Itgam - SNV Details



 Gene Information 
Gene Name Itgam
Old Gene Names for Itgam Ly-40 , F730045j24rik , Mac-1a
Gene Description integrin alpha M [Source:MGI Symbol;Acc:MGI:96607]
MGI phenotype Homozygous null mice exhibit reduced staphylococcal enterotoxin- induced T cell proliferation, reduced neutrophil adhesion to fibrinogen, and defective homotypic aggregation and reduced degranulation of neutrophils.
Uniprot Name
CCDS Name
Gene GO
structural constituent of ribosome; opsonin binding; integral to membrane; cell adhesion; activated T cell proliferation; leukocyte cell-cell adhesion; translation; intracellular; external side of plasma membrane; microglia development; protein binding; cell surface; cell-cell adhesion; ribosome; glycoprotein binding; nucleus; heparin binding; integrin complex; cellular extravasation; integrin-mediated signaling pathway; heparan sulfate proteoglycan binding; neutrophil chemotaxis
Homolog in other species ITGAM
Omim http://omim.org/entry/120980
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 IMM GROUP, OSTEO GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030786
Chromosome 7
Coordinate 128,083,776     (Assembly: GRCm38)    
Ref Base C
Codon Change gCc/gTc
Var Base T
Zygosity Heterozygous
Read Depth 13
Allele Frequency
C:R0.62
T:V0.38
Amino Acid Position 320
Amino Acid Change A->V (Alanine -> Valine)
Sample ID IGL01910
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 24 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.07
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000068468:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
von Willebrand factor, type A VWF_A IPR002035 ENSMUSP00000068468 Smart 148
333 Description available Search pathways
von Willebrand factor, type A VWF_A IPR002035 ENSMUSP00000068468 Pfam 150
328 Description available Search pathways
von Willebrand factor, type A VWF_A IPR002035 ENSMUSP00000068468 Prosite_profiles 150
328 Description available Search pathways

 Availability Details 
Availability Cryopreserved