Atp5a1 - SNV Details

 Gene Information 
Gene Name Atp5a1
Old Gene Names for Atp5a1 D18ertd206e , Ai035633 , Al023067 , Al022851 , Atpm
Gene Description ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 [Source:MGI Symbol;Acc:MGI:88115]
Uniprot Name
Gene GO
mitochondrion; proton-transporting two-sector ATPase complex
catalytic domain; negative regulation of endothelial cell proliferation; ATPase activity; ATP synthesis coupled proton transport; lipid metabolic process; proton-transporting ATPase activity
rotational mechanism; signalosome; mitochondrial proton-transporting ATP synthase complex; hydrogen ion transporting ATP synthase activity
rotational mechanism; plasma membrane ATP synthesis coupled proton transport; mitochondrial proton-transporting ATP synthase complex
catalytic core F(1); protein binding; ADP binding; proton transport; ATP metabolic process; mitochondrial inner membrane; MHC class I protein binding; proton-transporting ATP synthase complex
catalytic core F(1); ADP biosynthetic process; ATP hydrolysis coupled proton transport; ATP binding; eukaryotic cell surface binding; plasma membrane; hydrolase activity
acting on acid anhydrides
catalyzing transmembrane movement of substances; embryo development
Homolog in other species ATP5A1
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025428
Chromosome 18
Coordinate 77,777,533     (Assembly: GRCm38)    
Ref Base T
Codon Change Tcc/Ccc
Var Base C
Zygosity Heterozygous
Read Depth 13
Allele Frequency
Amino Acid Position 52
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL01419
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 62 Other Mutations

Polyphen Score 0.86
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
ATPase, F1 complex, alpha subunit ATPase_F1-cplx_asu IPR005294 ENSMUSP00000026495 TIGRfam 48
551 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved