Pkd1 - SNV Details



 Human Rare Diseases 
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

 Gene Information 
Gene Name Pkd1
Gene Description polycystic kidney disease 1 homolog [Source:MGI Symbol;Acc:MGI:97603]
MGI phenotype Homozygous mutant embryos begin to die after embryonic day (E) 14.5. They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5. Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life.
Uniprot Name
CCDS Name
Gene GO
basolateral plasma membrane
binding
membrane
neuropeptide signaling pathway
protein binding
protein domain specific binding
Homolog in other species PKD1
Omim http://omim.org/entry/601313
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN C2C12, M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032855
Chromosome 17
Coordinate 24,571,627     (Assembly: GRCm38)    
Ref Base T
Codon Change tTa/tAa
Var Base A
Zygosity Heterozygous
Read Depth 61
Allele Frequency
T:0.44
A:0.56
Amino Acid Position 1025
Amino Acid Change L->Stop (Leucine -> Stop)
Sample ID IGL00924
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Protein domains 
ENSMUSP00000049296:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Polycystin cation channel Polycystin_cat IPR006228 ENSMUSP00000049296 TIGRfam 97
2723 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved