Incidental Mutation 'R6537:Fxyd6'
ID 520484
Institutional Source Beutler Lab
Gene Symbol Fxyd6
Ensembl Gene ENSMUSG00000066705
Gene Name FXYD domain-containing ion transport regulator 6
Synonyms Php, 0610030I18Rik
MMRRC Submission 044663-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6537 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 45281483-45307457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45302092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 37 (I37V)
Ref Sequence ENSEMBL: ENSMUSP00000150813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085939] [ENSMUST00000217381]
AlphaFold Q9D164
Predicted Effect possibly damaging
Transcript: ENSMUST00000085939
AA Change: I38V

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083101
Gene: ENSMUSG00000066705
AA Change: I38V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 24 70 4.1e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000217381
AA Change: I37V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (30/30)
MGI Phenotype FUNCTION: This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. This gene encodes a member of a 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 approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, Fxyd6, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Jul 2006]
PHENOTYPE: Mice homozygous for a null gene trap insertion exhibit impaired learning/memory during trace aversive conditioning when compared with that of their wild-type littermates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc4 T C 5: 53,000,898 (GRCm39) S224P probably damaging Het
Col6a4 G A 9: 105,945,153 (GRCm39) T987M possibly damaging Het
Cort C T 4: 149,211,081 (GRCm39) G8E probably benign Het
Ctdp1 G T 18: 80,492,766 (GRCm39) D576E probably benign Het
Ctsq A T 13: 61,183,140 (GRCm39) I334N probably damaging Het
Cwc15 A G 9: 14,413,284 (GRCm39) D22G probably damaging Het
Dnmt3l G A 10: 77,887,898 (GRCm39) G136R probably null Het
Gm10604 A C 4: 11,980,221 (GRCm39) S28A unknown Het
Gm43302 A G 5: 105,438,861 (GRCm39) I9T possibly damaging Het
Hmcn2 T C 2: 31,305,280 (GRCm39) V3151A probably benign Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Kyat3 A G 3: 142,435,573 (GRCm39) T282A probably benign Het
Lrp6 T C 6: 134,457,458 (GRCm39) E782G probably benign Het
Lrrc3b T C 14: 15,357,946 (GRCm38) Y220C probably damaging Het
Macf1 C T 4: 123,386,518 (GRCm39) S1033N probably damaging Het
Mdm1 A G 10: 117,994,481 (GRCm39) T452A probably benign Het
Nrn1l G T 8: 106,621,350 (GRCm39) R99L probably damaging Het
Pappa T A 4: 65,215,519 (GRCm39) I1142N probably damaging Het
Pcsk1 T C 13: 75,280,358 (GRCm39) F728L probably damaging Het
Ptcd3 T C 6: 71,874,094 (GRCm39) probably null Het
Siglecf C T 7: 43,005,423 (GRCm39) T461I probably benign Het
Slc7a8 C T 14: 54,972,576 (GRCm39) A282T probably benign Het
Srcap T C 7: 127,141,392 (GRCm39) V1724A probably damaging Het
Tafa2 T A 10: 123,429,401 (GRCm39) M5K possibly damaging Het
Tek A G 4: 94,725,561 (GRCm39) Q609R probably benign Het
Trim45 C T 3: 100,832,712 (GRCm39) A315V probably benign Het
Ttbk1 C T 17: 46,781,236 (GRCm39) V446M probably damaging Het
Wrap53 T C 11: 69,454,694 (GRCm39) D225G possibly damaging Het
Znhit6 A G 3: 145,300,374 (GRCm39) I193V probably benign Het
Other mutations in Fxyd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03344:Fxyd6 APN 9 45,303,548 (GRCm39) missense probably benign 0.08
R6198:Fxyd6 UTSW 9 45,301,968 (GRCm39) missense probably damaging 0.96
R6841:Fxyd6 UTSW 9 45,302,851 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ACATCTTTCCCAGCAGCTGAG -3'
(R):5'- CCTATGGATGCAGTCTGTGG -3'

Sequencing Primer
(F):5'- TTTCCCAGCAGCTGAGAAGGAG -3'
(R):5'- AGCCCTGTATTGATCCTGGAGATAC -3'
Posted On 2018-06-06