Incidental Mutation 'R4204:Nhej1'
ID 318811
Institutional Source Beutler Lab
Gene Symbol Nhej1
Ensembl Gene ENSMUSG00000026162
Gene Name non-homologous end joining factor 1
Synonyms 1700029B21Rik, cernunnos, XLF
MMRRC Submission 041033-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R4204 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 75006505-75101870 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75085782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 6 (I6N)
Ref Sequence ENSEMBL: ENSMUSP00000116797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000152855]
AlphaFold Q3KNJ2
Predicted Effect probably damaging
Transcript: ENSMUST00000152855
AA Change: I6N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116797
Gene: ENSMUSG00000026162
AA Change: I6N

DomainStartEndE-ValueType
Pfam:XLF 1 56 7.2e-10 PFAM
Meta Mutation Damage Score 0.6550 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (46/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: ES cells that are null homozygous are sensitive to ionizing radiation and have defects in DNA repair. Lymphocyte numbers are modestly decreased in null homozygous mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,090,369 (GRCm39) K360R probably benign Het
Ano7 A G 1: 93,308,200 (GRCm39) D77G probably benign Het
B130006D01Rik A G 11: 95,617,250 (GRCm39) probably benign Het
BC028528 A T 3: 95,797,057 (GRCm39) Y37* probably null Het
Ccdc171 A T 4: 83,599,392 (GRCm39) M736L probably benign Het
Ccdc88a A G 11: 29,413,399 (GRCm39) K646E probably damaging Het
Fam83b T C 9: 76,410,335 (GRCm39) T192A probably benign Het
Hgs C A 11: 120,368,013 (GRCm39) P241T probably damaging Het
Itga4 T C 2: 79,109,505 (GRCm39) Y235H probably damaging Het
Kank2 A G 9: 21,706,923 (GRCm39) Y32H probably damaging Het
Kprp A C 3: 92,732,046 (GRCm39) S335A probably damaging Het
Lgals9 C T 11: 78,860,642 (GRCm39) probably benign Het
Mfrp G A 9: 44,016,525 (GRCm39) G407S possibly damaging Het
Mfsd9 C T 1: 40,820,670 (GRCm39) G160R probably damaging Het
Mrtfb A T 16: 13,221,119 (GRCm39) Q776L possibly damaging Het
Mtcl1 T C 17: 66,745,256 (GRCm39) Y35C probably damaging Het
Npy5r G T 8: 67,134,693 (GRCm39) Y33* probably null Het
Or4c120 A G 2: 89,001,124 (GRCm39) V144A probably benign Het
Pcdha8 G C 18: 37,127,737 (GRCm39) V740L probably damaging Het
Pde8b C A 13: 95,359,053 (GRCm39) C90F probably benign Het
Pex14 T C 4: 149,047,984 (GRCm39) T198A probably benign Het
Ppp2r2b T A 18: 42,871,115 (GRCm39) H62L probably benign Het
Prodh A G 16: 17,890,182 (GRCm39) V553A probably damaging Het
Rasgef1c G A 11: 49,849,535 (GRCm39) V137M probably benign Het
Resf1 C T 6: 149,231,042 (GRCm39) R1363* probably null Het
Rgl2 G T 17: 34,155,906 (GRCm39) V694L probably benign Het
Rnf133 T C 6: 23,649,048 (GRCm39) N294D probably benign Het
Rpe65 G A 3: 159,310,047 (GRCm39) A107T probably damaging Het
Sacs A G 14: 61,410,892 (GRCm39) R56G possibly damaging Het
Serp2 A G 14: 76,793,902 (GRCm39) I18T probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sis T C 3: 72,868,415 (GRCm39) I92V probably benign Het
Tcaim A G 9: 122,662,683 (GRCm39) K417R probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tmem132c A G 5: 127,640,829 (GRCm39) D1000G possibly damaging Het
Trpm3 T A 19: 22,964,928 (GRCm39) D1474E probably benign Het
Ubxn2a T C 12: 4,944,593 (GRCm39) E43G probably damaging Het
Utp14b G A 1: 78,642,539 (GRCm39) E146K probably benign Het
Zfp800 C T 6: 28,243,180 (GRCm39) S595N probably benign Het
Other mutations in Nhej1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03187:Nhej1 APN 1 75,007,420 (GRCm39) missense possibly damaging 0.93
R3845:Nhej1 UTSW 1 75,008,042 (GRCm39) missense probably benign 0.45
R8032:Nhej1 UTSW 1 75,007,959 (GRCm39) missense probably benign
R8263:Nhej1 UTSW 1 75,006,896 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TAAGACTCTTGGACTCCCCACC -3'
(R):5'- TGGACCACAAAGAAAATCTCTTGG -3'

Sequencing Primer
(F):5'- ACCCATTCCTCTGAGAATGC -3'
(R):5'- CATGTACATGAATTGCTTGTCT -3'
Posted On 2015-06-10