Incidental Mutation 'IGL02792:Atp1a4'
ID 359816
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp1a4
Ensembl Gene ENSMUSG00000007107
Gene Name ATPase, Na+/K+ transporting, alpha 4 polypeptide
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02792
Quality Score
Status
Chromosome 1
Chromosomal Location 172051080-172085981 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 172054866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111243]
AlphaFold Q9WV27
Predicted Effect probably null
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
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 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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G A 17: 48,401,107 (GRCm39) V131M probably benign Het
Abca6 A T 11: 110,079,507 (GRCm39) C1216S probably damaging Het
Acly T C 11: 100,369,236 (GRCm39) K1018E probably damaging Het
Acsl5 G A 19: 55,282,163 (GRCm39) probably null Het
Adgrb1 C A 15: 74,419,471 (GRCm39) L771I probably damaging Het
Adh7 A T 3: 137,929,498 (GRCm39) K89I probably damaging Het
Adora2b A T 11: 62,156,309 (GRCm39) I253F possibly damaging Het
Akna G A 4: 63,295,943 (GRCm39) P975S possibly damaging Het
Alg9 T C 9: 50,754,048 (GRCm39) L576P possibly damaging Het
Arhgap20 A G 9: 51,761,218 (GRCm39) E1023G possibly damaging Het
Astn2 A T 4: 65,563,058 (GRCm39) S908T probably benign Het
Cabin1 T C 10: 75,582,573 (GRCm39) Y281C probably damaging Het
Cdc42bpb G T 12: 111,265,995 (GRCm39) F1312L probably benign Het
Cfap65 A C 1: 74,966,337 (GRCm39) F330C probably damaging Het
Col27a1 C T 4: 63,233,820 (GRCm39) P689S unknown Het
Col4a3 A T 1: 82,696,524 (GRCm39) K1643N probably damaging Het
Dop1b T A 16: 93,598,460 (GRCm39) V1875D possibly damaging Het
Eftud2 A G 11: 102,761,082 (GRCm39) probably benign Het
Ergic3 C A 2: 155,859,770 (GRCm39) T357K probably damaging Het
Glra1 A T 11: 55,427,226 (GRCm39) D36E probably damaging Het
Gpatch1 A G 7: 35,001,018 (GRCm39) Y330H probably damaging Het
Hmcn2 T C 2: 31,236,602 (GRCm39) S382P probably damaging Het
Kat6a G A 8: 23,428,316 (GRCm39) E1224K probably damaging Het
Klk13 A G 7: 43,370,838 (GRCm39) E29G possibly damaging Het
Klra9 T C 6: 130,165,643 (GRCm39) D124G probably benign Het
Lrmda T C 14: 22,069,978 (GRCm39) probably null Het
Ltbp1 G A 17: 75,589,989 (GRCm39) V539M probably damaging Het
Ngfr A C 11: 95,462,687 (GRCm39) L317R probably damaging Het
Nlrp6 C A 7: 140,502,348 (GRCm39) H151Q probably damaging Het
Nnt A G 13: 119,494,182 (GRCm39) L633P probably damaging Het
Nxpe3 C T 16: 55,686,535 (GRCm39) V158M probably damaging Het
Or11i1 T C 3: 106,729,456 (GRCm39) T140A probably damaging Het
Or2d36 T C 7: 106,747,425 (GRCm39) F301L probably benign Het
Or7g16 C T 9: 18,727,254 (GRCm39) S112N probably benign Het
Pla2g4f T C 2: 120,133,850 (GRCm39) Y517C probably damaging Het
Poc1a A T 9: 106,172,393 (GRCm39) I207F possibly damaging Het
Polr2a A G 11: 69,636,938 (GRCm39) S338P probably damaging Het
Ptprz1 T C 6: 22,959,722 (GRCm39) V73A probably damaging Het
Relb A T 7: 19,347,789 (GRCm39) L281Q probably damaging Het
Rrp8 A T 7: 105,383,018 (GRCm39) L382* probably null Het
Setd1a C T 7: 127,390,522 (GRCm39) S523F unknown Het
Slamf8 A G 1: 172,415,697 (GRCm39) I47T probably damaging Het
Slc16a4 G A 3: 107,206,193 (GRCm39) A88T probably benign Het
Sox6 C T 7: 115,140,884 (GRCm39) M532I probably benign Het
Tcp11l1 T A 2: 104,512,165 (GRCm39) Y489F probably benign Het
Tdrd6 T G 17: 43,935,918 (GRCm39) D1710A probably benign Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Vangl1 A T 3: 102,070,739 (GRCm39) I399N probably damaging Het
Vmn1r201 T C 13: 22,659,014 (GRCm39) L76P probably damaging Het
Vmn1r58 T C 7: 5,414,228 (GRCm39) M1V probably null Het
Wdfy4 T C 14: 32,817,262 (GRCm39) I1561V probably benign Het
Xkr9 A G 1: 13,771,027 (GRCm39) D181G probably damaging Het
Zfp318 T C 17: 46,720,104 (GRCm39) F1101L probably damaging Het
Zfpm2 C A 15: 40,966,409 (GRCm39) Q833K probably benign 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
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
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
Posted On 2015-12-18