Gpi1 - SNV Details



 Gene Information 
Gene Name Gpi1
Old Gene Names for Gpi1 Gpi-1t , Gpi1-r , Gpi-1 , Gpi-1r , Gpi-1s , Org , Gpi1-s , Gpi1-t
Gene Description glucose phosphate isomerase 1 [Source:MGI Symbol;Acc:MGI:95797]
MGI phenotype Homozygotes for null mutations fail to develop beyond the egg cylinder stage and die by embryonic day 9.5. Homozygotes for a hypomorphic mutation exhibit nonspherocytic hemolytic anemia with hepatosplenomegaly.
Uniprot Name
CCDS Name
Gene GO
gluconeogenesis; cytoplasm; angiogenesis; protein binding; glycolysis; glucose metabolic process; cytokine activity; glucose-6-phosphate isomerase activity; growth factor activity; extracellular space
Homolog in other species GPI
Immgen Expression
HIGH(HIGHER IN MYELOID GROUP, DC GROUP, TGD GROUP)
HIGH
Gnf Expression
HIGH
HIGH(LOWER IN FERTILIZEDEGG, OOCYTE, MACROPHAGE_7HRLPS, SPLEEN, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000036427
Chromosome 7
Coordinate 34,220,922     (Assembly: GRCm38)    
Ref Base A
Codon Change gTc/gAc
Var Base T
Zygosity Heterozygous
Read Depth 61
Allele Frequency
A:R0.57
T:V0.43
Amino Acid Position 136
Amino Acid Change V->D (Valine -> Aspartic acid)
Sample ID IGL01911
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

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

 Availability Details 
Availability Cryopreserved