Smim6,Recql5 - SNV Details



 Gene Information 
Gene Name Smim6 , Recql5
Old Gene Names for Smim6 1110017f19rik
Gene Description RecQ protein-like 5 [Source:MGI Symbol;Acc:MGI:2156841],small integral membrane protein 6 [Source:MGI Symbol;Acc:MGI:1915778]
MGI phenotype Mice homozygous for disruptions in this gene express elevated levels of sister chromatid exchange due to a failure to suppress crossovers.,NO_PHENOTYPE
Uniprot Name
CCDS Name
Gene GO
helicase activity; mitotic nuclear division; chromosome separation; hydrolase activity; cytoplasm; ATP-dependent helicase activity; DNA repair; DNA replication; DNA binding; DNA helicase activity; metabolic process; nucleus; RNA polymerase II core binding; DNA duplex unwinding; DNA-directed RNA polymerase II
holoenzyme; negative regulation of transcription elongation from RNA polymerase II promoter; DNA recombination; nucleic acid binding; ATP binding; nucleolus; ATP catabolic process; nuclear membrane
cellular_component; biological_process; molecular_function
Homolog in other species NO_HOMOLOG,RECQL5
Omim NO_OMIM,http://omim.org/entry/603781
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP),NO_IMMGEN
Gnf Expression
NO_GNF,LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020752
Chromosome 11
Coordinate 115,913,488     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 37
Allele Frequency
A:R0.54
T:V0.46
Amino Acid Change T->S (Threonine -> Serine)
Sample ID IGL03170
Median Base Quality 33
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 0.62
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved