Mutagenetix > Incidental Mutation

Incidental Mutation 'R5921:Fxyd4'

461576

Institutional Source

Beutler Lab

Gene Symbol

Fxyd4

Ensembl Gene

ENSMUSG00000004988

Gene Name

FXYD domain-containing ion transport regulator 4

Synonyms

0610008I02Rik, Chif

MMRRC Submission

044118-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117910520-117914653 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 117913099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005114] [ENSMUST00000203066] [ENSMUST00000203082] [ENSMUST00000203433] [ENSMUST00000204950] [ENSMUST00000204214]

AlphaFold

Q9D2W0

Predicted Effect

probably benign
Transcript: ENSMUST00000005114

SMART Domains

Protein: ENSMUSP00000005114
Gene: ENSMUSG00000004988

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ATP1G1_PLM_MAT8	25	71	1.4e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175364

Predicted Effect

probably benign
Transcript: ENSMUST00000203066

SMART Domains

Protein: ENSMUSP00000145293
Gene: ENSMUSG00000004988

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ATP1G1_PLM_MAT8	25	71	7.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203082

SMART Domains

Protein: ENSMUSP00000144700
Gene: ENSMUSG00000004988

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ATP1G1_PLM_MAT8	25	71	1.4e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203433

SMART Domains

Protein: ENSMUSP00000144773
Gene: ENSMUSG00000004988

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ATP1G1_PLM_MAT8	25	60	8.1e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205111

Predicted Effect

probably benign
Transcript: ENSMUST00000204950

SMART Domains

Protein: ENSMUSP00000145182
Gene: ENSMUSG00000004988

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ATP1G1_PLM_MAT8	25	60	8.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204214

SMART Domains

Protein: ENSMUSP00000145302
Gene: ENSMUSG00000004988

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ATP1G1_PLM_MAT8	25	71	1.4e-27	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

95% (70/74)

MGI Phenotype

FUNCTION: 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. Mouse FXYD5 has been termed RIC (Related to Ion Channel). 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. 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile but exhibit a significant increase in urine volume (and water intake) under Na⁺ deprivation and K⁺ loading, as well as lethality after a combination of high-K⁺ intake and furosemide injection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 35,969,555 (GRCm39)	V223M	probably damaging	Het
Adamts7	T	C	9: 90,070,747 (GRCm39)	S623P	probably benign	Het
Aqp7	G	T	4: 41,036,093 (GRCm39)	N48K	probably benign	Het
Asic4	A	G	1: 75,428,017 (GRCm39)	N181S	probably benign	Het
Blvra	A	T	2: 126,929,283 (GRCm39)		probably benign	Het
Bmf	C	A	2: 118,363,034 (GRCm39)		probably benign	Het
Bnc2	A	T	4: 84,211,292 (GRCm39)	I454N	possibly damaging	Het
Catsperg1	A	T	7: 28,889,948 (GRCm39)	L700H	possibly damaging	Het
Ccdc14	T	C	16: 34,526,761 (GRCm39)	V222A	probably damaging	Het
Cfap97d2	G	T	8: 13,784,840 (GRCm39)	A34S	probably damaging	Het
Clstn3	A	T	6: 124,408,539 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,300,602 (GRCm39)	I1066F	probably damaging	Het
Dcdc2c	T	C	12: 28,574,774 (GRCm39)	E116G	possibly damaging	Het
Dop1a	G	A	9: 86,383,975 (GRCm39)	S310N	probably damaging	Het
Dync1h1	T	A	12: 110,584,802 (GRCm39)	V735E	probably damaging	Het
Eva1a	T	C	6: 82,069,140 (GRCm39)	Y156H	probably damaging	Het
Fbxw26	A	G	9: 109,575,086 (GRCm39)	I13T	probably damaging	Het
Fermt2	A	T	14: 45,702,203 (GRCm39)	L527Q	probably damaging	Het
Gal	A	G	19: 3,460,100 (GRCm39)	S124P	probably damaging	Het
Glmp	T	C	3: 88,233,283 (GRCm39)	S56P	probably benign	Het
Gm5600	T	C	7: 113,307,413 (GRCm39)		noncoding transcript	Het
Golga2	A	G	2: 32,187,767 (GRCm39)	N194S	probably benign	Het
Gon4l	T	C	3: 88,817,254 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,246,426 (GRCm39)	Y895N	probably damaging	Het
Hsd3b1	C	A	3: 98,765,215 (GRCm39)	M22I	probably benign	Het
Ipo13	A	C	4: 117,769,286 (GRCm39)	L169V	probably benign	Het
Kif13a	G	T	13: 46,978,776 (GRCm39)	T208K	probably damaging	Het
Klhl5	G	T	5: 65,320,299 (GRCm39)	A618S	probably damaging	Het
Lrig2	A	T	3: 104,370,070 (GRCm39)	L496*	probably null	Het
Macf1	A	G	4: 123,420,504 (GRCm39)	I250T	probably benign	Het
Man1a	A	G	10: 53,783,606 (GRCm39)	I632T	probably damaging	Het
Nav2	A	G	7: 48,954,324 (GRCm39)		probably benign	Het
Nek8	A	G	11: 78,063,885 (GRCm39)	M40T	probably damaging	Het
Oas3	T	C	5: 120,908,046 (GRCm39)	D298G	probably damaging	Het
Ociad1	A	G	5: 73,467,725 (GRCm39)	D167G	probably benign	Het
Or14j4	A	T	17: 37,921,110 (GRCm39)	C177*	probably null	Het
Or8s5	T	C	15: 98,238,310 (GRCm39)	T187A	probably benign	Het
Or9s13	T	A	1: 92,548,344 (GRCm39)	S239T	probably benign	Het
Pafah2	G	T	4: 134,145,380 (GRCm39)	V255L	probably benign	Het
Pde10a	A	G	17: 9,149,369 (GRCm39)	Y407C	probably damaging	Het
Pirb	A	C	7: 3,719,693 (GRCm39)	Y484*	probably null	Het
Prl8a6	A	G	13: 27,621,171 (GRCm39)	S20P	probably damaging	Het
R3hdm4	A	T	10: 79,749,453 (GRCm39)	V52E	probably damaging	Het
Rab3ip	A	G	10: 116,775,152 (GRCm39)	Y69H	probably damaging	Het
Rxrg	T	C	1: 167,466,808 (GRCm39)	M330T	possibly damaging	Het
Sema4g	G	T	19: 44,987,143 (GRCm39)	G460V	probably benign	Het
Sidt1	T	C	16: 44,094,098 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,065,595 (GRCm39)	D943E	probably benign	Het
Slc12a4	T	C	8: 106,671,876 (GRCm39)		probably null	Het
Slc4a3	T	G	1: 75,534,088 (GRCm39)		probably null	Het
Slc4a8	C	T	15: 100,712,328 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,158,005 (GRCm39)		probably benign	Het
Stk39	A	G	2: 68,196,449 (GRCm39)	S327P	probably damaging	Het
Tbc1d5	G	A	17: 51,270,721 (GRCm39)	T170M	probably damaging	Het
Trim13	T	A	14: 61,842,538 (GRCm39)	F185Y	probably benign	Het
Ttc17	A	G	2: 94,209,193 (GRCm39)	V87A	probably damaging	Het
Ttn	A	T	2: 76,551,207 (GRCm39)	M31395K	possibly damaging	Het
Usp34	T	A	11: 23,414,686 (GRCm39)	D2876E	probably damaging	Het
Uvssa	T	C	5: 33,547,096 (GRCm39)	S221P	probably benign	Het
Vmn2r93	T	A	17: 18,546,030 (GRCm39)	L634Q	probably damaging	Het
Vmp1	C	T	11: 86,477,336 (GRCm39)	A355T	probably benign	Het
Xpo5	A	T	17: 46,532,347 (GRCm39)	M461L	probably benign	Het
Zfp759	T	A	13: 67,288,558 (GRCm39)	F703Y	probably damaging	Het

Other mutations in Fxyd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2177:Fxyd4	UTSW	6	117,911,393 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2017-02-28