Hus1 - SNV Details



 Gene Information 
Gene Name Hus1
Gene Description Hus1 homolog (S. pombe) [Source:MGI Symbol;Acc:MGI:1277962]
MGI phenotype Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities.
Uniprot Name
CCDS Name
Gene GO
checkpoint clamp complex; cellular response to ionizing radiation; DNA damage checkpoint; DNA repair; negative regulation of DNA replication; protein binding; nucleus; double-strand break repair via homologous recombination; protein phosphorylation; response to DNA damage stimulus; mitotic cell cycle G1/S transition checkpoint; response to UV; nucleolus; embryo development; regulation of protein phosphorylation; Golgi apparatus
Homolog in other species HUS1
Omim http://omim.org/entry/603760
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020413
Chromosome 11
Coordinate 9,000,088     (Assembly: GRCm38)    
Ref Base T
Codon Change aAc/aGc
Var Base C
Zygosity Heterozygous
Read Depth 59
Allele Frequency
T:R0.51
C:V0.49
Amino Acid Position 211
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL01974
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.07
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved