Incidental Mutation 'IGL03187:Nhej1'
ID 412501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nhej1
Ensembl Gene ENSMUSG00000026162
Gene Name non-homologous end joining factor 1
Synonyms 1700029B21Rik, cernunnos, XLF
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # IGL03187
Quality Score
Status
Chromosome 1
Chromosomal Location 75006505-75101870 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75007420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 111 (S111P)
Ref Sequence ENSEMBL: ENSMUSP00000116797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000152855]
AlphaFold Q3KNJ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000152855
AA Change: S111P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116797
Gene: ENSMUSG00000026162
AA Change: S111P

DomainStartEndE-ValueType
Pfam:XLF 1 56 7.2e-10 PFAM
Coding Region Coverage
Validation Efficiency
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbx G A 16: 50,094,926 (GRCm39) T130I probably damaging Het
Cdkl2 A G 5: 92,165,239 (GRCm39) probably null Het
Clrn1 A G 3: 58,753,854 (GRCm39) V169A probably damaging Het
Erbb3 A G 10: 128,408,463 (GRCm39) probably benign Het
Gucy2g A C 19: 55,219,484 (GRCm39) I379M possibly damaging Het
Hps5 A T 7: 46,422,631 (GRCm39) L533Q probably damaging Het
Kansl1l T A 1: 66,765,062 (GRCm39) K749N probably damaging Het
Krt6b G T 15: 101,588,392 (GRCm39) F89L probably benign Het
Myh1 T C 11: 67,097,351 (GRCm39) F439L possibly damaging Het
Neb G A 2: 52,059,100 (GRCm39) H213Y probably damaging Het
Or4k1 G T 14: 50,377,257 (GRCm39) P280T probably damaging Het
Pcdh15 G A 10: 74,191,706 (GRCm39) V601M probably damaging Het
Ripor3 A G 2: 167,827,588 (GRCm39) V621A possibly damaging Het
Smarca2 A G 19: 26,650,224 (GRCm39) N732S probably damaging Het
Stx18 G A 5: 38,284,327 (GRCm39) E170K possibly damaging Het
Syde1 A T 10: 78,424,943 (GRCm39) I356N possibly damaging Het
Tex2 C T 11: 106,458,903 (GRCm39) probably benign Het
Vmn2r50 T G 7: 9,771,368 (GRCm39) T778P probably damaging Het
Zfp709 T G 8: 72,643,126 (GRCm39) I184S probably benign Het
Other mutations in Nhej1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3845:Nhej1 UTSW 1 75,008,042 (GRCm39) missense probably benign 0.45
R4204:Nhej1 UTSW 1 75,085,782 (GRCm39) missense probably damaging 0.98
R8032:Nhej1 UTSW 1 75,007,959 (GRCm39) missense probably benign
R8263:Nhej1 UTSW 1 75,006,896 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02