Pf4 - SNV Details



 Gene Information 
Gene Name Pf4
Old Gene Names for Pf4 Cxcl4
Gene Description platelet factor 4 [Source:MGI Symbol;Acc:MGI:1888711]
MGI phenotype Homozygous and heterozygous null mice display increased platelet counts and reduced thrombus formation following vascular injury.
Uniprot Name
CCDS Name
Gene GO
immune response; vesicle; cytokine-mediated signaling pathway; protein complex assembly; protein complex; platelet alpha granule; platelet activation; heparin binding; extracellular region; chemokine activity; leukocyte chemotaxis; negative regulation of megakaryocyte differentiation; negative regulation of angiogenesis; extracellular space
Homolog in other species PF4
Omim http://omim.org/entry/173460
Immgen Expression
LOW/MEDIAN(HIGH IN MF.THIO5.II-480HI.PC)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029373
Chromosome 5
Coordinate 90,773,255     (Assembly: GRCm38)    
Ref Base A
Codon Change Agt/Ggt
Var Base G
Zygosity Heterozygous
Read Depth 29
Allele Frequency
A:R0.41
G:V0.59
Amino Acid Position 105
Amino Acid Change S->G (Serine -> Glycine)
Sample ID IGL02105
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 0.74
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000031320:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Chemokine interleukin-8-like domain Chemokine_IL8-like_dom IPR001811 ENSMUSP00000031320 Superfamily 21
105 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved