|Institutional Source||Beutler Lab|
|Gene Name||ATPase, Na+/K+ transporting, alpha 1 polypeptide|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0506 (G1)|
|Chromosomal Location||101576219-101604684 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 101589812 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 393 (F393L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039657 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036493]|
|Predicted Effect||probably damaging
AA Change: F393L
PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: F393L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3319|
|Coding Region Coverage||
|Validation Efficiency||100% (100/100)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene have a lethal phenotype. Heterozygotes display increased anxiety and decreased exploratory behavior in a new environment. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp1a1||
(F):5'- TGCAGACTGTGGCATATTACCAGTTC -3'
(R):5'- GTCTGTCTGACACTCACTGCCAAG -3'
(F):5'- ctacacagcaggggagaac -3'
(R):5'- AGCGCATGGcgaggaag -3'