F13b - SNV Details



 Human Rare Diseases 
Congenital factor XIII deficiency

 Gene Information 
Gene Name F13b
Old Gene Names for F13b Cf13b , Cf-13b
Gene Description coagulation factor XIII, beta subunit [Source:MGI Symbol;Acc:MGI:88379]
Uniprot Name
CCDS Name
Gene GO
blood coagulation; cellular_component; extracellular region; biological_process; molecular_function
Homolog in other species F13B
Omim http://omim.org/entry/134580
Immgen Expression
LOW
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026368
Chromosome 1
Coordinate 139,517,333     (Assembly: GRCm38)    
Ref Base A
Codon Change Act/Tct
Var Base T
Zygosity Heterozygous
Read Depth 83
Allele Frequency
A:R0.52
T:V0.48
Amino Acid Position 574
Amino Acid Change T->S (Threonine -> Serine)
Sample ID IGL02192
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 61 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.05
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved