|Institutional Source||Beutler Lab|
|Gene Name||FXYD domain-containing ion transport regulator 6|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6198 (G1)|
|Chromosomal Location||45370185-45396159 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 45390670 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 30 (Y30C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000150813 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000085939] [ENSMUST00000217381]|
|Predicted Effect||possibly damaging
AA Change: Y31C
PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: Y31C
|Predicted Effect||probably damaging
AA Change: Y30C
PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
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., email@example.com., 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||
|Other mutations in Fxyd6||
(F):5'- AGCTAGCCCATCTTCCATGATC -3'
(R):5'- CATCTGTCTAGCAGCCGTAG -3'
(F):5'- ATGATCTCCAGTATCTCTGCCCAG -3'
(R):5'- CACTTACTGAGGATGAGAAGTATCCC -3'