Atp1a4 - SNV Details



 Gene Information 
Gene Name Atp1a4
Gene Description ATPase, Na+/K+ transporting, alpha 4 polypeptide [Source:MGI Symbol;Acc:MGI:1351335]
MGI phenotype Male mice homozygous for a knock-out allele exhibit infertility associated with asthenozoospermia and teratozoospermia.
Uniprot Name
CCDS Name
Gene GO
monovalent inorganic cation transport; spermatogenesis; regulation of cellular pH; fertilization; sodium ion transmembrane transport; metal ion binding; ATP biosynthetic process; integral component of membrane; cellular_component; sodium:potassium-exchanging ATPase activity; nucleotide binding; cation transport; ATP binding; monovalent inorganic cation transmembrane transporter activity; plasma membrane; sperm motility; hydrolase activity
acting on acid anhydrides
catalyzing transmembrane movement of substances; regulation of membrane potential; cation-transporting ATPase activity; potassium ion transport; sodium ion transport
Homolog in other species ATP1A4
Omim http://omim.org/entry/607321
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000007107
Chromosome 1
Coordinate 172,227,299     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 47
Allele Frequency
C:R0.60
T:V0.40
Amino Acid Change Disrupted splicing
Splice Position 1
Sample ID IGL02792
Median Base Quality 35
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved