Mutagenetix > Incidental Mutation

Incidental Mutation 'R1812:Fxyd5'

202466

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

039840-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R1812 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

30732153-30741565 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 30737355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009831] [ENSMUST00000073892] [ENSMUST00000159753] [ENSMUST00000159924] [ENSMUST00000159924] [ENSMUST00000160689] [ENSMUST00000162087] [ENSMUST00000162087] [ENSMUST00000161684] [ENSMUST00000161684] [ENSMUST00000161805] [ENSMUST00000161805] [ENSMUST00000162116] [ENSMUST00000162116] [ENSMUST00000162733] [ENSMUST00000202395] [ENSMUST00000202395] [ENSMUST00000206341]

AlphaFold

P97808

Predicted Effect

silent
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: 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

silent
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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000160006

Predicted Effect

silent
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

noncoding transcript
Transcript: ENSMUST00000161259

Predicted Effect

probably null
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

probably null
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

probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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

silent
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 null
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

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184636

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205301

Predicted Effect

probably benign
Transcript: ENSMUST00000206341

Coding Region Coverage

1x: 97.3%
3x: 96.3%
10x: 93.2%
20x: 85.7%

Validation Efficiency

100% (1/1)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,164,740 (GRCm39)	Q545*	probably null	Het
Aadacl2	T	C	3: 59,932,498 (GRCm39)	C338R	probably damaging	Het
Abcb4	G	A	5: 8,978,578 (GRCm39)		probably null	Het
Adam17	T	C	12: 21,411,768 (GRCm39)	D41G	probably damaging	Het
Angptl7	T	A	4: 148,582,540 (GRCm39)	I119F	probably damaging	Het
Arid1b	T	A	17: 5,387,304 (GRCm39)	S1586T	probably benign	Het
Arid4b	C	T	13: 14,370,014 (GRCm39)	A1170V	probably damaging	Het
Atad5	A	G	11: 80,023,873 (GRCm39)	T1659A	probably damaging	Het
Bub1b	T	G	2: 118,462,902 (GRCm39)	D754E	probably benign	Het
Cdkn1a	T	C	17: 29,317,539 (GRCm39)	V53A	probably benign	Het
Chsy1	T	G	7: 65,821,565 (GRCm39)	V600G	probably benign	Het
Cntrl	G	A	2: 35,039,481 (GRCm39)	V561M	probably damaging	Het
Col6a5	A	G	9: 105,805,253 (GRCm39)	C1218R	unknown	Het
Crhr1	T	C	11: 104,059,973 (GRCm39)	L140P	probably damaging	Het
Cyb5b	CAGAG	CAG	8: 107,897,020 (GRCm39)		probably null	Het
Cyp3a59	A	T	5: 146,039,621 (GRCm39)	Q298L	probably damaging	Het
Dctn1	A	G	6: 83,169,500 (GRCm39)	E638G	possibly damaging	Het
Ddx41	A	G	13: 55,683,767 (GRCm39)	I88T	probably benign	Het
Dennd11	A	G	6: 40,386,365 (GRCm39)	I288T	probably benign	Het
Diaph1	G	T	18: 38,024,071 (GRCm39)	P589Q	unknown	Het
Dip2b	C	A	15: 100,096,819 (GRCm39)		probably null	Het
Dscaml1	G	A	9: 45,662,584 (GRCm39)		probably null	Het
Dync1h1	C	T	12: 110,629,334 (GRCm39)	A4246V	possibly damaging	Het
Epb41l1	T	C	2: 156,338,431 (GRCm39)	I158T	probably damaging	Het
Fat1	A	G	8: 45,489,840 (GRCm39)	Y3584C	probably damaging	Het
Gapvd1	T	A	2: 34,615,076 (GRCm39)	K336*	probably null	Het
Gm9637	G	A	14: 19,402,395 (GRCm38)		noncoding transcript	Het
Gpr65	C	T	12: 98,242,001 (GRCm39)	T218M	probably damaging	Het
Gsdma3	T	C	11: 98,523,219 (GRCm39)	V203A	probably damaging	Het
Helb	T	A	10: 119,925,471 (GRCm39)	K969*	probably null	Het
Hipk2	G	A	6: 38,675,098 (GRCm39)	A1188V	probably benign	Het
Itpk1	T	A	12: 102,540,317 (GRCm39)	E255D	probably benign	Het
Kif21a	T	C	15: 90,855,969 (GRCm39)	D596G	possibly damaging	Het
Kif5a	A	T	10: 127,077,879 (GRCm39)	I405N	probably benign	Het
Klk1b11	T	A	7: 43,427,179 (GRCm39)		probably null	Het
Luzp1	T	A	4: 136,269,642 (GRCm39)	L622M	probably benign	Het
Macf1	T	A	4: 123,325,817 (GRCm39)	I5227F	probably damaging	Het
Mapk10	A	C	5: 103,061,128 (GRCm39)	S470A	probably damaging	Het
Morc2a	C	T	11: 3,635,831 (GRCm39)	T897I	probably damaging	Het
Nmbr	A	G	10: 14,636,283 (GRCm39)		probably null	Het
Nosip	T	A	7: 44,725,998 (GRCm39)	M214K	probably damaging	Het
Or13c7d	G	T	4: 43,770,230 (GRCm39)	Y260*	probably null	Het
Or52m2	A	T	7: 102,263,577 (GRCm39)	N206K	possibly damaging	Het
Or52r1	T	C	7: 102,537,285 (GRCm39)	Y25C	probably benign	Het
Or5w13	A	G	2: 87,523,447 (GRCm39)	F260L	probably benign	Het
Pik3c2a	A	T	7: 116,016,899 (GRCm39)	V286E	probably damaging	Het
Ppfia4	T	A	1: 134,252,311 (GRCm39)	I388F	probably benign	Het
Ppm1f	A	G	16: 16,735,651 (GRCm39)	H289R	probably damaging	Het
Ptprz1	T	A	6: 22,959,711 (GRCm39)	D69E	probably benign	Het
Rad54b	A	T	4: 11,612,770 (GRCm39)	T801S	probably damaging	Het
Ramp1	A	T	1: 91,124,579 (GRCm39)	N47Y	probably damaging	Het
Rnf32	T	A	5: 29,411,258 (GRCm39)	H181Q	possibly damaging	Het
Rpa2	T	C	4: 132,495,996 (GRCm39)	F6L	probably benign	Het
Ryr2	C	A	13: 11,575,472 (GRCm39)	R4842L	probably damaging	Het
Scn11a	G	T	9: 119,609,931 (GRCm39)	C972*	probably null	Het
Setd2	C	T	9: 110,379,170 (GRCm39)	T995I	probably damaging	Het
Slc39a7	A	G	17: 34,247,789 (GRCm39)	L471P	probably damaging	Het
Slc6a21	C	G	7: 44,932,371 (GRCm39)	S350R	probably damaging	Het
Slx4ip	A	G	2: 136,910,115 (GRCm39)	N300S	probably benign	Het
Spef2	G	A	15: 9,679,435 (GRCm39)	P634L	probably damaging	Het
Stk32b	G	A	5: 37,624,102 (GRCm39)	A215V	probably damaging	Het
Svil	A	T	18: 5,097,545 (GRCm39)	Y1676F	probably damaging	Het
Tanc1	G	A	2: 59,622,023 (GRCm39)	V381M	probably damaging	Het
Tanc2	T	C	11: 105,777,212 (GRCm39)	F797L	probably benign	Het
Tas2r120	T	G	6: 132,634,564 (GRCm39)	C215W	probably benign	Het
Tenm4	G	A	7: 96,545,147 (GRCm39)	D2388N	probably damaging	Het
Thsd4	C	T	9: 59,964,220 (GRCm39)	S64N	probably damaging	Het
Thsd7b	C	T	1: 129,686,347 (GRCm39)	R630C	probably damaging	Het
Top3a	A	G	11: 60,650,188 (GRCm39)	I145T	probably damaging	Het
Vmn2r78	A	G	7: 86,569,995 (GRCm39)	D171G	probably benign	Het
Vmn2r82	A	G	10: 79,215,046 (GRCm39)	E343G	probably benign	Het
Wdr70	T	C	15: 8,108,663 (GRCm39)	D161G	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
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
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

Predicted Primers

Posted On

2014-06-23