Incidental Mutation 'R0276:Atp1a4'
ID 35341
Institutional Source Beutler Lab
Gene Symbol Atp1a4
Ensembl Gene ENSMUSG00000007107
Gene Name ATPase, Na+/K+ transporting, alpha 4 polypeptide
Synonyms
MMRRC Submission 038498-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0276 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 172051080-172085981 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 172085468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 45 (K45M)
Ref Sequence ENSEMBL: ENSMUSP00000106874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111243] [ENSMUST00000139528]
AlphaFold Q9WV27
Predicted Effect probably damaging
Transcript: ENSMUST00000111243
AA Change: K45M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106874
Gene: ENSMUSG00000007107
AA Change: K45M

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 0.3201 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.8%
  • 10x: 96.2%
  • 20x: 93.8%
Validation Efficiency 98% (101/103)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A G 2: 26,865,772 (GRCm39) N109S possibly damaging Het
Adcy10 T A 1: 165,400,160 (GRCm39) M1523K possibly damaging Het
Agtpbp1 C T 13: 59,609,845 (GRCm39) S1095N possibly damaging Het
Ang2 C T 14: 51,432,975 (GRCm39) V136I probably damaging Het
Arhgap10 A T 8: 78,140,210 (GRCm39) M250K probably benign Het
Arhgap33 A T 7: 30,222,669 (GRCm39) W1088R probably benign Het
Arhgef15 T C 11: 68,844,298 (GRCm39) probably benign Het
Aspm T C 1: 139,406,209 (GRCm39) S1699P possibly damaging Het
Atp12a C A 14: 56,625,151 (GRCm39) D1014E probably damaging Het
Atp8a1 A T 5: 67,944,016 (GRCm39) probably benign Het
Baiap3 A C 17: 25,462,661 (GRCm39) F1099C probably damaging Het
Bcas3 T A 11: 85,361,663 (GRCm39) probably null Het
Bms1 G A 6: 118,385,095 (GRCm39) T371M possibly damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Capn3 T C 2: 120,318,546 (GRCm39) probably benign Het
Ccdc180 A G 4: 45,923,534 (GRCm39) D1105G probably damaging Het
Ccdc33 G T 9: 57,965,675 (GRCm39) P364Q probably damaging Het
Clstn3 A G 6: 124,408,699 (GRCm39) probably benign Het
Cntrl A T 2: 35,041,744 (GRCm39) Y619F possibly damaging Het
Col12a1 A T 9: 79,538,023 (GRCm39) Y2514* probably null Het
Cpt1b T C 15: 89,304,162 (GRCm39) H503R probably benign Het
Crb1 T A 1: 139,251,073 (GRCm39) T293S possibly damaging Het
D130043K22Rik C T 13: 25,042,028 (GRCm39) T319I possibly damaging Het
Dnaaf10 T C 11: 17,179,821 (GRCm39) I274T probably benign Het
Dzip1l G A 9: 99,543,051 (GRCm39) R502Q probably benign Het
Efcab5 A G 11: 77,020,702 (GRCm39) M673T probably damaging Het
Efcab5 G A 11: 77,031,749 (GRCm39) R42W probably damaging Het
F2rl3 A G 8: 73,489,426 (GRCm39) T218A probably benign Het
Fam135a C T 1: 24,107,045 (GRCm39) R31H probably damaging Het
Fcer2a A T 8: 3,739,811 (GRCm39) N53K possibly damaging Het
Golgb1 A C 16: 36,734,238 (GRCm39) K1162Q probably damaging Het
Gpr137b A T 13: 13,542,160 (GRCm39) probably benign Het
Haspin A T 11: 73,027,313 (GRCm39) L592Q probably damaging Het
Helq A G 5: 100,938,013 (GRCm39) F478L probably damaging Het
Iho1 A T 9: 108,305,639 (GRCm39) M11K possibly damaging Het
Il17rb T A 14: 29,726,337 (GRCm39) T84S probably damaging Het
Itga4 T C 2: 79,151,837 (GRCm39) L880P probably damaging Het
Itih5 A G 2: 10,190,375 (GRCm39) I61V possibly damaging Het
Ivl G A 3: 92,478,821 (GRCm39) L415F unknown Het
Kif2a A G 13: 107,113,158 (GRCm39) probably benign Het
Kmt2d T C 15: 98,748,192 (GRCm39) probably benign Het
Lars2 A G 9: 123,267,186 (GRCm39) probably benign Het
Lilrb4a T C 10: 51,367,677 (GRCm39) V73A probably benign Het
Lratd2 G T 15: 60,695,523 (GRCm39) Y74* probably null Het
Lrrc8a A G 2: 30,146,800 (GRCm39) D538G possibly damaging Het
Lrrk1 G A 7: 65,946,011 (GRCm39) probably benign Het
Mc2r A T 18: 68,541,203 (GRCm39) I30K possibly damaging Het
Mybbp1a C A 11: 72,340,933 (GRCm39) probably null Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Ncam2 A G 16: 81,314,517 (GRCm39) probably benign Het
Nlk T C 11: 78,462,301 (GRCm39) I509V probably benign Het
Nlrp2 A T 7: 5,331,108 (GRCm39) N429K probably benign Het
Nlrp9b A G 7: 19,762,423 (GRCm39) T247A probably benign Het
Noxo1 A T 17: 24,919,136 (GRCm39) probably null Het
Or1n1b A T 2: 36,780,035 (GRCm39) M275K probably benign Het
Or2ag2b A T 7: 106,417,904 (GRCm39) I205L probably benign Het
Or3a10 A G 11: 73,935,944 (GRCm39) I52T probably damaging Het
Or4c107 T A 2: 88,789,099 (GRCm39) C96* probably null Het
Or4m1 C A 14: 50,557,636 (GRCm39) A219S probably benign Het
Oxr1 T C 15: 41,683,458 (GRCm39) S294P probably damaging Het
Pfpl A G 19: 12,406,601 (GRCm39) Y284C probably damaging Het
Pi16 A T 17: 29,545,917 (GRCm39) T232S probably benign Het
Plcxd2 A T 16: 45,830,070 (GRCm39) N50K probably benign Het
Plekhn1 T A 4: 156,312,703 (GRCm39) N52Y probably damaging Het
Prl2c5 T C 13: 13,357,634 (GRCm39) probably benign Het
Prrc2b G A 2: 32,109,666 (GRCm39) V1080I probably damaging Het
Psg28 A T 7: 18,164,321 (GRCm39) N130K probably benign Het
Psme4 C A 11: 30,761,980 (GRCm39) T440K probably damaging Het
Ptcd2 T C 13: 99,458,104 (GRCm39) K296E probably benign Het
Ptprq T C 10: 107,378,596 (GRCm39) probably null Het
Rab5b A C 10: 128,522,615 (GRCm39) probably null Het
Rft1 T A 14: 30,412,540 (GRCm39) S534T probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rsu1 A T 2: 13,174,946 (GRCm39) probably benign Het
Senp6 A G 9: 80,044,029 (GRCm39) M887V probably benign Het
Sgcz T A 8: 38,420,073 (GRCm39) M60L probably benign Het
Siglec1 G A 2: 130,925,861 (GRCm39) Q282* probably null Het
Sipa1l2 T C 8: 126,148,679 (GRCm39) T1655A probably damaging Het
Slc28a2b T A 2: 122,352,409 (GRCm39) S389T probably damaging Het
Slc43a3 G A 2: 84,768,007 (GRCm39) probably benign Het
Snx29 T C 16: 11,556,237 (GRCm39) V756A probably benign Het
Spta1 T A 1: 174,045,460 (GRCm39) H1539Q probably damaging Het
Stk3 A C 15: 35,099,615 (GRCm39) S104A probably damaging Het
Stk38 C A 17: 29,211,390 (GRCm39) probably null Het
Stx6 T C 1: 155,049,909 (GRCm39) probably benign Het
Thbs4 G A 13: 92,912,040 (GRCm39) T230I probably benign Het
Thrsp A G 7: 97,066,709 (GRCm39) M1T probably null Het
Tmem63b A T 17: 45,986,299 (GRCm39) probably benign Het
Top2a A G 11: 98,900,733 (GRCm39) probably benign Het
Tpd52l2 T C 2: 181,143,852 (GRCm39) probably null Het
Trak1 A G 9: 121,283,404 (GRCm39) E390G probably damaging Het
Trappc3 T A 4: 126,167,745 (GRCm39) D101E possibly damaging Het
Trhr A G 15: 44,060,482 (GRCm39) M1V probably null Het
Triobp T A 15: 78,857,876 (GRCm39) I1159K probably benign Het
Unc45a A G 7: 79,976,045 (GRCm39) probably benign Het
Usb1 A G 8: 96,060,085 (GRCm39) D12G probably damaging Het
Ushbp1 C T 8: 71,847,293 (GRCm39) C113Y possibly damaging Het
Vim A G 2: 13,579,670 (GRCm39) K143R probably benign Het
Vmn2r75 T C 7: 85,797,515 (GRCm39) K766R probably benign Het
Xpo5 T G 17: 46,552,433 (GRCm39) C1089G probably damaging 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
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
R6722:Atp1a4 UTSW 1 172,085,617 (GRCm39) unclassified probably benign
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'- GGCACTCAGCTCATCCAACGTTAG -3'
(R):5'- TTGAGCAGAGCCAGCTATACCTAGAG -3'

Sequencing Primer
(F):5'- TTATTAAGGTGAGACGGTGACCTC -3'
(R):5'- CCTAGAGATCATATTATGGAGCCTG -3'
Posted On 2013-05-09