Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02800:Fxyd5'

360148

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: 0.052) question?

Stock #

IGL02800

Quality Score

Status

Chromosome

Chromosomal Location

30732153-30741565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30732404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 176 (R176H)

Ref Sequence

ENSEMBL: ENSMUSP00000124203 (fasta)

Gene Model

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

AlphaFold

P97808

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009831
AA Change: R177H

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000009831
Gene: ENSMUSG00000009687
AA Change: R177H

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: R176H

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124219
Gene: ENSMUSG00000009687
AA Change: R176H

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: R176H

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125285
Gene: ENSMUSG00000009687
AA Change: R176H

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: R176H

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125398
Gene: ENSMUSG00000009687
AA Change: R176H

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: ENSMUST00000162116
AA Change: R176H

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124203
Gene: ENSMUSG00000009687
AA Change: R176H

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: R176H

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125065
Gene: ENSMUSG00000009687
AA Change: R176H

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: R114H

SMART Domains

Protein: ENSMUSP00000124129
Gene: ENSMUSG00000009687
AA Change: R114H

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: ENSMUST00000162733

SMART Domains

Protein: ENSMUSP00000125173
Gene: ENSMUSG00000009687

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,296,349 (GRCm39)	I1045T	probably damaging	Het
Ankrd22	T	C	19: 34,143,181 (GRCm39)		probably benign	Het
Bahcc1	A	G	11: 120,163,760 (GRCm39)	D686G	probably damaging	Het
Carns1	A	G	19: 4,216,569 (GRCm39)		probably benign	Het
Cc2d1b	C	T	4: 108,483,333 (GRCm39)	L306F	probably benign	Het
Ccdc153	A	G	9: 44,157,129 (GRCm39)	E135G	probably damaging	Het
Ccne1	T	C	7: 37,802,224 (GRCm39)	D148G	probably damaging	Het
Cfap57	A	T	4: 118,471,947 (GRCm39)	M144K	probably damaging	Het
Chd6	A	G	2: 160,826,552 (GRCm39)	V1049A	probably damaging	Het
Cpne9	A	G	6: 113,279,034 (GRCm39)	D476G	probably benign	Het
Dna2	T	C	10: 62,797,504 (GRCm39)		probably null	Het
Eif4h	T	C	5: 134,656,459 (GRCm39)	D77G	probably benign	Het
Fhl2	C	T	1: 43,167,562 (GRCm39)	R177Q	probably benign	Het
G6pd2	A	G	5: 61,966,735 (GRCm39)	E170G	probably damaging	Het
Haus3	A	G	5: 34,323,668 (GRCm39)	I314T	possibly damaging	Het
Igkv4-54	A	G	6: 69,608,862 (GRCm39)	V41A	probably damaging	Het
Kidins220	T	A	12: 25,053,092 (GRCm39)	C461S	probably damaging	Het
Lsr	T	C	7: 30,657,838 (GRCm39)	D442G	probably damaging	Het
Mecom	T	C	3: 30,015,183 (GRCm39)	I847V	probably damaging	Het
Mia2	C	T	12: 59,235,277 (GRCm39)	R1326*	probably null	Het
Myo15a	C	A	11: 60,393,195 (GRCm39)	H2240N	probably damaging	Het
Or1e17	A	G	11: 73,831,942 (GRCm39)	Y290C	probably damaging	Het
Or4f62	A	T	2: 111,986,589 (GRCm39)	I98F	possibly damaging	Het
Osgep	T	A	14: 51,153,314 (GRCm39)		probably benign	Het
Pcnt	G	A	10: 76,248,417 (GRCm39)	Q901*	probably null	Het
Pgm3	T	C	9: 86,437,431 (GRCm39)	E481G	possibly damaging	Het
Plch1	T	A	3: 63,605,899 (GRCm39)	D1326V	probably benign	Het
Rabgap1l	T	C	1: 160,299,623 (GRCm39)	D590G	possibly damaging	Het
Rapsn	A	G	2: 90,873,584 (GRCm39)	M244V	probably benign	Het
Rcbtb2	T	A	14: 73,405,543 (GRCm39)	Y299*	probably null	Het
Slc8a1	A	T	17: 81,715,752 (GRCm39)	D760E	probably benign	Het
Smim23	C	A	11: 32,774,424 (GRCm39)		probably null	Het
Sva	A	G	6: 42,017,069 (GRCm39)	T59A	unknown	Het
Tacc2	T	A	7: 130,225,809 (GRCm39)	D831E	probably benign	Het
Tasor2	T	C	13: 3,635,154 (GRCm39)	N551S	probably benign	Het
Tg	G	T	15: 66,629,735 (GRCm39)	W472L	probably damaging	Het
Tmem231	A	G	8: 112,640,664 (GRCm39)	V283A	probably benign	Het
Traf4	A	T	11: 78,051,061 (GRCm39)	I365N	possibly damaging	Het
Usf3	G	A	16: 44,039,459 (GRCm39)	S1313N	probably benign	Het
Vangl1	G	A	3: 102,070,611 (GRCm39)		probably benign	Het
Wdr70	T	C	15: 8,111,980 (GRCm39)	S88G	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
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
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

2015-12-18