Mutagenetix > Incidental Mutation

Incidental Mutation 'R4950:Fxyd7'

381916

Institutional Source

Beutler Lab

Gene Symbol

Fxyd7

Ensembl Gene

ENSMUSG00000036578

Gene Name

FXYD domain-containing ion transport regulator 7

Synonyms

1110035I01Rik

MMRRC Submission

042547-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30741940-30750879 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30746815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 15 (T15I)

Ref Sequence

ENSEMBL: ENSMUSP00000146171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039909] [ENSMUST00000071697] [ENSMUST00000073892] [ENSMUST00000108110] [ENSMUST00000161684] [ENSMUST00000205439] [ENSMUST00000206341] [ENSMUST00000205778] [ENSMUST00000206328] [ENSMUST00000206860] [ENSMUST00000205807] [ENSMUST00000206474] [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 benign
Transcript: ENSMUST00000073892
AA Change: T15I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073555
Gene: ENSMUSG00000036578
AA Change: T15I

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 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: ENSMUST00000205439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205542

Predicted Effect

probably benign
Transcript: ENSMUST00000206341
AA Change: T15I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000205778

Predicted Effect

probably benign
Transcript: ENSMUST00000206328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205917

Predicted Effect

probably benign
Transcript: ENSMUST00000206860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206317

Predicted Effect

probably benign
Transcript: ENSMUST00000205807

Predicted Effect

probably benign
Transcript: ENSMUST00000206474

Predicted Effect

probably benign
Transcript: ENSMUST00000206012

Predicted Effect

probably benign
Transcript: ENSMUST00000206030

Predicted Effect

probably benign
Transcript: ENSMUST00000206305

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

100% (58/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bpifb9b	A	T	2: 154,153,579 (GRCm39)	D215V	probably damaging	Het
Cacna1i	A	G	15: 80,252,872 (GRCm39)	E625G	probably damaging	Het
Cage1	C	T	13: 38,207,302 (GRCm39)	S181N	possibly damaging	Het
Ccdc73	A	C	2: 104,822,711 (GRCm39)	I887L	probably benign	Het
Cfap65	T	A	1: 74,945,495 (GRCm39)	K1408*	probably null	Het
Cngb1	C	A	8: 95,975,135 (GRCm39)	G654W	probably damaging	Het
Cxcl15	A	T	5: 90,943,104 (GRCm39)	E35D	possibly damaging	Het
Ddi1	A	G	9: 6,266,073 (GRCm39)	S99P	probably benign	Het
Disp3	A	T	4: 148,342,583 (GRCm39)	D622E	possibly damaging	Het
Dnajc22	G	A	15: 98,999,615 (GRCm39)	V267I	probably benign	Het
Dph5	G	A	3: 115,722,292 (GRCm39)	G257S	probably benign	Het
Elmo2	A	T	2: 165,156,733 (GRCm39)		probably null	Het
Fam186a	T	C	15: 99,839,534 (GRCm39)	R2237G	unknown	Het
Fez1	G	A	9: 36,779,178 (GRCm39)	R285Q	probably damaging	Het
Fsip2	A	T	2: 82,777,276 (GRCm39)	H101L	probably damaging	Het
Fsip2	G	A	2: 82,807,758 (GRCm39)	C1359Y	probably benign	Het
Gpr155	A	T	2: 73,212,529 (GRCm39)	D31E	probably benign	Het
Iho1	A	C	9: 108,298,709 (GRCm39)	S36R	probably damaging	Het
Irx6	A	T	8: 93,405,428 (GRCm39)	Y432F	probably damaging	Het
Itih5	A	C	2: 10,239,892 (GRCm39)	I340L	probably damaging	Het
Lao1	T	C	4: 118,822,572 (GRCm39)	L164S	probably damaging	Het
Mcoln3	T	C	3: 145,845,274 (GRCm39)	I490T	probably damaging	Het
Mef2b	T	C	8: 70,619,846 (GRCm39)	Y311H	probably damaging	Het
Mras	A	T	9: 99,276,537 (GRCm39)	L111Q	probably damaging	Het
Mrc1	A	G	2: 14,276,091 (GRCm39)	D475G	probably damaging	Het
Nrcam	T	C	12: 44,645,273 (GRCm39)	I1155T	probably damaging	Het
Ntrk1	A	G	3: 87,696,918 (GRCm39)		probably null	Het
Or7e165	G	A	9: 19,695,027 (GRCm39)	M199I	probably benign	Het
Or8b38	T	C	9: 37,973,297 (GRCm39)	I227T	probably damaging	Het
Parp9	A	T	16: 35,768,377 (GRCm39)	I186F	probably damaging	Het
Pcdhac2	T	A	18: 37,278,283 (GRCm39)	V421E	probably benign	Het
Pck1	T	A	2: 172,996,620 (GRCm39)	I178K	probably benign	Het
Pde6b	A	G	5: 108,578,569 (GRCm39)	K836E	probably benign	Het
Ptprd	T	A	4: 76,058,752 (GRCm39)		probably null	Het
Pwp2	A	G	10: 78,018,840 (GRCm39)	Y56H	probably benign	Het
Rarb	G	A	14: 16,432,085 (GRCm38)		probably benign	Het
Rpain	C	G	11: 70,861,747 (GRCm39)	H50Q	probably benign	Het
Rps9	CTGTTTG	CTG	7: 3,707,758 (GRCm39)		probably null	Het
Rubcn	A	T	16: 32,663,563 (GRCm39)	S358T	probably damaging	Het
Ryr2	G	A	13: 11,756,897 (GRCm39)	R1586C	probably damaging	Het
Slfn9	T	C	11: 82,872,730 (GRCm39)	I669V	probably benign	Het
Slx1b	T	C	7: 126,290,939 (GRCm39)		probably benign	Het
Spsb3	T	A	17: 25,106,485 (GRCm39)		probably benign	Het
Tbx15	A	G	3: 99,233,700 (GRCm39)	I288V	possibly damaging	Het
Tlr2	C	A	3: 83,744,639 (GRCm39)	E481D	probably damaging	Het
Trim17	A	T	11: 58,861,254 (GRCm39)	D253V	probably damaging	Het
Trim69	A	G	2: 122,009,227 (GRCm39)	D429G	probably damaging	Het
Vstm5	A	G	9: 15,169,090 (GRCm39)		probably null	Het
Vwa3b	A	G	1: 37,124,413 (GRCm39)	Q337R	probably benign	Het
Zfp113	T	C	5: 138,143,734 (GRCm39)	N172S	probably benign	Het
Zfp607a	T	A	7: 27,578,176 (GRCm39)	H415Q	probably damaging	Het
Zfp87	G	A	13: 67,666,018 (GRCm39)	T148I	probably benign	Het

Other mutations in Fxyd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01480:Fxyd7	APN	7	30,746,799 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- GGCTTTATGAGGTTCACAGCC -3'
(R):5'- GAGCATCCTATGAGCTCTACG -3'

Sequencing Primer
(F):5'- ATGAGGTTCACAGCCTTCATCAG -3'
(R):5'- TCTACGGAGAGGCGGTACTGTC -3'

Posted On

2016-04-27