F8 - SNV Details



 Human Rare Diseases 
Severe hemophilia A
Moderately severe hemophilia A
Mild hemophilia A
Symptomatic form of hemophilia A in female carriers

 Gene Information 
Gene Name F8
Old Gene Names for F8 Cf-8 , Cf8
Gene Description coagulation factor VIII [Source:MGI Symbol;Acc:MGI:88383]
MGI phenotype Male hemizygotes and female homozygotes for targeted null mutations produce no factor VIII, but are apparently healthy and fertile. However, affected mice show prolonged, exsanguinating bleeding following tail-clipping.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; oxidoreductase activity; cell adhesion; protein binding; platelet activation; copper ion binding; extracellular space; acute-phase response
Homolog in other species F8
Omim http://omim.org/entry/300841
Immgen Expression
MEDIAN
Gnf Expression
LOW
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031196
Chromosome X
Coordinate 75,379,598     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 25
Allele Frequency
C:R0.68
A:V0.32
Amino Acid Change S->I (Serine -> Isoleucine)
Sample ID IGL02505
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 70 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown

 Availability Details 
Availability Progeny Cryopreserved