Plrg1 - SNV Details



 Gene Information 
Gene Name Plrg1
Old Gene Names for Plrg1 Aa958940 , C80566
Gene Description pleiotropic regulator 1, PRL1 homolog (Arabidopsis) [Source:MGI Symbol;Acc:MGI:1858197]
MGI phenotype Mice homozygous for a knock-out allele exhibit embryonic lethality by E1.5.
Uniprot Name
CCDS Name
Gene GO
RNA splicing
biological_process
catalytic step 2 spliceosome
mRNA processing
molecular_function
nuclear speck
nucleus
protein binding
spliceosomal complex
Homolog in other species PLRG1
Omim http://omim.org/entry/605961
Immgen Expression
HIGH(HIGHER IN MYELOID GROUP, DC GROUP, TGD GROUP)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM.G1, IMM.G3, OSTEO GROUP, M1, EMBRYONIC.STEM TISSUES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027998
Chromosome 3
Coordinate 83,068,119     (Assembly: GRCm38)    
Ref Base T
Codon Change gTg/gCg
Var Base C
Zygosity Heterozygous
Read Depth 11
Allele Frequency
T:0.45
C:0.55
Amino Acid Position 269
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL00948
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000114968:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
WD40-repeat-containing domain WD40_repeat_dom IPR017986 ENSMUSP00000114968 Prosite_profiles 199
498 Description available Search pathways
WD40-repeat-containing domain WD40_repeat_dom IPR017986 ENSMUSP00000114968 Superfamily 189
489 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved