Incidental Mutation 'IGL02078:Atp1a1'
ID 186019
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 # IGL02078
Quality Score
Status
Chromosome 3
Chromosomal Location 101483535-101512000 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 101499179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 140 (V140G)
Ref Sequence ENSEMBL: ENSMUSP00000039657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036493]
AlphaFold Q8VDN2
Predicted Effect probably damaging
Transcript: ENSMUST00000036493
AA Change: V140G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: V140G

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,888,179 (GRCm39) D87G probably benign Het
Acap1 C T 11: 69,786,112 (GRCm39) R18Q probably damaging Het
Bmpr1b G A 3: 141,576,498 (GRCm39) P112S possibly damaging Het
Chst8 T A 7: 34,374,759 (GRCm39) N360I possibly damaging Het
Cldn23 A T 8: 36,293,359 (GRCm39) V43E possibly damaging Het
Clta T C 4: 44,030,232 (GRCm39) F168S probably damaging Het
Cyp2c40 T C 19: 39,755,926 (GRCm39) I463V probably benign Het
E2f2 A G 4: 135,920,323 (GRCm39) D436G probably damaging Het
Fbxo24 T G 5: 137,622,611 (GRCm39) T52P probably damaging Het
Gria4 G A 9: 4,793,878 (GRCm39) A60V probably damaging Het
Grm1 C T 10: 10,565,354 (GRCm39) V985M probably benign Het
Hexa A G 9: 59,464,586 (GRCm39) T159A probably benign Het
Inf2 T A 12: 112,568,048 (GRCm39) V200E probably damaging Het
Kif20b T A 19: 34,913,044 (GRCm39) V319E probably damaging Het
Klhl10 A G 11: 100,336,577 (GRCm39) D188G probably benign Het
Mobp G A 9: 119,996,980 (GRCm39) R37H probably damaging Het
Mybpc2 T A 7: 44,153,204 (GRCm39) D1086V probably damaging Het
Nadk A C 4: 155,663,860 (GRCm39) probably benign Het
Or7g33 T A 9: 19,448,749 (GRCm39) H159L probably benign Het
Per1 A G 11: 68,995,125 (GRCm39) E619G probably damaging Het
Rab3gap1 G A 1: 127,796,652 (GRCm39) probably benign Het
Rimkla A G 4: 119,325,344 (GRCm39) L355P probably damaging Het
Rnf139 A G 15: 58,771,880 (GRCm39) D635G possibly damaging Het
Sall1 T A 8: 89,757,003 (GRCm39) N1034Y probably damaging Het
Serpinb13 A T 1: 106,926,688 (GRCm39) Q228L probably damaging Het
Sin3b G T 8: 73,480,208 (GRCm39) M903I possibly damaging Het
Slco1a5 A T 6: 142,200,172 (GRCm39) M204K probably benign Het
Smo A G 6: 29,754,707 (GRCm39) D259G possibly damaging Het
Spata31g1 A C 4: 42,972,685 (GRCm39) K673Q possibly damaging Het
Sult2a4 T C 7: 13,723,469 (GRCm39) I15M probably benign Het
Ttn T A 2: 76,772,785 (GRCm39) probably null Het
Wdtc1 C A 4: 133,033,271 (GRCm39) D176Y probably damaging Het
Other mutations in Atp1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Atp1a1 APN 3 101,498,769 (GRCm39) missense probably damaging 1.00
IGL01700:Atp1a1 APN 3 101,501,574 (GRCm39) missense possibly damaging 0.95
IGL01836:Atp1a1 APN 3 101,498,730 (GRCm39) missense probably damaging 1.00
IGL01863:Atp1a1 APN 3 101,499,205 (GRCm39) nonsense probably null
IGL02021:Atp1a1 APN 3 101,501,524 (GRCm39) missense probably benign 0.02
IGL02873:Atp1a1 APN 3 101,483,894 (GRCm39) missense probably benign 0.16
IGL02934:Atp1a1 APN 3 101,484,308 (GRCm39) nonsense probably null
IGL03068:Atp1a1 APN 3 101,491,175 (GRCm39) missense probably benign 0.26
PIT4453001:Atp1a1 UTSW 3 101,488,495 (GRCm39) missense probably benign 0.01
R0009:Atp1a1 UTSW 3 101,487,151 (GRCm39) missense possibly damaging 0.67
R0506:Atp1a1 UTSW 3 101,497,128 (GRCm39) missense probably damaging 0.96
R0724:Atp1a1 UTSW 3 101,499,755 (GRCm39) missense possibly damaging 0.50
R0826:Atp1a1 UTSW 3 101,492,169 (GRCm39) missense probably damaging 0.99
R1457:Atp1a1 UTSW 3 101,497,782 (GRCm39) missense probably damaging 1.00
R1732:Atp1a1 UTSW 3 101,492,115 (GRCm39) missense probably damaging 1.00
R1843:Atp1a1 UTSW 3 101,489,333 (GRCm39) missense probably benign 0.43
R2172:Atp1a1 UTSW 3 101,497,864 (GRCm39) missense probably benign
R3770:Atp1a1 UTSW 3 101,488,510 (GRCm39) missense probably benign 0.17
R3905:Atp1a1 UTSW 3 101,497,928 (GRCm39) missense probably benign 0.00
R4602:Atp1a1 UTSW 3 101,494,259 (GRCm39) missense probably benign 0.00
R4611:Atp1a1 UTSW 3 101,494,259 (GRCm39) missense probably benign 0.00
R4715:Atp1a1 UTSW 3 101,499,122 (GRCm39) missense possibly damaging 0.90
R4777:Atp1a1 UTSW 3 101,502,312 (GRCm39) critical splice donor site probably null
R4795:Atp1a1 UTSW 3 101,491,091 (GRCm39) missense probably benign 0.15
R5030:Atp1a1 UTSW 3 101,487,133 (GRCm39) missense probably benign 0.22
R5066:Atp1a1 UTSW 3 101,489,420 (GRCm39) missense probably damaging 0.98
R5165:Atp1a1 UTSW 3 101,489,105 (GRCm39) missense probably benign 0.01
R5297:Atp1a1 UTSW 3 101,498,443 (GRCm39) missense possibly damaging 0.82
R5307:Atp1a1 UTSW 3 101,497,280 (GRCm39) missense probably damaging 1.00
R5379:Atp1a1 UTSW 3 101,489,411 (GRCm39) missense probably benign 0.01
R5495:Atp1a1 UTSW 3 101,498,741 (GRCm39) missense probably benign 0.01
R5946:Atp1a1 UTSW 3 101,497,090 (GRCm39) missense probably benign 0.12
R6125:Atp1a1 UTSW 3 101,498,023 (GRCm39) missense probably damaging 1.00
R6789:Atp1a1 UTSW 3 101,493,614 (GRCm39) missense possibly damaging 0.71
R7339:Atp1a1 UTSW 3 101,497,188 (GRCm39) missense probably benign 0.44
R7552:Atp1a1 UTSW 3 101,489,437 (GRCm39) nonsense probably null
R7825:Atp1a1 UTSW 3 101,493,485 (GRCm39) missense probably benign 0.00
R8098:Atp1a1 UTSW 3 101,489,365 (GRCm39) missense probably damaging 0.97
R8175:Atp1a1 UTSW 3 101,492,170 (GRCm39) missense possibly damaging 0.79
R8281:Atp1a1 UTSW 3 101,486,940 (GRCm39) missense probably benign 0.12
R8403:Atp1a1 UTSW 3 101,494,220 (GRCm39) missense probably damaging 1.00
R8435:Atp1a1 UTSW 3 101,490,078 (GRCm39) missense probably benign
R8461:Atp1a1 UTSW 3 101,496,405 (GRCm39) missense probably benign 0.01
R8772:Atp1a1 UTSW 3 101,487,124 (GRCm39) missense probably benign
R8782:Atp1a1 UTSW 3 101,501,533 (GRCm39) missense possibly damaging 0.63
R8919:Atp1a1 UTSW 3 101,498,547 (GRCm39) missense probably damaging 1.00
R9066:Atp1a1 UTSW 3 101,489,338 (GRCm39) missense probably damaging 1.00
R9227:Atp1a1 UTSW 3 101,499,750 (GRCm39) missense probably damaging 1.00
R9712:Atp1a1 UTSW 3 101,498,757 (GRCm39) missense probably benign 0.06
X0019:Atp1a1 UTSW 3 101,501,529 (GRCm39) missense probably benign 0.03
Posted On 2014-05-07