Helb - SNV Details



 Gene Information 
Gene Name Helb
Old Gene Names for Helb D10ertd664e , Ai447783
Gene Description helicase (DNA) B [Source:MGI Symbol;Acc:MGI:2152895]
Uniprot Name
CCDS Name
Gene GO
DNA-dependent DNA replication; ATP-dependent 5'-3' DNA helicase activity; alpha DNA polymerase:primase complex; single-stranded DNA-dependent ATP-dependent DNA helicase activity; DNA replication; sequence-specific DNA binding transcription factor activity; steroid hormone receptor activity; ATP-dependent DNA helicase activity; DNA replication
synthesis of RNA primer; nucleus; DNA duplex unwinding; ATP binding
Homolog in other species HELB
Omim http://omim.org/entry/614539
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM.G1, IMM.G3, OSTEO GROUP, M1, EMBRYONIC.STEM TISSUES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020228
Chromosome 10
Coordinate 120,105,424     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 31
Allele Frequency
A:R0.55
G:V0.45
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL00516
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability