Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01480:Fxyd7'

88566

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fxyd7

Ensembl Gene

ENSMUSG00000036578

Gene Name

FXYD domain-containing ion transport regulator 7

Synonyms

1110035I01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01480

Quality Score

Status

Chromosome

Chromosomal Location

30741940-30750879 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 30746799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 20 (Y20*)

Ref Sequence

ENSEMBL: ENSMUSP00000146171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039909] [ENSMUST00000071697] [ENSMUST00000073892] [ENSMUST00000108110] [ENSMUST00000161684] [ENSMUST00000205439] [ENSMUST00000206341] [ENSMUST00000206328] [ENSMUST00000205807] [ENSMUST00000205778] [ENSMUST00000206474] [ENSMUST00000206860] [ENSMUST00000206012] [ENSMUST00000206305]

AlphaFold

P59648

Predicted Effect

probably benign
Transcript: ENSMUST00000039909

SMART Domains

Protein: ENSMUSP00000048460
Gene: ENSMUSG00000036570

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ATP1G1_PLM_MAT8	23	72	1.1e-31	PFAM
low complexity region	81	92	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071697

SMART Domains

Protein: ENSMUSP00000071617
Gene: ENSMUSG00000036570

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ATP1G1_PLM_MAT8	23	72	1.1e-31	PFAM
low complexity region	81	92	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000073892
AA Change: Y20*

SMART Domains

Protein: ENSMUSP00000073555
Gene: ENSMUSG00000036578
AA Change: Y20*

Domain	Start	End	E-Value	Type
Pfam:ATP1G1_PLM_MAT8	13	60	1.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108110

SMART Domains

Protein: ENSMUSP00000103745
Gene: ENSMUSG00000036570

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ATP1G1_PLM_MAT8	24	70	1.4e-31	PFAM
low complexity region	81	92	N/A	INTRINSIC

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 benign
Transcript: ENSMUST00000205439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205542

Predicted Effect

probably null
Transcript: ENSMUST00000206341
AA Change: Y20*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205917

Predicted Effect

probably benign
Transcript: ENSMUST00000206328

Predicted Effect

probably benign
Transcript: ENSMUST00000205807

Predicted Effect

probably benign
Transcript: ENSMUST00000205778

Predicted Effect

probably benign
Transcript: ENSMUST00000206474

Predicted Effect

probably benign
Transcript: ENSMUST00000206860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206317

Predicted Effect

probably benign
Transcript: ENSMUST00000206012

Predicted Effect

probably benign
Transcript: ENSMUST00000206030

Predicted Effect

probably benign
Transcript: ENSMUST00000206305

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Dec 2000]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	T	A	12: 88,423,635 (GRCm39)	C379*	probably null	Het
Ankrd10	A	G	8: 11,685,592 (GRCm39)	V9A	probably benign	Het
Ankrd13a	A	T	5: 114,938,879 (GRCm39)		probably benign	Het
Bbs1	T	C	19: 4,944,421 (GRCm39)	K403E	probably damaging	Het
Ccn3	A	G	15: 54,615,687 (GRCm39)	Y284C	probably damaging	Het
Cd200r2	A	G	16: 44,729,629 (GRCm39)	I95V	probably null	Het
Cyba	T	C	8: 123,151,684 (GRCm39)	E171G	probably benign	Het
Dnah2	T	A	11: 69,349,197 (GRCm39)	M2480L	possibly damaging	Het
Il22ra1	T	C	4: 135,472,112 (GRCm39)	V216A	probably benign	Het
Mapk10	G	A	5: 103,074,018 (GRCm39)		probably benign	Het
Mgat5b	C	A	11: 116,869,278 (GRCm39)	T607K	probably benign	Het
Optn	G	A	2: 5,050,829 (GRCm39)	S184L	probably benign	Het
Or10d5	G	A	9: 39,861,284 (GRCm39)	A261V	probably benign	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Or1p1c	A	T	11: 74,160,427 (GRCm39)	I71L	possibly damaging	Het
Or7a42	T	C	10: 78,791,978 (GRCm39)		probably benign	Het
Plxna1	A	G	6: 89,321,078 (GRCm39)	L462P	possibly damaging	Het
Prkca	C	T	11: 108,083,027 (GRCm39)	V73M	probably damaging	Het
Prkca	A	G	11: 107,877,115 (GRCm39)	F339L	possibly damaging	Het
Ptch2	T	C	4: 116,971,279 (GRCm39)	V1062A	probably damaging	Het
Serpina11	T	A	12: 103,949,110 (GRCm39)	K354*	probably null	Het
Sf1	T	C	19: 6,422,052 (GRCm39)		probably benign	Het
Stam2	A	G	2: 52,606,451 (GRCm39)	S112P	probably benign	Het
Tlr5	G	A	1: 182,801,064 (GRCm39)	E123K	probably benign	Het
Tpp1	T	C	7: 105,398,260 (GRCm39)	E301G	probably damaging	Het
Vmn2r58	T	A	7: 41,514,116 (GRCm39)	I176F	probably benign	Het

Other mutations in Fxyd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02170:Fxyd7	APN	7	30,744,432 (GRCm39)	missense	possibly damaging	0.91
IGL03218:Fxyd7	APN	7	30,743,995 (GRCm39)	critical splice donor site	probably null
R0116:Fxyd7	UTSW	7	30,746,793 (GRCm39)	splice site	probably null
R0847:Fxyd7	UTSW	7	30,744,029 (GRCm39)	missense	probably damaging	0.99
R4299:Fxyd7	UTSW	7	30,744,407 (GRCm39)	missense	probably benign	0.36
R4950:Fxyd7	UTSW	7	30,746,815 (GRCm39)	missense	probably benign

Posted On

2013-11-18