Add1 - SNV Details



 Gene Information 
Gene Name Add1
Old Gene Names for Add1 Ai256389
Gene Description adducin 1 (alpha) [Source:MGI Symbol;Acc:MGI:87918]
MGI phenotype Targeted gene deletion leads to reduced growth and compensated hemolytic anemia. RBCs are osmotically fragile, dehydrated, and spherocytic with severe loss of membrane surface area and reduced MCV. ~50% of homozygotes develop lethal hydrocephaly with dilation of the lateral, 3rd, and 4th ventricles.
Uniprot Name
CCDS Name
Gene GO
hemoglobin metabolic process; perinuclear region of cytoplasm; membrane; cytoplasm; metal ion binding; barbed-end actin filament capping; cell morphogenesis; F-actin capping protein complex; protein homodimerization activity; cellular response to retinoic acid; protein binding; synapse; nucleus; spectrin binding; positive regulation of endocytosis; in utero embryonic development; multicellular organism growth; homeostasis of number of cells within a tissue; cytoskeleton; calmodulin binding; dendritic spine; erythrocyte differentiation; actin filament bundle assembly; positive regulation of angiogenesis; actin filament binding; structural molecule activity; plasma membrane; dendrite; transcription factor binding; cell volume homeostasis; T cell receptor binding; postsynaptic density; protein heterodimerization activity; positive regulation of protein binding
Homolog in other species ADD1
Omim http://omim.org/entry/102680
Immgen Expression
HIGH
Gnf Expression
HIGH(LOWER IN PANCREAS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029106
Chromosome 5
Coordinate 34,620,063     (Assembly: GRCm38)    
Ref Base C
Codon Change Cag/Aag
Var Base A
Zygosity Heterozygous
Read Depth 42
Allele Frequency
C:R0.48
A:V0.52
Amino Acid Position 512
Amino Acid Change Q->K (Glutamine -> Lysine)
Sample ID IGL01670
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging
Sift Score 0.29
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved