Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01913:Fxyd5'

179855

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fxyd5

Ensembl Gene

ENSMUSG00000009687

Gene Name

FXYD domain-containing ion transport regulator 5

Synonyms

dysadherin, Oit2, EF-8

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01913

Quality Score

Status

Chromosome

Chromosomal Location

30732153-30741565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30734637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 163 (T163A)

Ref Sequence

ENSEMBL: ENSMUSP00000125173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009831] [ENSMUST00000159753] [ENSMUST00000159924] [ENSMUST00000160689] [ENSMUST00000161684] [ENSMUST00000161805] [ENSMUST00000162733] [ENSMUST00000162116] [ENSMUST00000162087] [ENSMUST00000202395]

AlphaFold

P97808

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009831
AA Change: T163A

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000009831
Gene: ENSMUSG00000009687
AA Change: T163A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	64	80	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159924
AA Change: T162A

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124219
Gene: ENSMUSG00000009687
AA Change: T162A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	69	85	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161684
AA Change: T162A

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125285
Gene: ENSMUSG00000009687
AA Change: T162A

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000161805
AA Change: T162A

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125398
Gene: ENSMUSG00000009687
AA Change: T162A

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000162733
AA Change: T163A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125173
Gene: ENSMUSG00000009687
AA Change: T163A

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000162116
AA Change: T162A

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124203
Gene: ENSMUSG00000009687
AA Change: T162A

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000162087
AA Change: T162A

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125065
Gene: ENSMUSG00000009687
AA Change: T162A

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000162250
AA Change: T100A

SMART Domains

Protein: ENSMUSP00000124129
Gene: ENSMUSG00000009687
AA Change: T100A

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
Pfam:ATP1G1_PLM_MAT8	69	113	7.5e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205301

Predicted Effect

probably benign
Transcript: ENSMUST00000202395

SMART Domains

Protein: ENSMUSP00000144377
Gene: ENSMUSG00000009687

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	52	67	N/A	INTRINSIC

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,789,625 (GRCm39)	E456G	probably damaging	Het
Ahnak	A	T	19: 8,983,428 (GRCm39)	K1571*	probably null	Het
Arhgef2	G	A	3: 88,539,226 (GRCm39)	V58M	probably damaging	Het
Ash2l	A	G	8: 26,309,652 (GRCm39)		probably null	Het
C3	T	C	17: 57,520,767 (GRCm39)	N1163S	probably null	Het
Cbfa2t2	A	G	2: 154,359,693 (GRCm39)	T253A	probably damaging	Het
Dnah5	T	C	15: 28,313,899 (GRCm39)	V1905A	possibly damaging	Het
Dsg1a	C	T	18: 20,455,293 (GRCm39)	R86C	probably damaging	Het
Fastkd1	A	T	2: 69,538,845 (GRCm39)		probably benign	Het
Fat3	T	C	9: 15,910,086 (GRCm39)	D1972G	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
H6pd	A	T	4: 150,078,920 (GRCm39)		probably benign	Het
Klhdc2	T	G	12: 69,349,132 (GRCm39)	S90A	probably benign	Het
Lcn2	A	G	2: 32,277,157 (GRCm39)	V139A	possibly damaging	Het
Nup205	A	G	6: 35,204,365 (GRCm39)	E1417G	probably benign	Het
Or4a77	T	G	2: 89,487,684 (GRCm39)	I34L	probably benign	Het
Or5ac25	A	T	16: 59,182,294 (GRCm39)	C96S	probably damaging	Het
Or5t17	A	T	2: 86,833,164 (GRCm39)	M284L	possibly damaging	Het
Pcdh18	C	A	3: 49,709,698 (GRCm39)	S539I	possibly damaging	Het
Stat1	T	C	1: 52,165,716 (GRCm39)	I104T	probably benign	Het
Tmem151a	G	A	19: 5,131,920 (GRCm39)	R429C	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wdpcp	A	G	11: 21,698,931 (GRCm39)	D570G	probably damaging	Het
Zbtb47	T	C	9: 121,593,035 (GRCm39)	C452R	probably damaging	Het
Zfp429	T	C	13: 67,544,793 (GRCm39)	Y27C	probably damaging	Het
Zfp462	T	C	4: 55,012,138 (GRCm39)	V1368A	probably benign	Het

Other mutations in Fxyd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01910:Fxyd5	APN	7	30,734,643 (GRCm39)	missense	probably damaging	0.96
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
R4279:Fxyd5	UTSW	7	30,734,811 (GRCm39)	missense	probably null	1.00
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

Posted On

2014-05-07