Wrn - SNV Details

 Human Rare Diseases 
Werner syndrome

 Gene Information 
Gene Name Wrn
Old Gene Names for Wrn Ai846146
Gene Description Werner syndrome homolog (human) [Source:MGI Symbol;Acc:MGI:109635]
MGI phenotype Homozygous mutants show enhanced frequency and variety of tumors in conjunction with Trp53 knockout alleles. Homozygotes also have an elevated frequency of somatic reversion of the pink-eyed dilution unstable mutation.
Uniprot Name
Gene GO
nucleoplasm; ATPase activity; helicase activity; DNA synthesis involved in DNA repair; Y-form DNA binding; DNA metabolic process; catalytic activity; positive regulation of hydrolase activity; 3'-5' DNA helicase activity; ATP-dependent helicase activity; response to oxidative stress; four-way junction helicase activity; DNA repair; intracellular; replicative cell aging; DNA replication; multicellular organismal aging; cellular metabolic process; nucleobase-containing compound metabolic process; DNA binding; DNA helicase activity; protein homodimerization activity; cellular response to starvation; manganese ion binding; protein binding; ATP-dependent DNA helicase activity; regulation of growth rate; nucleus; telomere maintenance; DNA duplex unwinding; cell aging; replication fork processing; magnesium ion binding; nucleolus to nucleoplasm transport; DNA recombination; response to DNA damage stimulus; exonuclease activity; nucleotide binding; protein complex binding; MutLalpha complex; G-quadruplex DNA binding; nucleic acid binding; ATP-dependent 3'-5' DNA helicase activity; ATP binding; base-excision repair; bubble DNA binding; nucleolus; regulation of apoptotic process; ATP catabolic process; response to UV-C; 3'-5' exonuclease activity; centrosome
Homolog in other species WRN
Omim http://omim.org/entry/604611
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031583
Chromosome 8
Coordinate 33,257,224     (Assembly: GRCm38)    
Ref Base T
Codon Change Atc/Ttc
Var Base A
Zygosity Heterozygous
Read Depth 23
Allele Frequency
Amino Acid Position 1110
Amino Acid Change I->F (Isoleucine -> Phenylalanine)
Sample ID IGL01916
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

Polyphen Score 0.76
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved