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
ubiquitin-protein transferase activity; cerebellar Purkinje cell differentiation; protein binding; protein ubiquitination; neuron projection development; neuromuscular process controlling balance; negative regulation of autophagy; cellular_component; ligase activity; 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 66,388,823     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 11
Allele Frequency
T:R0.64
C:V0.36
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02963
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved