Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02071:Fxyd5'

185835

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 #

IGL02071

Quality Score

Status

Chromosome

Chromosomal Location

30732153-30741565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30739613 bp (GRCm39)

Zygosity

Heterozygous

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] [ENSMUST00000162733] [ENSMUST00000202395] [ENSMUST00000161684] [ENSMUST00000162087] [ENSMUST00000161805] [ENSMUST00000162116] [ENSMUST00000206341]

AlphaFold

P97808

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

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: ENSMUST00000073892

SMART Domains

Protein: ENSMUSP00000073555
Gene: ENSMUSG00000036578

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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

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

Domain	Start	End	E-Value	Type
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: ENSMUST00000162733
AA Change: V44A

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125173
Gene: ENSMUSG00000009687
AA Change: V44A

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: ENSMUST00000202395
AA Change: V32A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144377
Gene: ENSMUSG00000009687
AA Change: V32A

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

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

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 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

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

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

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 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

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 benign
Transcript: ENSMUST00000206341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184636

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205301

Predicted Effect

probably benign
Transcript: ENSMUST00000162250

SMART Domains

Protein: ENSMUSP00000124129
Gene: ENSMUSG00000009687

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,400,676 (GRCm39)	R92C	probably damaging	Het
Adam29	C	A	8: 56,324,589 (GRCm39)	V622L	possibly damaging	Het
Bzw2	T	C	12: 36,157,502 (GRCm39)	H321R	probably benign	Het
C2cd2	C	T	16: 97,671,432 (GRCm39)	R489Q	probably damaging	Het
Cdh23	G	A	10: 60,359,339 (GRCm39)	T253I	possibly damaging	Het
Col4a3	T	G	1: 82,638,608 (GRCm39)		probably null	Het
D630039A03Rik	T	C	4: 57,910,309 (GRCm39)	T168A	possibly damaging	Het
Dnajc19	A	G	3: 34,132,914 (GRCm39)	L97P	possibly damaging	Het
Dpep2	A	T	8: 106,711,776 (GRCm39)	H550Q	probably benign	Het
Dvl2	C	A	11: 69,895,626 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,204,149 (GRCm39)		probably null	Het
Itprid1	C	A	6: 55,944,710 (GRCm39)	S477*	probably null	Het
Mak16	A	T	8: 31,650,557 (GRCm39)	S251T	probably benign	Het
Med10	T	C	13: 69,963,747 (GRCm39)	V116A	probably benign	Het
Mycbp2	G	A	14: 103,392,343 (GRCm39)	R50*	probably null	Het
Nckap5	G	A	1: 125,909,305 (GRCm39)	P272L	probably damaging	Het
Nf1	T	A	11: 79,334,947 (GRCm39)	V933E	possibly damaging	Het
Nrxn2	T	A	19: 6,531,783 (GRCm39)	V749E	probably damaging	Het
Or51e2	A	C	7: 102,391,355 (GRCm39)	V285G	probably damaging	Het
Or5al1	C	A	2: 85,990,219 (GRCm39)	R165L	probably benign	Het
Osbpl9	T	C	4: 108,929,176 (GRCm39)	Y417C	probably damaging	Het
Otop1	G	A	5: 38,445,327 (GRCm39)	A162T	probably damaging	Het
Patl1	C	A	19: 11,917,054 (GRCm39)	P634T	probably damaging	Het
Ppl	A	T	16: 4,930,936 (GRCm39)	S28T	probably benign	Het
Prkar2b	C	T	12: 32,013,016 (GRCm39)	G367R	probably damaging	Het
Rbl2	G	A	8: 91,828,826 (GRCm39)	V576I	probably damaging	Het
Rgl3	C	T	9: 21,899,559 (GRCm39)	A53T	probably benign	Het
Rp1	T	A	1: 4,415,533 (GRCm39)	I1860F	possibly damaging	Het
Sbno2	A	T	10: 79,896,475 (GRCm39)	D877E	probably damaging	Het
Sectm1b	C	T	11: 120,946,761 (GRCm39)	V45I	probably damaging	Het
Sfmbt2	G	A	2: 10,582,763 (GRCm39)	V741I	probably benign	Het
Sugt1	T	A	14: 79,847,723 (GRCm39)	L191*	probably null	Het
Tcf21	A	T	10: 22,693,709 (GRCm39)	V156E	possibly damaging	Het
Tep1	T	A	14: 51,071,506 (GRCm39)	R2046S	possibly damaging	Het
Tmem181a	T	C	17: 6,347,531 (GRCm39)	F241S	probably damaging	Het
Traf6	G	A	2: 101,527,138 (GRCm39)	C296Y	probably benign	Het
Trim40	A	G	17: 37,200,070 (GRCm39)	S3P	probably benign	Het
Ttll2	A	T	17: 7,619,130 (GRCm39)	Y266N	probably damaging	Het
Vps54	A	G	11: 21,225,071 (GRCm39)	N177S	probably null	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
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