Incidental Mutation 'IGL03344:Fxyd6'
ID417388
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fxyd6
Ensembl Gene ENSMUSG00000066705
Gene NameFXYD domain-containing ion transport regulator 6
Synonyms0610030I18Rik, Php
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03344
Quality Score
Status
Chromosome9
Chromosomal Location45370185-45396159 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 45392250 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 81 (L81R)
Ref Sequence ENSEMBL: ENSMUSP00000083101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085939] [ENSMUST00000217381]
Predicted Effect probably benign
Transcript: ENSMUST00000085939
AA Change: L81R

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000083101
Gene: ENSMUSG00000066705
AA Change: L81R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 24 70 4.1e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217381
AA Change: L80R

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A T 8: 79,248,376 I26N probably damaging Het
2410089E03Rik C A 15: 8,187,458 P720Q possibly damaging Het
AI314180 A C 4: 58,828,538 V965G probably damaging Het
Armc4 C A 18: 7,129,434 G915* probably null Het
Atxn7l1 A G 12: 33,326,066 N47D probably damaging Het
BC003331 T C 1: 150,363,544 E386G probably damaging Het
Cer1 A T 4: 82,884,825 W87R probably damaging Het
Chrna2 A G 14: 66,150,966 K477E probably damaging Het
Chtf8 G A 8: 106,886,272 P12S probably damaging Het
Deaf1 A T 7: 141,297,548 H555Q probably benign Het
Dopey1 T G 9: 86,536,144 I1975M probably damaging Het
Fsd2 C A 7: 81,559,909 V62L probably benign Het
Htt T A 5: 34,879,828 S2086T probably benign Het
Htt T A 5: 34,907,466 S3008T probably benign Het
Mybbp1a G T 11: 72,445,202 R447L probably damaging Het
Nup210 A G 6: 91,021,429 V792A possibly damaging Het
Olfr342 T C 2: 36,528,128 S239P probably damaging Het
Olfr392 T A 11: 73,814,177 I302L probably benign Het
Prokr1 T C 6: 87,588,500 D121G possibly damaging Het
Puf60 A G 15: 76,070,380 V548A possibly damaging Het
Serpina3c T C 12: 104,147,264 I408V probably benign Het
Ska2 A G 11: 87,109,313 probably benign Het
Slc4a9 T A 18: 36,535,601 Y745N probably damaging Het
Speer4f1 A G 5: 17,480,334 E209G possibly damaging Het
Spg20 T C 3: 55,121,685 M299T probably benign Het
Tmem202 T C 9: 59,519,068 T272A possibly damaging Het
Vegfc T A 8: 54,157,151 I114N possibly damaging Het
Vmn1r61 T A 7: 5,610,494 T274S possibly damaging Het
Zfpm2 A G 15: 41,102,774 N753S probably benign Het
Zmym6 A G 4: 127,120,521 T624A probably damaging Het
Other mutations in Fxyd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6198:Fxyd6 UTSW 9 45390670 missense probably damaging 0.96
R6537:Fxyd6 UTSW 9 45390794 missense possibly damaging 0.95
R6841:Fxyd6 UTSW 9 45391553 splice site probably null
Posted On2016-08-02