Pkhd1l1 - SNV Details



 Gene Information 
Gene Name Pkhd1l1
Old Gene Names for Pkhd1l1 Ab055648
Gene Description polycystic kidney and hepatic disease 1-like 1 [Source:MGI Symbol;Acc:MGI:2183153]
Uniprot Name
CCDS Name
Gene GO
protein binding; integral component of membrane; cellular_component; biological_process; hydrolase activity
acting on carbon-nitrogen (but not peptide) bonds; molecular_function
Homolog in other species PKHD1L1
Omim http://omim.org/entry/607843
Immgen Expression
LOW
Gnf Expression
MEDIAN
MEDIAN
MEDIAN
MEDIAN
HIGH
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038725
Chromosome 15
Coordinate 44,501,531     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 23
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Change Y->H (Tyrosine -> Histidine)
Sample ID IGL02944
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved