Herc1 - SNV Details

 Gene Information 
Gene Name Herc1
Old Gene Names for Herc1 2810449h11rik , D130015n03rik
Gene Description hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 [Source:MGI Symbol;Acc:MGI:2384589]
MGI phenotype Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.
Uniprot Name
Gene GO
intracellular; acid-amino acid ligase activity; cellular protein modification process; ubiquitin-protein ligase activity; protein binding; cellular_component; biological_process; molecular_function
Homolog in other species HERC1
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038664
Chromosome 9
Coordinate 66,483,699     (Assembly: GRCm38)    
Ref Base T
Codon Change Tct/Cct
Var Base C
Zygosity Heterozygous
Read Depth 61
Allele Frequency
Amino Acid Position 3980
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL01360
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.03
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved