo9b T A 8: 71,774,457 (GRCm39) S323T probably damaging Het
Nedd1 A T 10: 92,552,127 (GRCm39) probably benign Het
Ngef C A 1: 87,415,684 (GRCm39) probably benign Het
Nup153 A T 13: 46,847,412 (GRCm39) N672K probably benign Het
Or10d1b T A 9: 39,613,469 (GRCm39) I199F probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or4e2 T C 14: 52,687,969 (GRCm39) V33A probably benign Het
Or4f57 T C 2: 111,791,361 (GRCm39) N19S probably benign Het
Pakap T G 4: 57,710,177 (GRCm39) V374G possibly damaging Het
Pdlim3 C A 8: 46,361,497 (GRCm39) probably benign Het
Pmfbp1 G A 8: 110,268,305 (GRCm39) E951K probably damaging Het
Pop1 T A 15: 34,516,037 (GRCm39) C548* probably null Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Ptpdc1 A T 13: 48,739,456 (GRCm39) N658K probably benign Het
Ptprk A C 10: 28,082,221 (GRCm39) E63D possibly damaging Het
Rtf1 C T 2: 119,563,358 (GRCm39) R712W probably damaging Het
Samd7 A C 3: 30,805,222 (GRCm39) T2P probably benign Het
Sft2d1 A G 17: 8,538,254 (GRCm39) T52A probably benign Het
Slc25a26 A G 6: 94,487,814 (GRCm39) H91R probably damaging Het
Slc5a4a A G 10: 76,024,986 (GRCm39) E621G possibly damaging Het
Slf1 A T 13: 77,274,751 (GRCm39) L28* probably null Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Sorcs2 G A 5: 36,554,897 (GRCm39) probably benign Het
Tacc2 T C 7: 130,353,555 (GRCm39) probably benign Het
Tas2r140 A G 6: 133,032,290 (GRCm39) V156A possibly damaging Het
Terf2ip C A 8: 112,744,796 (GRCm39) T371K possibly damaging Het
Tifa C T 3: 127,590,537 (GRCm39) L103F probably damaging Het
Tmco3 A G 8: 13,342,037 (GRCm39) N104D probably damaging Het
Tmem259 T A 10: 79,814,797 (GRCm39) D240V probably damaging Het
Trim60 C T 8: 65,453,700 (GRCm39) R183H probably benign Het
Trps1 T C 15: 50,528,139 (GRCm39) N725D probably damaging Het
Ttn C T 2: 76,645,150 (GRCm39) V12902M probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Unc79 A G 12: 103,079,150 (GRCm39) K1772E probably damaging Het
Vwde C T 6: 13,193,125 (GRCm39) V405I probably benign Het
Wdr18 T A 10: 79,802,242 (GRCm39) D290E probably damaging Het
Wwc2 G A 8: 48,353,756 (GRCm39) A126V probably benign Het
Zfp882 A T 8: 72,667,367 (GRCm39) I105F possibly damaging Het
Zfp942 A T 17: 22,147,553 (GRCm39) C359S probably benign 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
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
R1579:Nbn UTSW 4 15,964,289 (GRCm39) missense probably damaging 0.99
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'- AGAAGTAAAGATCCCTGGACTGGAACAA -3'
(R):5'- acaacaacaaAAAACAAACCTGAGATGGAA -3'

Sequencing Primer
(F):5'- CCTGGACTGGAACAAAGCTC -3'
(R):5'- ctctctctctctctctctctctc -3'
Posted On 2013-05-23