|Institutional Source||Beutler Lab|
|Gene Name||X-ray repair complementing defective repair in Chinese hamster cells 4|
|Essential gene?||Possibly non essential (E-score: 0.447)|
|Stock #||R6262 (G1)|
|Chromosomal Location||89774027-90089608 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 89778787 bp (GRCm38)|
|Amino Acid Change||Methionine to Lysine at position 300 (M300K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000123934 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000159199]|
|AlphaFold||no structure available at present|
AA Change: M300K
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: M300K
|Meta Mutation Damage Score||0.0846|
|Coding Region Coverage||
|Validation Efficiency||97% (58/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternative splicing generates several transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mutants have massive neuronal apoptosis, growth retardation, hypoplastic thymus and die by embryonic day 17.5. Lethality is rescued by Trp53 deficiency, but double knockout mice die from pro-B-cell lymphomas with Myc-Igh translocations. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Xrcc4||
(F):5'- ATGAATAGCTGGCTGACCTGG -3'
(R):5'- GCCTTGCTTCAGAGAGAAACC -3'
(F):5'- CTGGGGCTGCTGGAAAGAATC -3'
(R):5'- CCGGATAATGTTTTCCCTAAG -3'