F5 - SNV Details



 Human Rare Diseases 
Congenital factor V deficiency
Budd-Chiari syndrome

 Gene Information 
Gene Name F5
Old Gene Names for F5 Cf5 , Cf-5 , Ai173222
Gene Description coagulation factor V [Source:MGI Symbol;Acc:MGI:88382]
Uniprot Name
CCDS Name
Gene GO
membrane; cell adhesion; endoplasmic reticulum; blood coagulation; protein binding; platelet alpha granule; extracellular region; copper ion binding; proteolysis; serine-type endopeptidase activity; blood circulation; extracellular space; Golgi apparatus
Homolog in other species F5
Omim http://omim.org/entry/612309
Immgen Expression
LOW(HIGH IN GN.BM, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, SMALLINTESTINE)
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026579
Chromosome 1
Coordinate 164,194,021     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 57
Allele Frequency
A:R0.39
T:V0.61
Amino Acid Change D->V (Aspartic acid -> Valine)
Sample ID IGL02977
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved