|Institutional Source||Beutler Lab|
|Gene Name||X-ray repair complementing defective repair in Chinese hamster cells 5|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8892 (G1)|
|Chromosomal Location||72307421-72394952 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 72343031 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 455 (D455E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027379 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027379]|
AA Change: D455E
PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: D455E
|Coding Region Coverage||
|Validation Efficiency||100% (76/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants are defective in DNA double-strand break repair and show impaired growth and severe combined immunodeficiency due to defective assembly of TCRs and immunoglobulins. Mutants die early with osteopenia, atrophic skin and hepatic abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Xrcc5||
(F):5'- AGGCCAAGTACTTACACAGC -3'
(R):5'- CGTGTTTCCATACAGCAGTTGAC -3'
(F):5'- CTTACACAGCTAGGGAATACTTTGGC -3'
(R):5'- TACAGCAGTTGACCTATGGC -3'