Hectd1 - SNV Details



 Gene Information 
Gene Name Hectd1
Old Gene Names for Hectd1 Ai844876 , A630086p08rik
Gene Description HECT domain containing 1 [Source:MGI Symbol;Acc:MGI:2384768]
MGI phenotype Mice homozygous for a null mutation display perinatal lethality, exencephaly, impaired neural fold elevation, abnormal head mesenchyme morhology, and defects in eye and cranial vault morphology.
Uniprot Name
CCDS Name
Gene GO
ubiquitin-protein transferase activity; cytoplasm; metal ion binding; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein binding; protein ubiquitination; binding; nucleus; neural tube closure; ligase activity
Homolog in other species HECTD1
Immgen Expression
HIGH(LOWER IN DC.LC.SK)
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
HIGH
Gnf Expression
MEDIAN
HIGH(LOWER IN PANCREAS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035247
Chromosome 12
Coordinate 51,759,309     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 18
Allele Frequency
A:R0.56
G:V0.44
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL00576
Median Base Quality 36.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 25 Other Mutations

 Predictions 
Polyphen Score 0.69
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved