Incidental Mutation 'R6722:Atp1a4'
ID 529615
Institutional Source Beutler Lab
Gene Symbol Atp1a4
Ensembl Gene ENSMUSG00000007107
Gene Name ATPase, Na+/K+ transporting, alpha 4 polypeptide
Synonyms
MMRRC Submission 044840-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6722 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 172051080-172085981 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 172085617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111243] [ENSMUST00000139528]
AlphaFold Q9WV27
Predicted Effect probably benign
Transcript: ENSMUST00000111243
SMART Domains Protein: ENSMUSP00000106874
Gene: ENSMUSG00000007107

DomainStartEndE-ValueType
low complexity region 33 50 N/A INTRINSIC
Cation_ATPase_N 51 125 1.22e-14 SMART
Pfam:E1-E2_ATPase 144 375 2.6e-59 PFAM
Pfam:Hydrolase 380 738 8.1e-19 PFAM
Pfam:HAD 383 735 1.6e-17 PFAM
Pfam:Cation_ATPase 437 531 9.2e-25 PFAM
Pfam:Cation_ATPase_C 808 1017 1.2e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139528
SMART Domains Protein: ENSMUSP00000134280
Gene: ENSMUSG00000038034

DomainStartEndE-ValueType
IG_like 19 84 3.66e1 SMART
low complexity region 92 103 N/A INTRINSIC
IG 106 222 2.3e-3 SMART
IG 246 370 9.49e-5 SMART
IG 382 508 3.59e-5 SMART
transmembrane domain 515 537 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193316
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 96% (52/54)
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 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit infertility associated with asthenozoospermia and teratozoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T G 12: 81,468,228 (GRCm39) D131A probably damaging Het
Ank3 T C 10: 69,826,074 (GRCm39) probably benign Het
Bmal2 T A 6: 146,720,398 (GRCm39) D187E probably damaging Het
Castor2 T C 5: 134,164,458 (GRCm39) S140P probably benign Het
Ccdc162 T C 10: 41,520,637 (GRCm39) N673S probably benign Het
Cd84 G A 1: 171,700,344 (GRCm39) V154M probably damaging Het
Celsr1 C A 15: 85,790,115 (GRCm39) probably null Het
Cfap57 A C 4: 118,441,914 (GRCm39) L718R probably damaging Het
Cntnap5b G A 1: 100,406,211 (GRCm39) V803M probably damaging Het
Col6a2 C T 10: 76,450,392 (GRCm39) V180I probably damaging Het
Coq4 A T 2: 29,678,297 (GRCm39) probably benign Het
Cyp2a4 A G 7: 26,012,983 (GRCm39) T389A probably benign Het
Dennd1c T C 17: 57,373,802 (GRCm39) D587G probably benign Het
Dnaja4 A G 9: 54,607,038 (GRCm39) D9G probably damaging Het
Hes2 T G 4: 152,244,834 (GRCm39) L101R probably damaging Het
Icam2 A G 11: 106,273,307 (GRCm39) S2P probably damaging Het
Krt31 A G 11: 99,939,254 (GRCm39) L221P probably damaging Het
Lipm A T 19: 34,098,665 (GRCm39) N380Y probably benign Het
Lrp2bp G A 8: 46,473,600 (GRCm39) probably null Het
Mbd2 T A 18: 70,713,819 (GRCm39) M216K probably damaging Het
Mrps33 T C 6: 39,782,599 (GRCm39) probably benign Het
Nbeal2 T C 9: 110,462,060 (GRCm39) D1459G probably damaging Het
Ncapd3 T C 9: 26,998,852 (GRCm39) S1281P probably benign Het
Nt5c1b T A 12: 10,422,874 (GRCm39) Y56N possibly damaging Het
Nthl1 A G 17: 24,853,008 (GRCm39) K71E probably benign Het
Or4f62 T A 2: 111,987,227 (GRCm39) N310K probably benign Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pde4a G A 9: 21,122,521 (GRCm39) A806T probably damaging Het
Pde4d C A 13: 109,769,432 (GRCm39) S40* probably null Het
Pde4dip G A 3: 97,625,555 (GRCm39) R1348* probably null Het
Pdx1 C T 5: 147,207,310 (GRCm39) P88S probably damaging Het
Pnisr T A 4: 21,859,165 (GRCm39) V120D probably damaging Het
Prss51 G T 14: 64,332,508 (GRCm39) C65F probably damaging Het
Pus10 G A 11: 23,652,975 (GRCm39) E195K possibly damaging Het
Pzp T A 6: 128,464,917 (GRCm39) Q1319L probably damaging Het
Rbpms G T 8: 34,324,421 (GRCm39) T101K probably damaging Het
Rundc3a A G 11: 102,290,775 (GRCm39) N281S possibly damaging Het
Scml4 C T 10: 42,736,728 (GRCm39) probably benign Het
Sez6 T C 11: 77,844,528 (GRCm39) V117A probably damaging Het
Sgsm2 A C 11: 74,756,250 (GRCm39) C366W probably damaging Het
Slc12a4 T C 8: 106,670,882 (GRCm39) probably null Het
Smg5 C T 3: 88,260,332 (GRCm39) R641C probably damaging Het
Stxbp3 A G 3: 108,723,762 (GRCm39) Y150H probably benign Het
Thoc2l T A 5: 104,668,145 (GRCm39) M889K probably damaging Het
Tkt T C 14: 30,291,041 (GRCm39) F351S probably damaging Het
Tln1 A G 4: 43,547,618 (GRCm39) L781P probably damaging Het
Triobp G A 15: 78,885,765 (GRCm39) E1823K probably damaging Het
Ttll4 T C 1: 74,720,948 (GRCm39) V538A possibly damaging Het
Uba52rt A G 4: 3,973,386 (GRCm39) Y59H probably benign Het
Vmn1r61 T A 7: 5,613,687 (GRCm39) N209I possibly damaging Het
Wdr75 T A 1: 45,844,512 (GRCm39) probably null Het
Zfp985 T C 4: 147,667,528 (GRCm39) V132A probably benign Het
Zswim3 T A 2: 164,662,544 (GRCm39) probably null Het
Other mutations in Atp1a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Atp1a4 APN 1 172,067,373 (GRCm39) missense probably damaging 1.00
IGL00924:Atp1a4 APN 1 172,074,339 (GRCm39) missense probably damaging 1.00
IGL01288:Atp1a4 APN 1 172,085,474 (GRCm39) missense possibly damaging 0.77
IGL01665:Atp1a4 APN 1 172,074,291 (GRCm39) missense probably benign
IGL02156:Atp1a4 APN 1 172,085,529 (GRCm39) missense probably benign
IGL02170:Atp1a4 APN 1 172,062,103 (GRCm39) missense possibly damaging 0.94
IGL02228:Atp1a4 APN 1 172,082,452 (GRCm39) missense possibly damaging 0.69
IGL02505:Atp1a4 APN 1 172,062,642 (GRCm39) missense probably damaging 1.00
IGL02653:Atp1a4 APN 1 172,078,973 (GRCm39) missense possibly damaging 0.81
IGL02792:Atp1a4 APN 1 172,054,866 (GRCm39) critical splice donor site probably null
IGL02794:Atp1a4 APN 1 172,071,653 (GRCm39) missense probably benign 0.13
IGL03102:Atp1a4 APN 1 172,058,718 (GRCm39) missense probably damaging 1.00
R0046:Atp1a4 UTSW 1 172,067,664 (GRCm39) missense probably benign 0.09
R0046:Atp1a4 UTSW 1 172,067,664 (GRCm39) missense probably benign 0.09
R0276:Atp1a4 UTSW 1 172,085,468 (GRCm39) missense probably damaging 1.00
R0309:Atp1a4 UTSW 1 172,062,554 (GRCm39) missense probably damaging 1.00
R0525:Atp1a4 UTSW 1 172,067,255 (GRCm39) splice site probably benign
R0615:Atp1a4 UTSW 1 172,059,627 (GRCm39) splice site probably benign
R0730:Atp1a4 UTSW 1 172,067,774 (GRCm39) splice site probably benign
R1412:Atp1a4 UTSW 1 172,059,576 (GRCm39) missense probably damaging 0.97
R1652:Atp1a4 UTSW 1 172,082,470 (GRCm39) missense probably damaging 1.00
R1898:Atp1a4 UTSW 1 172,062,615 (GRCm39) missense probably damaging 0.99
R1968:Atp1a4 UTSW 1 172,067,731 (GRCm39) missense probably benign
R2291:Atp1a4 UTSW 1 172,072,473 (GRCm39) missense probably damaging 1.00
R2897:Atp1a4 UTSW 1 172,074,257 (GRCm39) missense probably damaging 1.00
R2908:Atp1a4 UTSW 1 172,062,044 (GRCm39) missense probably benign
R3119:Atp1a4 UTSW 1 172,067,393 (GRCm39) missense probably damaging 0.99
R3731:Atp1a4 UTSW 1 172,061,528 (GRCm39) missense probably damaging 1.00
R4447:Atp1a4 UTSW 1 172,061,998 (GRCm39) missense probably damaging 0.99
R4602:Atp1a4 UTSW 1 172,067,332 (GRCm39) missense probably damaging 1.00
R4670:Atp1a4 UTSW 1 172,062,567 (GRCm39) missense probably benign 0.07
R4674:Atp1a4 UTSW 1 172,085,223 (GRCm39) missense possibly damaging 0.81
R4675:Atp1a4 UTSW 1 172,085,223 (GRCm39) missense possibly damaging 0.81
R4785:Atp1a4 UTSW 1 172,081,677 (GRCm39) nonsense probably null
R4958:Atp1a4 UTSW 1 172,058,718 (GRCm39) missense probably damaging 1.00
R5015:Atp1a4 UTSW 1 172,081,649 (GRCm39) missense probably damaging 1.00
R5149:Atp1a4 UTSW 1 172,059,572 (GRCm39) missense probably damaging 1.00
R5234:Atp1a4 UTSW 1 172,054,737 (GRCm39) missense possibly damaging 0.73
R5501:Atp1a4 UTSW 1 172,074,399 (GRCm39) missense probably damaging 1.00
R5682:Atp1a4 UTSW 1 172,081,730 (GRCm39) missense probably damaging 0.99
R5872:Atp1a4 UTSW 1 172,071,975 (GRCm39) missense probably damaging 1.00
R5933:Atp1a4 UTSW 1 172,059,841 (GRCm39) missense possibly damaging 0.91
R7087:Atp1a4 UTSW 1 172,074,269 (GRCm39) missense probably damaging 1.00
R7122:Atp1a4 UTSW 1 172,059,503 (GRCm39) missense possibly damaging 0.47
R7381:Atp1a4 UTSW 1 172,067,682 (GRCm39) missense possibly damaging 0.70
R7431:Atp1a4 UTSW 1 172,078,474 (GRCm39) missense probably benign 0.31
R8269:Atp1a4 UTSW 1 172,059,892 (GRCm39) missense probably damaging 1.00
R8400:Atp1a4 UTSW 1 172,062,061 (GRCm39) missense probably damaging 1.00
R8559:Atp1a4 UTSW 1 172,078,897 (GRCm39) missense probably damaging 1.00
R8680:Atp1a4 UTSW 1 172,078,566 (GRCm39) missense probably damaging 1.00
R8777:Atp1a4 UTSW 1 172,059,869 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Atp1a4 UTSW 1 172,059,869 (GRCm39) missense probably damaging 1.00
R8867:Atp1a4 UTSW 1 172,072,491 (GRCm39) missense probably damaging 0.99
R8869:Atp1a4 UTSW 1 172,054,690 (GRCm39) missense probably benign
R9260:Atp1a4 UTSW 1 172,074,359 (GRCm39) missense probably damaging 1.00
R9300:Atp1a4 UTSW 1 172,067,398 (GRCm39) missense probably damaging 1.00
R9545:Atp1a4 UTSW 1 172,078,464 (GRCm39) missense probably benign 0.35
Z1176:Atp1a4 UTSW 1 172,059,521 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- GGCAGTTTGCTTTGGCCATC -3'
(R):5'- AGCTTTACCACTCAGACTTGC -3'

Sequencing Primer
(F):5'- TTGGCCATCCTCACCATAAC -3'
(R):5'- TCCTTTCCTATGCTTATAGATAGCC -3'
Posted On 2018-08-01