|Institutional Source||Beutler Lab|
|Gene Name||RAD50 double strand break repair protein|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4836 (G1)|
|Chromosomal Location||53649519-53707319 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 53650653 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 1252 (I1252N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020649 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020649]|
|Predicted Effect||probably damaging
AA Change: I1252N
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: I1252N
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||98% (87/89)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygotes for a targeted hypomorphic mutation exhibit growth defects, predisposition toward cancer, progressive loss of hematopoietic and spermatogenic stem cells, and lethality due to bone marrow depletion. A null mutation results in embryonic death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rad50||
(F):5'- ACACATGGTTCCCGTCACAC -3'
(R):5'- TAGGTTGAAGGCCTCAGCTCTC -3'
(F):5'- TCCTTCCCAAGACAAGTTAGTG -3'
(R):5'- GAAGGCCTCAGCTCTCCTCTG -3'