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
CCDS 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
Omim http://omim.org/entry/164360
Immgen Expression
HIGH
Gnf Expression
HIGH
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
T:R0.46
C:V0.54
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

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

 Protein domains 
ENSMUSP00000026495:
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