Fermt3 - SNV Details



 Human Rare Diseases 
Leukocyte adhesion deficiency type III

 Gene Information 
Gene Name Fermt3
Old Gene Names for Fermt3 Bc032204 , C79673
Gene Description fermitin family homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2147790]
MGI phenotype Disruption of this marker results in lethality in the first week after birth, abnormal erythropoiesis and platelet function, and severe hemorrhage.
Uniprot Name
CCDS Name
Gene GO
integrin binding; platelet aggregation; membrane; leukocyte cell-cell adhesion; substrate adhesion-dependent cell spreading; podosome; cell projection; protein binding; cell junction; extracellular vesicular exosome; regulation of cell-cell adhesion mediated by integrin; integrin-mediated signaling pathway; integrin activation
Homolog in other species FERMT3
Omim http://omim.org/entry/607901
Immgen Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024965
Chromosome 19
Coordinate 7,003,263     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 48
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL03146
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0.68
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved