Mutagenetix > Incidental Mutation

Incidental Mutation 'R7257:Fxyd5'

564335

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

045318-MU

Accession Numbers

Essential gene?

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

Stock #

R7257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30732153-30741565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30734576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 183 (H183L)

Ref Sequence

ENSEMBL: ENSMUSP00000125173 (fasta)

Gene Model

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

AlphaFold

P97808

Predicted Effect

probably benign
Transcript: ENSMUST00000009831

SMART Domains

Protein: ENSMUSP00000009831
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	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

probably benign
Transcript: ENSMUST00000159924

SMART Domains

Protein: ENSMUSP00000124219
Gene: ENSMUSG00000009687

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: 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

probably benign
Transcript: ENSMUST00000161684

SMART Domains

Protein: ENSMUSP00000125285
Gene: ENSMUSG00000009687

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: ENSMUST00000161805

SMART Domains

Protein: ENSMUSP00000125398
Gene: ENSMUSG00000009687

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

SMART Domains

Protein: ENSMUSP00000125065
Gene: ENSMUSG00000009687

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: ENSMUST00000162733
AA Change: H183L

SMART Domains

Protein: ENSMUSP00000125173
Gene: ENSMUSG00000009687
AA Change: H183L

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: ENSMUST00000162116

SMART Domains

Protein: ENSMUSP00000124203
Gene: ENSMUSG00000009687

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: 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

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	T	6: 88,816,434 (GRCm39)	V120E	probably benign	Het
Acot11	G	A	4: 106,615,599 (GRCm39)	T284M	probably damaging	Het
Adk	G	T	14: 21,102,739 (GRCm39)	K11N	probably damaging	Het
Akr1c14	T	A	13: 4,138,966 (GRCm39)	N316K	probably benign	Het
AL732309.1	A	T	2: 25,135,851 (GRCm39)	V121D	probably benign	Het
Amh	C	A	10: 80,642,487 (GRCm39)	Q257K	probably benign	Het
Antxrl	T	G	14: 33,787,806 (GRCm39)	H276Q	probably benign	Het
Atp5po	G	A	16: 91,723,755 (GRCm39)	T105M	probably damaging	Het
Atxn2	T	G	5: 121,923,880 (GRCm39)	N734K	possibly damaging	Het
B3gat3	T	A	19: 8,903,102 (GRCm39)	V153D	probably benign	Het
Brd2	A	G	17: 34,332,796 (GRCm39)	V528A	probably damaging	Het
Camk2g	T	C	14: 20,797,907 (GRCm39)	S335G	probably benign	Het
Cbln2	T	A	18: 86,734,859 (GRCm39)	W211R	probably damaging	Het
Cry2	A	T	2: 92,243,326 (GRCm39)	I505N	possibly damaging	Het
Ddx55	T	A	5: 124,698,784 (GRCm39)	C249S	possibly damaging	Het
Dglucy	A	G	12: 100,808,997 (GRCm39)	T232A	probably damaging	Het
Dhx32	A	G	7: 133,361,206 (GRCm39)	Y76H	probably benign	Het
Dmac2l	T	C	12: 69,788,443 (GRCm39)	I114T	probably damaging	Het
Dock7	T	A	4: 98,861,649 (GRCm39)	N1356I	unknown	Het
Dock8	T	A	19: 25,104,449 (GRCm39)	N710K	probably benign	Het
Dync1i2	T	A	2: 71,079,700 (GRCm39)	N391K	possibly damaging	Het
Ect2	A	G	3: 27,192,684 (GRCm39)	S420P	probably damaging	Het
Efcab5	T	A	11: 77,028,605 (GRCm39)	E242V	probably damaging	Het
Fam83g	T	A	11: 61,575,579 (GRCm39)	Y74N	probably damaging	Het
Fbxo34	T	A	14: 47,738,329 (GRCm39)		probably null	Het
Flt4	A	G	11: 49,516,836 (GRCm39)	T208A	probably benign	Het
Gpr150	T	G	13: 76,204,585 (GRCm39)	D120A	probably benign	Het
Grm7	A	G	6: 110,623,079 (GRCm39)	Y84C	probably damaging	Het
Ighmbp2	A	G	19: 3,316,405 (GRCm39)	S562P	probably damaging	Het
Itga7	A	G	10: 128,780,282 (GRCm39)	Y530C	possibly damaging	Het
Itpr3	T	A	17: 27,337,535 (GRCm39)	D2448E	probably benign	Het
Mmp17	C	A	5: 129,672,697 (GRCm39)	H216Q	probably benign	Het
Mns1	C	T	9: 72,360,097 (GRCm39)	R416W	probably damaging	Het
Mog	A	G	17: 37,334,019 (GRCm39)	S25P	unknown	Het
Myh2	A	G	11: 67,071,976 (GRCm39)	K568R	possibly damaging	Het
Myh7	A	T	14: 55,209,947 (GRCm39)		probably null	Het
Mymk	A	T	2: 26,957,380 (GRCm39)	W79R	probably damaging	Het
Ncoa4	T	G	14: 31,899,326 (GRCm39)	L623R	probably damaging	Het
Oca2	G	A	7: 55,929,286 (GRCm39)		probably benign	Het
Odam	A	C	5: 88,035,404 (GRCm39)	S123R	probably benign	Het
Or14c39	T	A	7: 86,344,012 (GRCm39)	M116K	probably damaging	Het
Or2w1	A	G	13: 21,317,427 (GRCm39)	T161A	probably benign	Het
Or51f1d	T	C	7: 102,700,837 (GRCm39)	F111L	probably benign	Het
Or5d16	A	G	2: 87,773,915 (GRCm39)	F19S	probably damaging	Het
Or6c69	T	A	10: 129,748,156 (GRCm39)		probably benign	Het
Or6c8b	C	T	10: 128,882,324 (GRCm39)	V203M	probably benign	Het
Ovch2	C	T	7: 107,393,640 (GRCm39)	C162Y	probably damaging	Het
Padi1	C	A	4: 140,556,782 (GRCm39)	G142C	probably damaging	Het
Pcdhga4	A	G	18: 37,820,451 (GRCm39)	I667V	probably damaging	Het
Pfas	A	T	11: 68,883,785 (GRCm39)	V624E	probably damaging	Het
Phb1	A	T	11: 95,568,917 (GRCm39)	E184V	probably damaging	Het
Phlpp2	G	T	8: 110,666,820 (GRCm39)	M1116I	probably benign	Het
Pip5kl1	T	C	2: 32,470,443 (GRCm39)		probably null	Het
Pitpnm2	T	A	5: 124,263,419 (GRCm39)	I824F	possibly damaging	Het
Pla2g4c	G	A	7: 13,059,669 (GRCm39)	S2N	possibly damaging	Het
Pla2r1	A	T	2: 60,257,969 (GRCm39)		probably null	Het
Pole2	T	C	12: 69,249,684 (GRCm39)	D521G	probably damaging	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rapgef2	A	T	3: 78,989,934 (GRCm39)	L931Q	probably damaging	Het
Rassf3	G	A	10: 121,248,924 (GRCm39)	Q206*	probably null	Het
Rnf123	T	A	9: 107,946,228 (GRCm39)	T316S	probably damaging	Het
Rnf138	T	A	18: 21,141,750 (GRCm39)		probably null	Het
Septin3	G	A	15: 82,173,414 (GRCm39)	A249T	probably damaging	Het
Slc35a4	A	T	18: 36,812,669 (GRCm39)	D3V	unknown	Het
Sltm	T	A	9: 70,451,247 (GRCm39)		probably null	Het
Smarca2	C	T	19: 26,631,864 (GRCm39)	Q560*	probably null	Het
Tcl1b1	A	T	12: 105,130,790 (GRCm39)	D91V	probably damaging	Het
Tirap	A	T	9: 35,100,330 (GRCm39)	V118E	probably damaging	Het
Tlr5	T	A	1: 182,801,798 (GRCm39)	Y367*	probably null	Het
Tmcc1	A	G	6: 116,084,299 (GRCm39)	F5L	probably benign	Het
Tnxb	A	G	17: 34,935,475 (GRCm39)	M2592V	probably benign	Het
Trim66	T	A	7: 109,059,451 (GRCm39)	E931V	probably damaging	Het
Ttn	A	G	2: 76,571,438 (GRCm39)	I26485T	probably damaging	Het
Veph1	C	A	3: 66,065,703 (GRCm39)	V455L	probably benign	Het
Vmn1r125	A	T	7: 21,006,750 (GRCm39)	H216L	probably damaging	Het
Wdr17	T	A	8: 55,085,522 (GRCm39)	E1200D	probably benign	Het
Zbtb37	T	A	1: 160,860,231 (GRCm39)	N25Y	probably damaging	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
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
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'- AAGAGACGTGCACTCTAGGAAC -3'
(R):5'- ACTACGGTAAGTTACCCCGC -3'

Sequencing Primer
(F):5'- TGCACTCTAGGAACAGCGC -3'
(R):5'- CGCACCGCTGGAGATAAGTG -3'

Posted On

2019-06-26