Sirpa - SNV Details



 Gene Information 
Gene Name Sirpa
Old Gene Names for Sirpa Bit , Ai835480 , Ptpns1
Gene Description signal-regulatory protein alpha [Source:MGI Symbol;Acc:MGI:108563]
MGI phenotype Homozygous null mice display mild thrombocytopenia, fatty livers, decreased body weight, decreased proportion of single positive T cells, enhanced peritoneal macrophage phagocytosis and impaired Langerhans cell migration.
Uniprot Name
CCDS Name
Gene GO
engulfment
recognition
SH3 domain binding
actin filament organization
cell migration
cell-matrix adhesion
cellular component movement
cytoskeleton organization
integral to plasma membrane
phagocytosis
plasma membrane
Homolog in other species SIRPA
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC GROUP, TGD.SP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037902
Chromosome 2
Coordinate 129,609,183     (Assembly: GRCm38)    
Ref Base G
Codon Change tGt/tAt
Var Base A
Zygosity Heterozygous
Read Depth 42
Allele Frequency
G:0.43
A:0.55
Amino Acid Position 121
Amino Acid Change C->Y (Cysteine -> Tyrosine)
Sample ID IGL00835
Median Base Quality 39.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved