Sele - SNV Details



 Gene Information 
Gene Name Sele
Old Gene Names for Sele Elam
Gene Description selectin, endothelial cell [Source:MGI Symbol;Acc:MGI:98278]
MGI phenotype Homozygotes for targeted null mutations exhibit mild defects in neutrophil infiltration during inflammatory responses. When combined with other selectin gene knockouts, more severe defects are present.
Uniprot Name
CCDS Name
Gene GO
cortical cytoskeleton; activation of phospholipase C activity; perinuclear region of cytoplasm; positive regulation of leukocyte migration; caveola; coated pit; signal transduction; transmembrane signaling receptor activity; leukocyte cell-cell adhesion; actin filament-based process; membrane raft; protein binding; integral component of membrane; heterophilic cell-cell adhesion; carbohydrate binding; sialic acid binding; phospholipase binding; oligosaccharide binding; calcium ion binding; response to interleukin-1; leukocyte tethering or rolling; extracellular space; positive regulation of receptor internalization
Homolog in other species SELE
Omim http://omim.org/entry/131210
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026582
Chromosome 1
Coordinate 164,050,130     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 37
Allele Frequency
A:R0.43
T:V0.57
Amino Acid Change I->F (Isoleucine -> Phenylalanine)
Sample ID IGL02688
Median Base Quality 40
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 25 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved