Pkhd1 - SNV Details



 Human Rare Diseases 
Autosomal recessive polycystic kidney disease

 Gene Information 
Gene Name Pkhd1
Old Gene Names for Pkhd1 Ai118496 , Ai182499
Gene Description polycystic kidney and hepatic disease 1 [Source:MGI Symbol;Acc:MGI:2155808]
MGI phenotype Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts.
Uniprot Name
CCDS Name
Gene GO
mitotic spindle; perinuclear region of cytoplasm; apical plasma membrane; cytoplasm; negative regulation of apoptotic process; negative regulation of NF-kappaB transcription factor activity; cilium assembly; protein binding; kidney development; negative regulation of protein kinase B signaling; extracellular vesicular exosome; regulation of TOR signaling; primary cilium; regulation of centrosome duplication; regulation of ERK1 and ERK2 cascade; cellular calcium ion homeostasis; positive regulation of cell proliferation; ciliary basal body; centrosome
Homolog in other species PKHD1
Omim http://omim.org/entry/606702
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000043760
Chromosome 1
Coordinate 20,522,699     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 13
Allele Frequency
A:R0.31
G:V0.69
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL03037
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 66 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved