|Institutional Source||Beutler Lab|
|Gene Name||DNA replication helicase/nuclease 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7508 (G1)|
|Chromosomal Location||62947026-62974185 bp(+) (GRCm38)|
|Type of Mutation||splice site (3 bp from exon)|
|DNA Base Change (assembly)||A to G at 62971993 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000115750 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000092462] [ENSMUST00000131422]|
|Predicted Effect||probably benign
|Predicted Effect||probably null
|Meta Mutation Damage Score||0.9351|
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality before E7.5. Mice heterozygous for the allele exhibit shortened telomeres, chromosome segregation errors and increased tumor incidence associated with aneuploidy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dna2||
(F):5'- GGAAGTTTCCTTTTGCCCCAG -3'
(R):5'- ATCCCTGCATACGCTAGTCC -3'
(F):5'- CTTTTGCCCCAGCTCGG -3'
(R):5'- TGCATACGCTAGTCCCAGATG -3'