|Institutional Source||Beutler Lab|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6543 (G1)|
|Chromosomal Location||15957925-15992589 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 15986605 bp|
|Amino Acid Change||Serine to Proline at position 669 (S669P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029879 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029879]|
|Predicted Effect||probably benign
AA Change: S669P
PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: S669P
|Meta Mutation Damage Score||0.0664|
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted mutations exhibit phenotypes ranging from impaired extraembryonic tissue growth and early embryonic death to growth retardation, lymphoid defects, lymphoma susceptibility, and failure of oogenesis. Null heterozygotes are cancer prone. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nbn||
(F):5'- CAGGTGCCAGAAACAACTCTG -3'
(R):5'- TCTGTTTGGCGCAGAAGAAATAG -3'
(F):5'- AACAACTCTGTTTTCCCTTGGG -3'
(R):5'- CTCTGGCGACACAGTTAAT -3'