Pkd1l1 - SNV Details



 Gene Information 
Gene Name Pkd1l1
Old Gene Names for Pkd1l1 Aa444596
Gene Description polycystic kidney disease 1 like 1 [Source:MGI Symbol;Acc:MGI:2156538]
MGI phenotype Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.
Uniprot Name
CCDS Name
Gene GO
protein binding; nonmotile primary cilium; calcium channel complex
Homolog in other species PKD1L1
Omim http://omim.org/entry/609721
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000046634
Chromosome 11
Coordinate 8,863,908     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 33
Allele Frequency
C:R0.64
T:V0.36
Amino Acid Change R->Q (Arginine -> Glutamine)
Sample ID IGL02972
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved