Tfpi - SNV Details



 Gene Information 
Gene Name Tfpi
Old Gene Names for Tfpi A630013f22rik , Aw552122
Gene Description tissue factor pathway inhibitor [Source:MGI Symbol;Acc:MGI:1095418]
MGI phenotype Homozygous mutant embryos die showing hemorrhages of the yolk sac, central nervous system, and tail.
Uniprot Name
CCDS Name
Gene GO
peptidase inhibitor activity; serine-type endopeptidase inhibitor activity; blood coagulation; negative regulation of peptidase activity; extracellular region; extracellular space
Homolog in other species TFPI
Omim http://omim.org/entry/152310
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000027082
Chromosome 2
Coordinate 84,452,548     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 52
Allele Frequency
A:R0.65
G:V0.35
Amino Acid Change Disrupted splicing
Splice Position 9
Sample ID IGL02434
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved