Incidental Mutation 'IGL02071:Fxyd5'
ID185835
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fxyd5
Ensembl Gene ENSMUSG00000009687
Gene NameFXYD domain-containing ion transport regulator 5
SynonymsEF-8, Oit2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.033) question?
Stock #IGL02071
Quality Score
Status
Chromosome7
Chromosomal Location31032722-31042481 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31040188 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 32 (V32A)
Ref Sequence ENSEMBL: ENSMUSP00000144377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009831] [ENSMUST00000073892] [ENSMUST00000159753] [ENSMUST00000159924] [ENSMUST00000160689] [ENSMUST00000161684] [ENSMUST00000161805] [ENSMUST00000162087] [ENSMUST00000162116] [ENSMUST00000162733] [ENSMUST00000202395] [ENSMUST00000206341]
Predicted Effect probably benign
Transcript: ENSMUST00000009831
AA Change: V44A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000009831
Gene: ENSMUSG00000009687
AA Change: V44A

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: ENSMUST00000073892
SMART Domains Protein: ENSMUSP00000073555
Gene: ENSMUSG00000036578

DomainStartEndE-ValueType
Pfam:ATP1G1_PLM_MAT8 13 60 1.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159753
AA Change: V44A

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123813
Gene: ENSMUSG00000009687
AA Change: V44A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 64 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159924
AA Change: V44A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124219
Gene: ENSMUSG00000009687
AA Change: V44A

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 possibly damaging
Transcript: ENSMUST00000160689
AA Change: V49A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125187
Gene: ENSMUSG00000009687
AA Change: V49A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 69 85 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161259
Predicted Effect probably benign
Transcript: ENSMUST00000161684
AA Change: V44A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125285
Gene: ENSMUSG00000009687
AA Change: V44A

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 benign
Transcript: ENSMUST00000161805
AA Change: V44A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125398
Gene: ENSMUSG00000009687
AA Change: V44A

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 benign
Transcript: ENSMUST00000162087
AA Change: V44A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125065
Gene: ENSMUSG00000009687
AA Change: V44A

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 benign
Transcript: ENSMUST00000162116
AA Change: V44A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124203
Gene: ENSMUSG00000009687
AA Change: V44A

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 benign
Transcript: ENSMUST00000162250
SMART Domains Protein: ENSMUSP00000124129
Gene: ENSMUSG00000009687

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 69 113 7.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162733
AA Change: V44A

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125173
Gene: ENSMUSG00000009687
AA Change: V44A

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: ENSMUST00000184636
Predicted Effect possibly damaging
Transcript: ENSMUST00000202395
AA Change: V32A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144377
Gene: ENSMUSG00000009687
AA Change: V32A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 52 67 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205301
Predicted Effect probably benign
Transcript: ENSMUST00000206341
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,582,812 R92C probably damaging Het
Adam29 C A 8: 55,871,554 V622L possibly damaging Het
Bzw2 T C 12: 36,107,503 H321R probably benign Het
C2cd2 C T 16: 97,870,232 R489Q probably damaging Het
Ccdc129 C A 6: 55,967,725 S477* probably null Het
Cdh23 G A 10: 60,523,560 T253I possibly damaging Het
Col4a3 T G 1: 82,660,887 probably null Het
D630039A03Rik T C 4: 57,910,309 T168A possibly damaging Het
Dnajc19 A G 3: 34,078,765 L97P possibly damaging Het
Dpep2 A T 8: 105,985,144 H550Q probably benign Het
Dvl2 C A 11: 70,004,800 probably null Het
Fam234b A G 6: 135,227,151 probably null Het
Mak16 A T 8: 31,160,529 S251T probably benign Het
Med10 T C 13: 69,815,628 V116A probably benign Het
Mycbp2 G A 14: 103,154,907 R50* probably null Het
Nckap5 G A 1: 125,981,568 P272L probably damaging Het
Nf1 T A 11: 79,444,121 V933E possibly damaging Het
Nrxn2 T A 19: 6,481,753 V749E probably damaging Het
Olfr1042 C A 2: 86,159,875 R165L probably benign Het
Olfr78 A C 7: 102,742,148 V285G probably damaging Het
Osbpl9 T C 4: 109,071,979 Y417C probably damaging Het
Otop1 G A 5: 38,287,983 A162T probably damaging Het
Patl1 C A 19: 11,939,690 P634T probably damaging Het
Ppl A T 16: 5,113,072 S28T probably benign Het
Prkar2b C T 12: 31,963,017 G367R probably damaging Het
Rbl2 G A 8: 91,102,198 V576I probably damaging Het
Rgl3 C T 9: 21,988,263 A53T probably benign Het
Rp1 T A 1: 4,345,310 I1860F possibly damaging Het
Sbno2 A T 10: 80,060,641 D877E probably damaging Het
Sectm1b C T 11: 121,055,935 V45I probably damaging Het
Sfmbt2 G A 2: 10,577,952 V741I probably benign Het
Sugt1 T A 14: 79,610,283 L191* probably null Het
Tcf21 A T 10: 22,817,810 V156E possibly damaging Het
Tep1 T A 14: 50,834,049 R2046S possibly damaging Het
Tmem181a T C 17: 6,297,256 F241S probably damaging Het
Traf6 G A 2: 101,696,793 C296Y probably benign Het
Trim40 A G 17: 36,889,178 S3P probably benign Het
Ttll2 A T 17: 7,351,731 Y266N probably damaging Het
Vps54 A G 11: 21,275,071 N177S probably null Het
Other mutations in Fxyd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01910:Fxyd5 APN 7 31035218 missense probably damaging 0.96
IGL01913:Fxyd5 APN 7 31035212 missense probably damaging 0.99
IGL02800:Fxyd5 APN 7 31032979 missense possibly damaging 0.95
R1812:Fxyd5 UTSW 7 31037930 critical splice acceptor site probably null
R2362:Fxyd5 UTSW 7 31036471 missense probably benign 0.00
R3690:Fxyd5 UTSW 7 31036439 missense possibly damaging 0.95
R4279:Fxyd5 UTSW 7 31035386 missense probably null 1.00
R4786:Fxyd5 UTSW 7 31041482 unclassified probably benign
R6410:Fxyd5 UTSW 7 31035406 missense probably damaging 1.00
R6465:Fxyd5 UTSW 7 31037880 missense probably damaging 0.96
Posted On2014-05-07