Incidental Mutation 'R7184:Fxyd1'
ID 559181
Institutional Source Beutler Lab
Gene Symbol Fxyd1
Ensembl Gene ENSMUSG00000036570
Gene Name FXYD domain-containing ion transport regulator 1
Synonyms PLM, PML, 1110006M24Rik, 0610012C17Rik, phospholemman
MMRRC Submission 045236-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7184 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30751103-30756624 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 30751401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 90 (R90S)
Ref Sequence ENSEMBL: ENSMUSP00000145589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039909] [ENSMUST00000071697] [ENSMUST00000073892] [ENSMUST00000108110] [ENSMUST00000205439] [ENSMUST00000205778] [ENSMUST00000206305] [ENSMUST00000205807] [ENSMUST00000206012] [ENSMUST00000206328] [ENSMUST00000206341] [ENSMUST00000206474] [ENSMUST00000206860]
AlphaFold Q9Z239
Predicted Effect unknown
Transcript: ENSMUST00000039909
AA Change: R90S
SMART Domains Protein: ENSMUSP00000048460
Gene: ENSMUSG00000036570
AA Change: R90S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 23 72 1.1e-31 PFAM
low complexity region 81 92 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000071697
AA Change: R90S
SMART Domains Protein: ENSMUSP00000071617
Gene: ENSMUSG00000036570
AA Change: R90S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 23 72 1.1e-31 PFAM
low complexity region 81 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073892
SMART Domains Protein: ENSMUSP00000073555
Gene: ENSMUSG00000036578

DomainStartEndE-ValueType
Pfam:ATP1G1_PLM_MAT8 13 60 1.2e-23 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000108110
AA Change: R90S
SMART Domains Protein: ENSMUSP00000103745
Gene: ENSMUSG00000036570
AA Change: R90S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 24 70 1.4e-31 PFAM
low complexity region 81 92 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000205439
AA Change: R90S
Predicted Effect unknown
Transcript: ENSMUST00000205778
AA Change: R90S
Predicted Effect unknown
Transcript: ENSMUST00000206305
AA Change: R90S
Predicted Effect unknown
Transcript: ENSMUST00000205807
AA Change: R65S
Predicted Effect unknown
Transcript: ENSMUST00000206012
AA Change: R90S
Predicted Effect
Predicted Effect unknown
Transcript: ENSMUST00000206328
AA Change: R90S
Predicted Effect probably benign
Transcript: ENSMUST00000206341
Predicted Effect unknown
Transcript: ENSMUST00000206474
AA Change: R90S
Predicted Effect unknown
Transcript: ENSMUST00000206860
AA Change: R90S
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: This gene encodes a member of the FXYD family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity and act as an accessory protein of Na,K-ATPase. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2009]
PHENOTYPE: Adult mice homozygous for a knock-out allele exhibit cardiac hypertrophy, increased ejection fraction, and a 50% reduction in total Na-K-ATPase activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,094,219 (GRCm39) S500P possibly damaging Het
Aldh9a1 T A 1: 167,184,965 (GRCm39) N292K probably benign Het
Art2b A T 7: 101,229,658 (GRCm39) S80R probably benign Het
Atp6v1b2 G T 8: 69,555,219 (GRCm39) A194S possibly damaging Het
Bsnd T C 4: 106,349,109 (GRCm39) M44V probably damaging Het
Cadps2 A T 6: 23,583,428 (GRCm39) V383E probably benign Het
Cd93 T C 2: 148,284,459 (GRCm39) T296A possibly damaging Het
Cdk15 G T 1: 59,304,814 (GRCm39) E138D probably benign Het
Cdon A G 9: 35,375,191 (GRCm39) I406V probably benign Het
Cfhr4 A G 1: 139,660,822 (GRCm39) V622A possibly damaging Het
Cyp3a41a A G 5: 145,642,663 (GRCm39) V232A probably benign Het
Dbndd1 T A 8: 124,235,860 (GRCm39) D130V probably damaging Het
Dnah14 C T 1: 181,532,094 (GRCm39) R2294* probably null Het
Eddm3b A G 14: 51,354,387 (GRCm39) Y125C probably damaging Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Enah A T 1: 181,749,957 (GRCm39) V294E probably damaging Het
Farp2 A G 1: 93,531,137 (GRCm39) E545G probably damaging Het
Farsb T C 1: 78,458,994 (GRCm39) E22G possibly damaging Het
Fcsk G A 8: 111,613,788 (GRCm39) P758S probably damaging Het
Fezf1 A G 6: 23,247,835 (GRCm39) V80A probably benign Het
Fpr2 T C 17: 18,113,533 (GRCm39) Y39H unknown Het
Fsd1l C A 4: 53,694,054 (GRCm39) R344S probably damaging Het
Galnt4 T A 10: 98,944,466 (GRCm39) Y64N probably damaging Het
Gatb C T 3: 85,544,258 (GRCm39) Q409* probably null Het
Glipr2 A C 4: 43,968,667 (GRCm39) D73A possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr88 C T 3: 116,045,643 (GRCm39) V223I possibly damaging Het
Gtf2h3 A G 5: 124,722,067 (GRCm39) N55S probably benign Het
Htr4 T A 18: 62,570,498 (GRCm39) C184* probably null Het
Ighv6-3 T A 12: 114,355,475 (GRCm39) R71S probably benign Het
Itpr2 G C 6: 146,212,585 (GRCm39) I1510M possibly damaging Het
Keap1 T C 9: 21,145,134 (GRCm39) Q292R probably benign Het
Mab21l4 T C 1: 93,082,237 (GRCm39) N294S probably benign Het
Malt1 A C 18: 65,580,764 (GRCm39) E219D probably benign Het
Manba T C 3: 135,228,915 (GRCm39) V279A possibly damaging Het
Map4k5 T A 12: 69,921,095 (GRCm39) H41L probably benign Het
Mcm2 T G 6: 88,868,776 (GRCm39) Y327S probably damaging Het
Nectin3 A G 16: 46,215,484 (GRCm39) I503T possibly damaging Het
Nqo1 T C 8: 108,119,279 (GRCm39) I99M probably damaging Het
Nrxn2 A G 19: 6,540,582 (GRCm39) H845R probably damaging Het
Otogl C T 10: 107,599,061 (GRCm39) C2254Y probably damaging Het
Pmm1 T C 15: 81,840,415 (GRCm39) N110S probably damaging Het
Poc1b G T 10: 98,970,199 (GRCm39) C68F probably benign Het
Polr1b A G 2: 128,965,842 (GRCm39) Y828C possibly damaging Het
Prl3d1 A G 13: 27,282,619 (GRCm39) H119R probably damaging Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rusc1 T C 3: 88,999,194 (GRCm39) E196G possibly damaging Het
Sf3a3 A G 4: 124,608,772 (GRCm39) K29E probably benign Het
Slc13a1 A T 6: 24,092,311 (GRCm39) I475K probably damaging Het
Slc26a5 G T 5: 22,042,244 (GRCm39) Y237* probably null Het
Slc7a14 C T 3: 31,281,212 (GRCm39) G366D probably damaging Het
Tbc1d5 A G 17: 51,107,110 (GRCm39) V482A probably benign Het
Tdrd5 G T 1: 156,087,505 (GRCm39) Q883K probably benign Het
Tet2 T C 3: 133,179,391 (GRCm39) Y1258C probably damaging Het
Upf2 A G 2: 6,028,131 (GRCm39) D739G unknown Het
Vmn1r122 A T 7: 20,867,820 (GRCm39) F78L probably benign Het
Vmn1r75 A T 7: 11,614,915 (GRCm39) K216* probably null Het
Vmn2r11 A T 5: 109,201,281 (GRCm39) Y408N probably damaging Het
Wscd1 T A 11: 71,679,543 (GRCm39) V472D probably damaging Het
Zdbf2 G T 1: 63,345,664 (GRCm39) V1348F possibly damaging Het
Zfp442 G T 2: 150,250,056 (GRCm39) H615Q possibly damaging Het
Zfp457 C A 13: 67,442,065 (GRCm39) C170F possibly damaging Het
Zscan10 A G 17: 23,826,003 (GRCm39) probably null Het
Other mutations in Fxyd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6150:Fxyd1 UTSW 7 30,754,228 (GRCm39) splice site probably null
R7099:Fxyd1 UTSW 7 30,752,458 (GRCm39) missense probably damaging 1.00
R7303:Fxyd1 UTSW 7 30,753,743 (GRCm39) missense probably benign
R7729:Fxyd1 UTSW 7 30,752,896 (GRCm39) missense probably damaging 1.00
R8499:Fxyd1 UTSW 7 30,752,529 (GRCm39) intron probably benign
Z1186:Fxyd1 UTSW 7 30,751,377 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GAGTTTTATTAGAGGTCTGAGCAGC -3'
(R):5'- GAACTTTCCGCAGCTCCATC -3'

Sequencing Primer
(F):5'- TGGTCACAGGCGAGCATCTG -3'
(R):5'- TCCATCCGCCGTGAGTTCG -3'
Posted On 2019-06-26