Incidental Mutation 'IGL01863:Atp1a1'
ID 178408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp1a1
Ensembl Gene ENSMUSG00000033161
Gene Name ATPase, Na+/K+ transporting, alpha 1 polypeptide
Synonyms Atpa-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01863
Quality Score
Status
Chromosome 3
Chromosomal Location 101576219-101604684 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 101591889 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 131 (Y131*)
Ref Sequence ENSEMBL: ENSMUSP00000039657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036493]
AlphaFold Q8VDN2
Predicted Effect probably null
Transcript: ENSMUST00000036493
AA Change: Y131*
SMART Domains Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: Y131*

DomainStartEndE-ValueType
low complexity region 21 28 N/A INTRINSIC
Cation_ATPase_N 42 116 5e-20 SMART
Pfam:E1-E2_ATPase 134 365 1.6e-59 PFAM
Pfam:Hydrolase 370 729 2.7e-19 PFAM
Pfam:HAD 373 726 1.3e-18 PFAM
Pfam:Cation_ATPase 426 521 2.2e-25 PFAM
Pfam:Cation_ATPase_C 799 1008 1.2e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200347
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T A 10: 42,339,911 (GRCm38) I326F possibly damaging Het
Aimp1 T C 3: 132,672,092 (GRCm38) T171A probably benign Het
Armc4 T C 18: 7,222,617 (GRCm38) T551A probably damaging Het
Ash1l T A 3: 88,985,506 (GRCm38) L1564* probably null Het
Celsr2 T C 3: 108,394,022 (GRCm38) E2686G probably benign Het
Cyp4f18 A G 8: 71,989,926 (GRCm38) V395A possibly damaging Het
Ephb2 T C 4: 136,659,777 (GRCm38) Q713R probably benign Het
Esf1 A T 2: 140,120,679 (GRCm38) M824K probably benign Het
Fam46c C T 3: 100,472,664 (GRCm38) D259N probably benign Het
Fat4 T C 3: 38,970,619 (GRCm38) probably benign Het
Gem A G 4: 11,705,980 (GRCm38) I23V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm38) Y194F probably benign Het
Gm5862 A C 5: 26,022,771 (GRCm38) W41G probably benign Het
Il6st A G 13: 112,504,210 (GRCm38) E779G possibly damaging Het
Lama3 T A 18: 12,419,936 (GRCm38) probably benign Het
Lipi A C 16: 75,550,226 (GRCm38) I435R probably damaging Het
Lrrc6 A T 15: 66,396,974 (GRCm38) probably benign Het
Olfr291 T C 7: 84,856,411 (GRCm38) L14P probably damaging Het
Omg C T 11: 79,502,224 (GRCm38) M269I probably benign Het
Optn A T 2: 5,021,487 (GRCm38) probably benign Het
Pex1 A G 5: 3,606,066 (GRCm38) T298A probably benign Het
Rab27b T A 18: 69,989,554 (GRCm38) R111S probably damaging Het
Rhbdf1 T G 11: 32,213,484 (GRCm38) E329D probably benign Het
Slc2a13 T C 15: 91,516,492 (GRCm38) I176V probably benign Het
Slc30a1 T A 1: 191,909,084 (GRCm38) C281S probably damaging Het
Slc4a7 T A 14: 14,762,430 (GRCm38) C509S probably damaging Het
Slfn9 T C 11: 82,981,325 (GRCm38) R862G probably benign Het
Tbc1d2 A G 4: 46,607,064 (GRCm38) I782T possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 (GRCm38) noncoding transcript Het
Vps33b T C 7: 80,274,311 (GRCm38) probably null Het
Wrap73 A G 4: 154,145,333 (GRCm38) I54V probably benign Het
Other mutations in Atp1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Atp1a1 APN 3 101,591,453 (GRCm38) missense probably damaging 1.00
IGL01700:Atp1a1 APN 3 101,594,258 (GRCm38) missense possibly damaging 0.95
IGL01836:Atp1a1 APN 3 101,591,414 (GRCm38) missense probably damaging 1.00
IGL02021:Atp1a1 APN 3 101,594,208 (GRCm38) missense probably benign 0.02
IGL02078:Atp1a1 APN 3 101,591,863 (GRCm38) missense probably damaging 1.00
IGL02873:Atp1a1 APN 3 101,576,578 (GRCm38) missense probably benign 0.16
IGL02934:Atp1a1 APN 3 101,576,992 (GRCm38) nonsense probably null
IGL03068:Atp1a1 APN 3 101,583,859 (GRCm38) missense probably benign 0.26
PIT4453001:Atp1a1 UTSW 3 101,581,179 (GRCm38) missense probably benign 0.01
R0009:Atp1a1 UTSW 3 101,579,835 (GRCm38) missense possibly damaging 0.67
R0506:Atp1a1 UTSW 3 101,589,812 (GRCm38) missense probably damaging 0.96
R0724:Atp1a1 UTSW 3 101,592,439 (GRCm38) missense possibly damaging 0.50
R0826:Atp1a1 UTSW 3 101,584,853 (GRCm38) missense probably damaging 0.99
R1457:Atp1a1 UTSW 3 101,590,466 (GRCm38) missense probably damaging 1.00
R1732:Atp1a1 UTSW 3 101,584,799 (GRCm38) missense probably damaging 1.00
R1843:Atp1a1 UTSW 3 101,582,017 (GRCm38) missense probably benign 0.43
R2172:Atp1a1 UTSW 3 101,590,548 (GRCm38) missense probably benign
R3770:Atp1a1 UTSW 3 101,581,194 (GRCm38) missense probably benign 0.17
R3905:Atp1a1 UTSW 3 101,590,612 (GRCm38) missense probably benign 0.00
R4602:Atp1a1 UTSW 3 101,586,943 (GRCm38) missense probably benign 0.00
R4611:Atp1a1 UTSW 3 101,586,943 (GRCm38) missense probably benign 0.00
R4715:Atp1a1 UTSW 3 101,591,806 (GRCm38) missense possibly damaging 0.90
R4777:Atp1a1 UTSW 3 101,594,996 (GRCm38) critical splice donor site probably null
R4795:Atp1a1 UTSW 3 101,583,775 (GRCm38) missense probably benign 0.15
R5030:Atp1a1 UTSW 3 101,579,817 (GRCm38) missense probably benign 0.22
R5066:Atp1a1 UTSW 3 101,582,104 (GRCm38) missense probably damaging 0.98
R5165:Atp1a1 UTSW 3 101,581,789 (GRCm38) missense probably benign 0.01
R5297:Atp1a1 UTSW 3 101,591,127 (GRCm38) missense possibly damaging 0.82
R5307:Atp1a1 UTSW 3 101,589,964 (GRCm38) missense probably damaging 1.00
R5379:Atp1a1 UTSW 3 101,582,095 (GRCm38) missense probably benign 0.01
R5495:Atp1a1 UTSW 3 101,591,425 (GRCm38) missense probably benign 0.01
R5946:Atp1a1 UTSW 3 101,589,774 (GRCm38) missense probably benign 0.12
R6125:Atp1a1 UTSW 3 101,590,707 (GRCm38) missense probably damaging 1.00
R6789:Atp1a1 UTSW 3 101,586,298 (GRCm38) missense possibly damaging 0.71
R7339:Atp1a1 UTSW 3 101,589,872 (GRCm38) missense probably benign 0.44
R7552:Atp1a1 UTSW 3 101,582,121 (GRCm38) nonsense probably null
R7825:Atp1a1 UTSW 3 101,586,169 (GRCm38) missense probably benign 0.00
R8098:Atp1a1 UTSW 3 101,582,049 (GRCm38) missense probably damaging 0.97
R8175:Atp1a1 UTSW 3 101,584,854 (GRCm38) missense possibly damaging 0.79
R8281:Atp1a1 UTSW 3 101,579,624 (GRCm38) missense probably benign 0.12
R8403:Atp1a1 UTSW 3 101,586,904 (GRCm38) missense probably damaging 1.00
R8435:Atp1a1 UTSW 3 101,582,762 (GRCm38) missense probably benign
R8461:Atp1a1 UTSW 3 101,589,089 (GRCm38) missense probably benign 0.01
R8772:Atp1a1 UTSW 3 101,579,808 (GRCm38) missense probably benign
R8782:Atp1a1 UTSW 3 101,594,217 (GRCm38) missense possibly damaging 0.63
R8919:Atp1a1 UTSW 3 101,591,231 (GRCm38) missense probably damaging 1.00
R9066:Atp1a1 UTSW 3 101,582,022 (GRCm38) missense probably damaging 1.00
R9227:Atp1a1 UTSW 3 101,592,434 (GRCm38) missense probably damaging 1.00
R9712:Atp1a1 UTSW 3 101,591,441 (GRCm38) missense probably benign 0.06
X0019:Atp1a1 UTSW 3 101,594,213 (GRCm38) missense probably benign 0.03
Posted On 2014-05-07