Patl2 - SNV Details



 Gene Information 
Gene Name Patl2
Old Gene Names for Patl2 4930424g05rik
Gene Description protein associated with topoisomerase II homolog 2 (yeast) [Source:MGI Symbol;Acc:MGI:1914828]
Uniprot Name
CCDS Name
Gene GO
negative regulation of translation; RNA binding; negative regulation of cytoplasmic mRNA processing body assembly; cytoplasm; poly(G) RNA binding; translation repressor activity; protein binding; G-quadruplex RNA binding; cytoplasmic mRNA processing body; nucleus; ribonucleoprotein complex; poly(U) RNA binding
Homolog in other species PATL2
Omim http://omim.org/entry/614661
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027233
Chromosome 2
Coordinate 122,121,846     (Assembly: GRCm38)    
Ref Base A
Codon Change agT/agG
Var Base C
Zygosity Heterozygous
Read Depth 20
Allele Frequency
A:R0.65
C:V0.35
Amino Acid Position 468
Amino Acid Change S->R (Serine -> Arginine)
Sample ID IGL01780
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved