Incidental Mutation 'R4279:Fxyd5'
ID 322799
Institutional Source Beutler Lab
Gene Symbol Fxyd5
Ensembl Gene ENSMUSG00000009687
Gene Name FXYD domain-containing ion transport regulator 5
Synonyms dysadherin, Oit2, EF-8
MMRRC Submission 041079-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R4279 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 30732153-30741565 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 30734811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 139 (D139Y)
Ref Sequence ENSEMBL: ENSMUSP00000125173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009831] [ENSMUST00000159753] [ENSMUST00000159924] [ENSMUST00000160689] [ENSMUST00000161684] [ENSMUST00000162087] [ENSMUST00000161805] [ENSMUST00000162116] [ENSMUST00000162733] [ENSMUST00000202395]
AlphaFold P97808
Predicted Effect probably null
Transcript: ENSMUST00000009831
AA Change: D139Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000009831
Gene: ENSMUSG00000009687
AA Change: D139Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 64 80 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 130 176 8.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159753
SMART Domains Protein: ENSMUSP00000123813
Gene: ENSMUSG00000009687

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 64 80 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000159924
AA Change: D138Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124219
Gene: ENSMUSG00000009687
AA Change: D138Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 64 79 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 129 175 8.5e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160006
Predicted Effect probably benign
Transcript: ENSMUST00000160689
SMART Domains Protein: ENSMUSP00000125187
Gene: ENSMUSG00000009687

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 69 85 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000161684
AA Change: D138Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125285
Gene: ENSMUSG00000009687
AA Change: D138Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 64 79 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 129 175 8.5e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000162087
AA Change: D138Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125065
Gene: ENSMUSG00000009687
AA Change: D138Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 64 79 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 130 174 1.5e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161805
AA Change: D138Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125398
Gene: ENSMUSG00000009687
AA Change: D138Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 64 79 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 129 175 8.5e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000162116
AA Change: D138Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124203
Gene: ENSMUSG00000009687
AA Change: D138Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 64 79 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 129 175 8.5e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000162250
AA Change: D76Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124129
Gene: ENSMUSG00000009687
AA Change: D76Y

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 69 113 7.5e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000162733
AA Change: D139Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125173
Gene: ENSMUSG00000009687
AA Change: D139Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 64 80 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 131 167 6.5e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184636
Predicted Effect probably benign
Transcript: ENSMUST00000202395
SMART Domains Protein: ENSMUSP00000144377
Gene: ENSMUSG00000009687

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 52 67 N/A INTRINSIC
Meta Mutation Damage Score 0.9275 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: This gene encodes a precursor protein that is member of the FXYD family of transmembrane glycoproteins. Like most members of the FXYD family, the encoded protein is a subunit of the sodium-potassium adenosine triphosphatase pump. FXYD family members have tissue-specific expression and differentially regulate the activity of this pump. The protein encoded by this gene also plays a role in cell adhesion and motility. The orthologous human protein inhibits epithelial cadherin, a calcium-dependent adhesion protein and is associated with cancer (promotes metastasis). Alternative splicing of this mouse gene results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 T A 15: 96,269,637 (GRCm39) L1250Q probably damaging Het
Ccdc73 A T 2: 104,815,355 (GRCm39) N364Y possibly damaging Het
Ccl25 T A 8: 4,399,829 (GRCm39) L56Q probably damaging Het
Ctnnd2 C A 15: 30,905,966 (GRCm39) A871E probably damaging Het
Cyp2b23 C T 7: 26,365,452 (GRCm39) S461N possibly damaging Het
Dgat2 C A 7: 98,813,912 (GRCm39) G120V probably damaging Het
Dsp A T 13: 38,369,207 (GRCm39) I768F probably damaging Het
Dzank1 T C 2: 144,333,765 (GRCm39) E356G probably benign Het
Fam120a A T 13: 49,042,734 (GRCm39) V889D probably benign Het
Gcnt2 T C 13: 41,041,666 (GRCm39) V275A probably benign Het
Gimap4 A G 6: 48,667,511 (GRCm39) I89V probably benign Het
Gm6578 G A 6: 12,100,187 (GRCm39) noncoding transcript Het
Jmjd8 A G 17: 26,048,787 (GRCm39) probably benign Het
Jmy G C 13: 93,635,390 (GRCm39) P142R probably damaging Het
Jmy C A 13: 93,635,781 (GRCm39) D12Y probably damaging Het
Kif13b G T 14: 65,016,805 (GRCm39) A1324S probably damaging Het
Klhl31 T C 9: 77,563,121 (GRCm39) S629P unknown Het
Lpar1 A G 4: 58,487,115 (GRCm39) V52A possibly damaging Het
Lrp5 A G 19: 3,641,778 (GRCm39) S1395P possibly damaging Het
Mogs T C 6: 83,093,048 (GRCm39) L132P probably damaging Het
Ncam1 C A 9: 49,418,259 (GRCm39) probably benign Het
Ndufs8 A T 19: 3,961,014 (GRCm39) F88I probably damaging Het
Nos2 T A 11: 78,820,602 (GRCm39) L69Q probably benign Het
Or51a6 T A 7: 102,604,292 (GRCm39) Q179L probably benign Het
Pls3 A T X: 74,846,138 (GRCm39) I192N probably benign Het
Psmd6 T C 14: 14,112,297 (GRCm38) N388S possibly damaging Het
Rrbp1 T C 2: 143,805,028 (GRCm39) T1046A probably benign Het
Scn11a T C 9: 119,583,428 (GRCm39) E1729G probably benign Het
Slc6a3 A G 13: 73,692,953 (GRCm39) D191G possibly damaging Het
Slc9a1 T C 4: 133,139,400 (GRCm39) F206S probably benign Het
Tmc5 A G 7: 118,273,886 (GRCm39) *968W probably null Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Unc13a T C 8: 72,119,311 (GRCm39) K9R probably damaging Het
Vegfa A G 17: 46,342,392 (GRCm39) V142A probably benign Het
Vmn1r119 T A 7: 20,745,786 (GRCm39) M199L probably benign Het
Vnn1 A T 10: 23,774,410 (GRCm39) D151V possibly damaging Het
Zfp365 A T 10: 67,733,431 (GRCm39) F254I probably benign Het
Other mutations in Fxyd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01910:Fxyd5 APN 7 30,734,643 (GRCm39) missense probably damaging 0.96
IGL01913:Fxyd5 APN 7 30,734,637 (GRCm39) missense probably damaging 0.99
IGL02071:Fxyd5 APN 7 30,739,613 (GRCm39) missense possibly damaging 0.46
IGL02800:Fxyd5 APN 7 30,732,404 (GRCm39) missense possibly damaging 0.95
Uptown UTSW 7 30,740,854 (GRCm39) missense probably damaging 1.00
R1812:Fxyd5 UTSW 7 30,737,355 (GRCm39) critical splice acceptor site probably null
R2362:Fxyd5 UTSW 7 30,735,896 (GRCm39) missense probably benign 0.00
R3690:Fxyd5 UTSW 7 30,735,864 (GRCm39) missense possibly damaging 0.95
R4786:Fxyd5 UTSW 7 30,740,907 (GRCm39) unclassified probably benign
R6410:Fxyd5 UTSW 7 30,734,831 (GRCm39) missense probably damaging 1.00
R6465:Fxyd5 UTSW 7 30,737,305 (GRCm39) missense probably damaging 0.96
R7257:Fxyd5 UTSW 7 30,734,576 (GRCm39) missense unknown
R7309:Fxyd5 UTSW 7 30,734,829 (GRCm39) missense probably benign 0.00
R8270:Fxyd5 UTSW 7 30,740,854 (GRCm39) missense probably damaging 1.00
Z1186:Fxyd5 UTSW 7 30,737,356 (GRCm39) missense possibly damaging 0.88
Z1186:Fxyd5 UTSW 7 30,734,588 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ATCCTCAGTCACCATGCAGC -3'
(R):5'- TGTCACATTGAGGACTTCCAC -3'

Sequencing Primer
(F):5'- ATGCCCGACTCTCACTAGTG -3'
(R):5'- GAGGACTTCCACTTCTGTTCTGAG -3'
Posted On 2015-06-20