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 66,487,997     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 28
Allele Frequency
A:R0.36
T:V0.64
Amino Acid Change M->L (Methionine -> Leucine)
Sample ID IGL03101
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved