Incidental Mutation 'R0525:Atp1a4'
ID 48819
Institutional Source Beutler Lab
Gene Symbol Atp1a4
Ensembl Gene ENSMUSG00000007107
Gene Name ATPase, Na+/K+ transporting, alpha 4 polypeptide
Synonyms
MMRRC Submission 038718-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0525 (G1)
Quality Score 147
Status Validated
Chromosome 1
Chromosomal Location 172223513-172258414 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 172239688 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111243]
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 noncoding transcript
Transcript: ENSMUST00000191616
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (72/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T A 7: 125,331,499 (GRCm38) noncoding transcript Het
A930002H24Rik A G 17: 63,863,647 (GRCm38) W49R unknown Het
Abca13 G A 11: 9,293,371 (GRCm38) V1745M probably damaging Het
Abca16 T G 7: 120,465,810 (GRCm38) Y563* probably null Het
Acot12 C T 13: 91,760,067 (GRCm38) probably benign Het
Alms1 G A 6: 85,587,760 (GRCm38) A39T unknown Het
Arid5b T C 10: 68,097,846 (GRCm38) D742G possibly damaging Het
AU021092 T A 16: 5,217,861 (GRCm38) E145V possibly damaging Het
Calr4 A T 4: 109,242,264 (GRCm38) probably benign Het
Clip4 T A 17: 71,799,098 (GRCm38) probably null Het
Cnpy4 A T 5: 138,192,616 (GRCm38) H180L probably benign Het
Cyp2j9 T C 4: 96,579,565 (GRCm38) probably null Het
Dgkq A G 5: 108,654,615 (GRCm38) S406P probably damaging Het
Dhx8 G A 11: 101,763,928 (GRCm38) C1014Y probably damaging Het
Dnah3 T C 7: 119,928,754 (GRCm38) Y3824C probably damaging Het
Donson A T 16: 91,686,245 (GRCm38) H69Q probably damaging Het
Dppa3 A G 6: 122,629,980 (GRCm38) E143G probably damaging Het
Drg1 A G 11: 3,262,545 (GRCm38) F96L probably damaging Het
Dvl1 A C 4: 155,855,595 (GRCm38) T395P probably damaging Het
Eftud2 A T 11: 102,839,253 (GRCm38) V897D probably damaging Het
Enpp6 A G 8: 47,082,443 (GRCm38) N341S possibly damaging Het
F11 A G 8: 45,253,049 (GRCm38) F100L probably benign Het
Fas T C 19: 34,319,327 (GRCm38) Y189H probably damaging Het
Galnt14 G T 17: 73,545,081 (GRCm38) S114R probably damaging Het
Gfpt2 A G 11: 49,829,775 (GRCm38) I528V probably benign Het
Glt6d1 A G 2: 25,794,268 (GRCm38) V242A possibly damaging Het
Grm1 A T 10: 10,719,209 (GRCm38) probably benign Het
Gskip G A 12: 105,698,965 (GRCm38) A88T probably damaging Het
Gtpbp1 A G 15: 79,713,447 (GRCm38) I348V probably benign Het
Hnrnpul1 C A 7: 25,740,883 (GRCm38) R316L possibly damaging Het
Il34 T C 8: 110,748,283 (GRCm38) E121G probably damaging Het
Lrr1 T C 12: 69,168,911 (GRCm38) L19P probably damaging Het
Mat2b A G 11: 40,682,669 (GRCm38) probably benign Het
Mettl21e T C 1: 44,206,382 (GRCm38) K235E probably damaging Het
Mir124-2hg T A 3: 17,785,529 (GRCm38) E126V possibly damaging Het
Myh15 A G 16: 49,132,051 (GRCm38) K828R probably benign Het
Myom3 A G 4: 135,764,926 (GRCm38) D127G possibly damaging Het
Nek5 C A 8: 22,079,077 (GRCm38) probably benign Het
Nudt7 A T 8: 114,151,652 (GRCm38) probably null Het
Olfr1056 C T 2: 86,356,275 (GRCm38) V36I probably benign Het
Olfr1118 A T 2: 87,309,349 (GRCm38) T187S probably benign Het
Olfr1200 G A 2: 88,767,314 (GRCm38) Q334* probably null Het
Olfr350 T C 2: 36,850,190 (GRCm38) L48P probably damaging Het
Olfr961 T G 9: 39,647,471 (GRCm38) C248W probably damaging Het
Phyhd1 A G 2: 30,281,028 (GRCm38) H241R probably damaging Het
Pmch T C 10: 88,091,400 (GRCm38) probably benign Het
Ror1 A G 4: 100,441,520 (GRCm38) S697G probably damaging Het
Rslcan18 A G 13: 67,112,258 (GRCm38) V25A probably benign Het
Sema6b T C 17: 56,126,630 (GRCm38) H426R probably damaging Het
Serpina3g T C 12: 104,238,339 (GRCm38) F9S probably damaging Het
Serpinb12 T A 1: 106,946,702 (GRCm38) H52Q probably benign Het
Sh3gl1 T C 17: 56,017,873 (GRCm38) K294R probably benign Het
Sidt1 G T 16: 44,259,446 (GRCm38) T615K possibly damaging Het
Slc16a4 A C 3: 107,297,939 (GRCm38) probably benign Het
Sned1 T A 1: 93,271,974 (GRCm38) probably null Het
Sp2 A T 11: 96,956,098 (GRCm38) probably benign Het
Steap1 T A 5: 5,742,903 (GRCm38) I3F possibly damaging Het
Stxbp5l A T 16: 37,129,797 (GRCm38) probably null Het
Tbc1d9 G T 8: 83,268,985 (GRCm38) V968F probably benign Het
Tnfrsf21 C T 17: 43,038,213 (GRCm38) H239Y probably benign Het
Triobp T C 15: 78,973,898 (GRCm38) L1233P possibly damaging Het
Trp53bp1 C A 2: 121,251,868 (GRCm38) A317S probably null Het
Trpc4ap A G 2: 155,640,478 (GRCm38) F531L possibly damaging Het
Ugt1a10 C T 1: 88,218,249 (GRCm38) P473L probably damaging Het
Vmn1r86 T C 7: 13,102,161 (GRCm38) K213E probably benign Het
Vps8 G A 16: 21,540,109 (GRCm38) probably null Het
Wnk1 A T 6: 119,926,564 (GRCm38) S2563T probably damaging Het
Yrdc C G 4: 124,851,766 (GRCm38) R3G probably damaging Het
Zfp287 A T 11: 62,715,244 (GRCm38) V279E probably benign Het
Other mutations in Atp1a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Atp1a4 APN 1 172,239,806 (GRCm38) missense probably damaging 1.00
IGL00924:Atp1a4 APN 1 172,246,772 (GRCm38) missense probably damaging 1.00
IGL01288:Atp1a4 APN 1 172,257,907 (GRCm38) missense possibly damaging 0.77
IGL01665:Atp1a4 APN 1 172,246,724 (GRCm38) missense probably benign
IGL02156:Atp1a4 APN 1 172,257,962 (GRCm38) missense probably benign
IGL02170:Atp1a4 APN 1 172,234,536 (GRCm38) missense possibly damaging 0.94
IGL02228:Atp1a4 APN 1 172,254,885 (GRCm38) missense possibly damaging 0.69
IGL02505:Atp1a4 APN 1 172,235,075 (GRCm38) missense probably damaging 1.00
IGL02653:Atp1a4 APN 1 172,251,406 (GRCm38) missense possibly damaging 0.81
IGL02792:Atp1a4 APN 1 172,227,299 (GRCm38) critical splice donor site probably null
IGL02794:Atp1a4 APN 1 172,244,086 (GRCm38) missense probably benign 0.13
IGL03102:Atp1a4 APN 1 172,231,151 (GRCm38) missense probably damaging 1.00
R0046:Atp1a4 UTSW 1 172,240,097 (GRCm38) missense probably benign 0.09
R0046:Atp1a4 UTSW 1 172,240,097 (GRCm38) missense probably benign 0.09
R0276:Atp1a4 UTSW 1 172,257,901 (GRCm38) missense probably damaging 1.00
R0309:Atp1a4 UTSW 1 172,234,987 (GRCm38) missense probably damaging 1.00
R0615:Atp1a4 UTSW 1 172,232,060 (GRCm38) splice site probably benign
R0730:Atp1a4 UTSW 1 172,240,207 (GRCm38) splice site probably benign
R1412:Atp1a4 UTSW 1 172,232,009 (GRCm38) missense probably damaging 0.97
R1652:Atp1a4 UTSW 1 172,254,903 (GRCm38) missense probably damaging 1.00
R1898:Atp1a4 UTSW 1 172,235,048 (GRCm38) missense probably damaging 0.99
R1968:Atp1a4 UTSW 1 172,240,164 (GRCm38) missense probably benign
R2291:Atp1a4 UTSW 1 172,244,906 (GRCm38) missense probably damaging 1.00
R2897:Atp1a4 UTSW 1 172,246,690 (GRCm38) missense probably damaging 1.00
R2908:Atp1a4 UTSW 1 172,234,477 (GRCm38) missense probably benign
R3119:Atp1a4 UTSW 1 172,239,826 (GRCm38) missense probably damaging 0.99
R3731:Atp1a4 UTSW 1 172,233,961 (GRCm38) missense probably damaging 1.00
R4447:Atp1a4 UTSW 1 172,234,431 (GRCm38) missense probably damaging 0.99
R4602:Atp1a4 UTSW 1 172,239,765 (GRCm38) missense probably damaging 1.00
R4670:Atp1a4 UTSW 1 172,235,000 (GRCm38) missense probably benign 0.07
R4674:Atp1a4 UTSW 1 172,257,656 (GRCm38) missense possibly damaging 0.81
R4675:Atp1a4 UTSW 1 172,257,656 (GRCm38) missense possibly damaging 0.81
R4785:Atp1a4 UTSW 1 172,254,110 (GRCm38) nonsense probably null
R4958:Atp1a4 UTSW 1 172,231,151 (GRCm38) missense probably damaging 1.00
R5015:Atp1a4 UTSW 1 172,254,082 (GRCm38) missense probably damaging 1.00
R5149:Atp1a4 UTSW 1 172,232,005 (GRCm38) missense probably damaging 1.00
R5234:Atp1a4 UTSW 1 172,227,170 (GRCm38) missense possibly damaging 0.73
R5501:Atp1a4 UTSW 1 172,246,832 (GRCm38) missense probably damaging 1.00
R5682:Atp1a4 UTSW 1 172,254,163 (GRCm38) missense probably damaging 0.99
R5872:Atp1a4 UTSW 1 172,244,408 (GRCm38) missense probably damaging 1.00
R5933:Atp1a4 UTSW 1 172,232,274 (GRCm38) missense possibly damaging 0.91
R6722:Atp1a4 UTSW 1 172,258,050 (GRCm38) unclassified probably benign
R7087:Atp1a4 UTSW 1 172,246,702 (GRCm38) missense probably damaging 1.00
R7122:Atp1a4 UTSW 1 172,231,936 (GRCm38) missense possibly damaging 0.47
R7381:Atp1a4 UTSW 1 172,240,115 (GRCm38) missense possibly damaging 0.70
R7431:Atp1a4 UTSW 1 172,250,907 (GRCm38) missense probably benign 0.31
R8269:Atp1a4 UTSW 1 172,232,325 (GRCm38) missense probably damaging 1.00
R8400:Atp1a4 UTSW 1 172,234,494 (GRCm38) missense probably damaging 1.00
R8559:Atp1a4 UTSW 1 172,251,330 (GRCm38) missense probably damaging 1.00
R8680:Atp1a4 UTSW 1 172,250,999 (GRCm38) missense probably damaging 1.00
R8777:Atp1a4 UTSW 1 172,232,302 (GRCm38) missense probably damaging 1.00
R8777-TAIL:Atp1a4 UTSW 1 172,232,302 (GRCm38) missense probably damaging 1.00
R8867:Atp1a4 UTSW 1 172,244,924 (GRCm38) missense probably damaging 0.99
R8869:Atp1a4 UTSW 1 172,227,123 (GRCm38) missense probably benign
R9260:Atp1a4 UTSW 1 172,246,792 (GRCm38) missense probably damaging 1.00
R9300:Atp1a4 UTSW 1 172,239,831 (GRCm38) missense probably damaging 1.00
R9545:Atp1a4 UTSW 1 172,250,897 (GRCm38) missense probably benign 0.35
Z1176:Atp1a4 UTSW 1 172,231,954 (GRCm38) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- CACATTGGTCGAAGCACTGTGTTTG -3'
(R):5'- TCCAGTTTCCTGCTGAATGGGC -3'

Sequencing Primer
(F):5'- actgatgcctaagagtcatcc -3'
(R):5'- TGGACTTCCAGAATGCCTACATAG -3'
Posted On 2013-06-12