Prdm1 - SNV Details



 Gene Information 
Gene Name Prdm1
Old Gene Names for Prdm1 Blimp1
Gene Description PR domain containing 1, with ZNF domain [Source:MGI Symbol;Acc:MGI:99655]
MGI phenotype Homozygous null mice display embryonic lethality and impaired primordial germ cell development, while heterozygotes display a decreased numbers of primordial germ cells but normal migration. Conditional mutants display impaired plasma cell and pre-plasma memory B cell development.
Uniprot Name
CCDS Name
Gene GO
negative regulation of gene expression; sequence-specific DNA binding; cytoplasm; metal ion binding; germ cell development; negative regulation of B cell proliferation; eye photoreceptor cell development; cell fate commitment; methylation; protein binding; intestinal epithelial cell development; nucleus; post-embryonic development; in utero embryonic development; histone deacetylase binding; embryonic placenta development; trophoblast giant cell differentiation; methyltransferase activity; negative regulation of transcription from RNA polymerase II promoter; maternal placenta development; positive regulation of B cell differentiation; negative regulation of lipopolysaccharide-mediated signaling pathway; positive regulation of gene expression; transcription
DNA-templated
Homolog in other species PRDM1
Omim http://omim.org/entry/603423
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, T.4MEM.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN RETINA, UMBLICALCORD, DIGIS, EPIDERMIS TISSUES,TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038151
Chromosome 10
Coordinate 44,439,870     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 30
Allele Frequency
T:R0.57
C:V0.43
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL03295
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved