Palld - SNV Details



 Gene Information 
Gene Name Palld
Old Gene Names for Palld 2410003b16rik
Gene Description palladin, cytoskeletal associated protein [Source:MGI Symbol;Acc:MGI:1919583]
MGI phenotype All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin.
Uniprot Name
CCDS Name
Gene GO
actin filament; protein binding; ruffle; nucleus; lamellipodium; Z disc; BLOC-1 complex; actin binding; focal adhesion
Homolog in other species PALLD
Omim http://omim.org/entry/608092
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EMB GROUP, EPITH GROUP, SALIVARYGLAND, THYROID, PLACENTA, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000058056
Chromosome 8
Coordinate 61,877,478     (Assembly: GRCm38)    
Ref Base T
Codon Change Aaa/Gaa
Var Base C
Zygosity Heterozygous
Read Depth 54
Allele Frequency
T:R0.44
C:V0.54
Amino Acid Position 122
Amino Acid Change K->E (Lysine -> Glutamic acid)
Sample ID IGL01644
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 22 Other Mutations

 Predictions 
Polyphen Score 0.28
Polyphen Prediction Benign
Sift Score 0.37
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved