Incidental Mutation 'R8499:Fxyd1'
ID 658414
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 067941-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8499 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30751103-30756624 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to A at 30752529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039909] [ENSMUST00000071697] [ENSMUST00000073892] [ENSMUST00000108110] [ENSMUST00000205439] [ENSMUST00000205778] [ENSMUST00000205807] [ENSMUST00000206012] [ENSMUST00000206305] [ENSMUST00000206328] [ENSMUST00000206341] [ENSMUST00000206474] [ENSMUST00000206860]
AlphaFold Q9Z239
Predicted Effect probably benign
Transcript: ENSMUST00000039909
SMART Domains Protein: ENSMUSP00000048460
Gene: ENSMUSG00000036570

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: ENSMUST00000071697
SMART Domains Protein: ENSMUSP00000071617
Gene: ENSMUSG00000036570

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 probably benign
Transcript: ENSMUST00000108110
SMART Domains Protein: ENSMUSP00000103745
Gene: ENSMUSG00000036570

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 probably benign
Transcript: ENSMUST00000205439
Predicted Effect probably benign
Transcript: ENSMUST00000205778
Predicted Effect probably benign
Transcript: ENSMUST00000205807
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000206012
Predicted Effect probably benign
Transcript: ENSMUST00000206305
Predicted Effect probably benign
Transcript: ENSMUST00000206328
Predicted Effect probably benign
Transcript: ENSMUST00000206341
Predicted Effect probably benign
Transcript: ENSMUST00000206474
Predicted Effect probably benign
Transcript: ENSMUST00000206860
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (49/49)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,208,189 (GRCm39) D485G probably damaging Het
Ap4b1 G A 3: 103,728,018 (GRCm39) R344Q probably damaging Het
Apol7c G T 15: 77,410,280 (GRCm39) P222Q possibly damaging Het
Atf6b T C 17: 34,869,796 (GRCm39) L272P probably damaging Het
Atp11b G T 3: 35,864,854 (GRCm39) R559I probably benign Het
Bhmt T A 13: 93,756,600 (GRCm39) I343F probably benign Het
Btbd7 A T 12: 102,754,631 (GRCm39) F712I probably damaging Het
Card14 T C 11: 119,222,070 (GRCm39) L455P probably benign Het
Cast A T 13: 74,946,835 (GRCm39) H26Q probably benign Het
Clcn1 A G 6: 42,284,133 (GRCm39) N567S probably damaging Het
Cnot6l A T 5: 96,225,176 (GRCm39) W506R probably damaging Het
Dynap T A 18: 70,374,044 (GRCm39) I161L unknown Het
Eif4g3 A C 4: 137,893,239 (GRCm39) T996P probably damaging Het
Exoc8 A G 8: 125,623,849 (GRCm39) Y173H probably benign Het
Fbll1 C T 11: 35,688,907 (GRCm39) V119M probably damaging Het
Fbxw22 A T 9: 109,214,068 (GRCm39) F249L probably benign Het
Grhl3 C A 4: 135,276,549 (GRCm39) probably null Het
Grk4 A G 5: 34,902,690 (GRCm39) E414G possibly damaging Het
H2bc8 T A 13: 23,755,880 (GRCm39) S92T probably benign Het
H2-Q5 A G 17: 35,613,820 (GRCm39) D123G Het
H2-Q5 C T 17: 35,613,945 (GRCm39) R165* probably null Het
Hgf A T 5: 16,771,854 (GRCm39) E160D probably damaging Het
Ifi211 T C 1: 173,733,086 (GRCm39) I192V probably benign Het
Klk1b22 T C 7: 43,762,144 (GRCm39) F7L probably benign Het
Lcmt1 C A 7: 123,029,371 (GRCm39) T331N probably benign Het
Lrrc36 A T 8: 106,176,168 (GRCm39) T181S possibly damaging Het
Ltbp3 T A 19: 5,798,712 (GRCm39) S520T probably benign Het
Nacc1 A T 8: 85,403,345 (GRCm39) C177S probably damaging Het
Nedd4l T A 18: 65,342,728 (GRCm39) V888E probably damaging Het
Oc90 C T 15: 65,753,405 (GRCm39) G305S probably damaging Het
Or51a25 A G 7: 102,372,932 (GRCm39) V255A probably damaging Het
Or52i2 T A 7: 102,320,012 (GRCm39) I295N probably damaging Het
Pappa2 T A 1: 158,764,092 (GRCm39) D473V probably damaging Het
Pou2f2 C A 7: 24,799,623 (GRCm39) G117C probably damaging Het
Prkci A G 3: 31,079,366 (GRCm39) H68R probably damaging Het
Pygm A G 19: 6,440,392 (GRCm39) K479E probably damaging Het
Qpct A G 17: 79,384,996 (GRCm39) D212G probably damaging Het
Sh3glb2 A T 2: 30,249,216 (GRCm39) M1K probably null Het
Slc22a5 A G 11: 53,758,469 (GRCm39) S444P probably damaging Het
Snai3 G A 8: 123,183,144 (GRCm39) H134Y probably benign Het
Synpo T C 18: 60,736,044 (GRCm39) D395G probably damaging Het
Tmem63c C T 12: 87,119,738 (GRCm39) T344I probably damaging Het
Tnfsf14 A G 17: 57,497,534 (GRCm39) Y233H Het
Ttn A G 2: 76,749,335 (GRCm39) F3905L probably benign Het
Tubgcp5 T A 7: 55,454,363 (GRCm39) H219Q possibly damaging Het
Usp16 C T 16: 87,271,536 (GRCm39) T364M possibly damaging Het
Vmn1r59 C T 7: 5,457,750 (GRCm39) M3I probably benign Het
Vmn2r61 T A 7: 41,949,700 (GRCm39) C707S probably damaging Het
Vps13b T C 15: 35,841,466 (GRCm39) S2499P probably damaging Het
Ythdf3 A G 3: 16,259,179 (GRCm39) E442G possibly damaging Het
Zfp1001 T C 2: 150,204,907 (GRCm39) S74P probably benign 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
R7184:Fxyd1 UTSW 7 30,751,401 (GRCm39) missense unknown
R7303:Fxyd1 UTSW 7 30,753,743 (GRCm39) missense probably benign
R7729:Fxyd1 UTSW 7 30,752,896 (GRCm39) missense probably damaging 1.00
Z1186:Fxyd1 UTSW 7 30,751,377 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GCTTGAGTTTCCATCTGCGG -3'
(R):5'- AGGCTCAGTCTCCAACCACTTC -3'

Sequencing Primer
(F):5'- GCGCTTAATACATGTTCACTGCAGG -3'
(R):5'- AGTCTCCAACCACTTCTCTTAGG -3'
Posted On 2021-01-18