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
CCDS 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
HIGH
Gnf Expression
HIGH
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038664
Chromosome 9
Coordinate 66,450,983     (Assembly: GRCm38)    
Ref Base A
Codon Change Agt/Ggt
Var Base G
Zygosity Heterozygous
Read Depth 48
Allele Frequency
A:R0.54
G:V0.46
Amino Acid Position 2449
Amino Acid Change S->G (Serine -> Glycine)
Sample ID IGL02074
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.44
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved