Incidental Mutation 'IGL03068:Atp1a1'
ID409779
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp1a1
Ensembl Gene ENSMUSG00000033161
Gene NameATPase, Na+/K+ transporting, alpha 1 polypeptide
SynonymsAtpa-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03068
Quality Score
Status
Chromosome3
Chromosomal Location101576219-101604684 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101583859 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 620 (H620R)
Ref Sequence ENSEMBL: ENSMUSP00000039657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036493]
Predicted Effect probably benign
Transcript: ENSMUST00000036493
AA Change: H620R

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: H620R

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: ENSMUST00000197360
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 A G 4: 126,417,378 L14P probably damaging Het
Ak2 G T 4: 129,008,026 probably benign Het
Appbp2 T C 11: 85,201,420 Y311C probably damaging Het
Arl9 C A 5: 77,007,378 L119I possibly damaging Het
Cfap52 T C 11: 67,935,856 D381G probably benign Het
Cngb3 T C 4: 19,375,246 F292S possibly damaging Het
Comtd1 G A 14: 21,847,643 R203C probably damaging Het
Crmp1 G T 5: 37,265,289 A147S possibly damaging Het
Csmd3 T A 15: 47,847,121 H1586L possibly damaging Het
Ctnna1 G A 18: 35,249,732 E644K possibly damaging Het
Dock3 T C 9: 106,964,759 D957G possibly damaging Het
Ear1 G T 14: 43,819,045 S122* probably null Het
Eefsec G T 6: 88,258,227 Q576K probably benign Het
Efcab5 T A 11: 77,104,101 I1215L probably benign Het
Etfa A T 9: 55,487,482 D160E probably benign Het
Exoc7 G A 11: 116,301,134 R197C possibly damaging Het
G6pc A G 11: 101,370,750 D92G probably benign Het
Gm3182 T A 14: 4,483,921 probably null Het
Gm4952 A G 19: 12,623,704 N96S probably damaging Het
Gpr156 G A 16: 37,992,129 V276M probably damaging Het
Irs2 A G 8: 11,004,974 S1153P probably damaging Het
Kif21b T C 1: 136,158,355 probably benign Het
Lmo7 A T 14: 101,875,492 probably benign Het
Mapk4 G T 18: 73,970,344 N31K probably damaging Het
Mccc2 T C 13: 99,963,811 T357A probably damaging Het
Mpeg1 A G 19: 12,462,206 T343A probably benign Het
Myo3b G T 2: 70,426,816 probably benign Het
Pald1 T C 10: 61,321,184 E829G possibly damaging Het
Pde11a A G 2: 76,017,864 I873T probably damaging Het
Samd9l T A 6: 3,375,348 K638* probably null Het
Sema4d A G 13: 51,708,886 S479P probably damaging Het
Slc12a2 T C 18: 57,904,335 probably benign Het
Slc47a2 T C 11: 61,303,943 N470S probably damaging Het
Spag17 C T 3: 100,080,205 P1604S probably benign Het
Taf8 C A 17: 47,501,365 V39L probably damaging Het
Tlr11 A G 14: 50,361,484 E309G probably benign Het
Tmem260 A G 14: 48,486,914 probably benign Het
Tsc1 A T 2: 28,681,258 K816M probably damaging Het
Ttc29 A G 8: 78,325,551 I354V probably benign Het
Ttll3 A T 6: 113,409,197 N665Y probably damaging Het
Ubr4 A G 4: 139,409,730 T971A probably benign Het
Vmn2r96 T A 17: 18,582,875 I349N probably benign Het
Vwa5a A G 9: 38,734,847 T504A probably benign Het
Ythdf3 T A 3: 16,204,718 V354E possibly damaging Het
Zan C A 5: 137,476,415 G13V probably damaging Het
Other mutations in Atp1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Atp1a1 APN 3 101591453 missense probably damaging 1.00
IGL01700:Atp1a1 APN 3 101594258 missense possibly damaging 0.95
IGL01836:Atp1a1 APN 3 101591414 missense probably damaging 1.00
IGL01863:Atp1a1 APN 3 101591889 nonsense probably null
IGL02021:Atp1a1 APN 3 101594208 missense probably benign 0.02
IGL02078:Atp1a1 APN 3 101591863 missense probably damaging 1.00
IGL02873:Atp1a1 APN 3 101576578 missense probably benign 0.16
IGL02934:Atp1a1 APN 3 101576992 nonsense probably null
PIT4453001:Atp1a1 UTSW 3 101581179 missense probably benign 0.01
R0009:Atp1a1 UTSW 3 101579835 missense possibly damaging 0.67
R0506:Atp1a1 UTSW 3 101589812 missense probably damaging 0.96
R0724:Atp1a1 UTSW 3 101592439 missense possibly damaging 0.50
R0826:Atp1a1 UTSW 3 101584853 missense probably damaging 0.99
R1457:Atp1a1 UTSW 3 101590466 missense probably damaging 1.00
R1732:Atp1a1 UTSW 3 101584799 missense probably damaging 1.00
R1843:Atp1a1 UTSW 3 101582017 missense probably benign 0.43
R2172:Atp1a1 UTSW 3 101590548 missense probably benign
R3770:Atp1a1 UTSW 3 101581194 missense probably benign 0.17
R3905:Atp1a1 UTSW 3 101590612 missense probably benign 0.00
R4602:Atp1a1 UTSW 3 101586943 missense probably benign 0.00
R4611:Atp1a1 UTSW 3 101586943 missense probably benign 0.00
R4715:Atp1a1 UTSW 3 101591806 missense possibly damaging 0.90
R4777:Atp1a1 UTSW 3 101594996 critical splice donor site probably null
R4795:Atp1a1 UTSW 3 101583775 missense probably benign 0.15
R5030:Atp1a1 UTSW 3 101579817 missense probably benign 0.22
R5066:Atp1a1 UTSW 3 101582104 missense probably damaging 0.98
R5165:Atp1a1 UTSW 3 101581789 missense probably benign 0.01
R5297:Atp1a1 UTSW 3 101591127 missense possibly damaging 0.82
R5307:Atp1a1 UTSW 3 101589964 missense probably damaging 1.00
R5379:Atp1a1 UTSW 3 101582095 missense probably benign 0.01
R5495:Atp1a1 UTSW 3 101591425 missense probably benign 0.01
R5946:Atp1a1 UTSW 3 101589774 missense probably benign 0.12
R6125:Atp1a1 UTSW 3 101590707 missense probably damaging 1.00
R6789:Atp1a1 UTSW 3 101586298 missense possibly damaging 0.71
R7339:Atp1a1 UTSW 3 101589872 missense probably benign 0.44
R7552:Atp1a1 UTSW 3 101582121 nonsense probably null
R7825:Atp1a1 UTSW 3 101586169 missense probably benign 0.00
R8098:Atp1a1 UTSW 3 101582049 missense probably damaging 0.97
X0019:Atp1a1 UTSW 3 101594213 missense probably benign 0.03
Posted On2016-08-02