Mutagenetix > Incidental Mutation

Incidental Mutation 'R2362:Fxyd5'

247181

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

040343-MU

Accession Numbers

Essential gene?

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

Stock #

R2362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30732153-30741565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30735896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 104 (N104S)

Ref Sequence

ENSEMBL: ENSMUSP00000144377 (fasta)

Gene Model

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

AlphaFold

P97808

Predicted Effect

probably benign
Transcript: ENSMUST00000009831
AA Change: N117S

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

SMART Domains

Protein: ENSMUSP00000009831
Gene: ENSMUSG00000009687
AA Change: N117S

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
AA Change: N116S

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

SMART Domains

Protein: ENSMUSP00000124219
Gene: ENSMUSG00000009687
AA Change: N116S

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

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

noncoding transcript
Transcript: ENSMUST00000161259

Predicted Effect

probably benign
Transcript: ENSMUST00000161684
AA Change: N116S

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

SMART Domains

Protein: ENSMUSP00000125285
Gene: ENSMUSG00000009687
AA Change: N116S

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: ENSMUST00000162733
AA Change: N117S

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

SMART Domains

Protein: ENSMUSP00000125173
Gene: ENSMUSG00000009687
AA Change: N117S

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: ENSMUST00000162087
AA Change: N116S

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

SMART Domains

Protein: ENSMUSP00000125065
Gene: ENSMUSG00000009687
AA Change: N116S

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 benign
Transcript: ENSMUST00000202395
AA Change: N104S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144377
Gene: ENSMUSG00000009687
AA Change: N104S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	52	67	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161805
AA Change: N116S

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

SMART Domains

Protein: ENSMUSP00000125398
Gene: ENSMUSG00000009687
AA Change: N116S

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: ENSMUST00000162116
AA Change: N116S

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

SMART Domains

Protein: ENSMUSP00000124203
Gene: ENSMUSG00000009687
AA Change: N116S

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

unknown
Transcript: ENSMUST00000162250
AA Change: N54S

SMART Domains

Protein: ENSMUSP00000124129
Gene: ENSMUSG00000009687
AA Change: N54S

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

noncoding transcript
Transcript: ENSMUST00000205301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184636

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (35/35)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	A	T	6: 132,604,442 (GRCm39)	M1K	probably null	Het
Aadat	A	G	8: 60,985,332 (GRCm39)		probably benign	Het
Acsm5	T	C	7: 119,127,649 (GRCm39)		probably benign	Het
Avl9	A	T	6: 56,713,555 (GRCm39)	N271I	probably benign	Het
Ccdc30	T	A	4: 119,181,253 (GRCm39)	N636I	probably damaging	Het
Cdr2	T	G	7: 120,569,554 (GRCm39)	I62L	possibly damaging	Het
Ceacam23	T	G	7: 17,636,398 (GRCm39)		noncoding transcript	Het
Clk3	T	C	9: 57,661,902 (GRCm39)	I382V	possibly damaging	Het
Ctsr	T	A	13: 61,310,610 (GRCm39)	E45V	probably damaging	Het
Cyp2b19	A	G	7: 26,463,802 (GRCm39)	Y318C	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dapk1	A	G	13: 60,878,745 (GRCm39)	N578S	probably damaging	Het
Dlg5	A	T	14: 24,208,755 (GRCm39)	M817K	probably benign	Het
Dtx4	A	G	19: 12,469,899 (GRCm39)	V76A	probably damaging	Het
Eps15	T	C	4: 109,218,427 (GRCm39)	V430A	probably benign	Het
Fhip2b	A	G	14: 70,823,805 (GRCm39)	Y568H	probably benign	Het
Ift122	A	G	6: 115,861,311 (GRCm39)	D193G	probably damaging	Het
Lrrcc1	A	G	3: 14,628,084 (GRCm39)	E542G	probably damaging	Het
Macc1	T	C	12: 119,411,393 (GRCm39)		probably benign	Het
Ndst3	T	A	3: 123,346,327 (GRCm39)	Y234F	possibly damaging	Het
Or5b120	A	T	19: 13,479,872 (GRCm39)	H55L	probably damaging	Het
Pes1	T	C	11: 3,927,123 (GRCm39)	F429S	probably damaging	Het
Polr3e	C	G	7: 120,541,787 (GRCm39)	D623E	probably damaging	Het
Rapgef6	T	C	11: 54,585,098 (GRCm39)	Y1494H	probably damaging	Het
Rbm14	T	C	19: 4,851,735 (GRCm39)		probably benign	Het
Rnf103	A	G	6: 71,487,001 (GRCm39)	D544G	probably benign	Het
Slc10a7	A	G	8: 79,236,261 (GRCm39)	I20V	probably damaging	Het
Sort1	C	T	3: 108,253,981 (GRCm39)	T549I	possibly damaging	Het
Stambpl1	G	A	19: 34,213,754 (GRCm39)	V328I	probably benign	Het
Thbd	A	G	2: 148,248,284 (GRCm39)	L528P	probably damaging	Het
Wbp11	A	T	6: 136,801,330 (GRCm39)	M63K	probably damaging	Het
Wdr11	T	A	7: 129,236,560 (GRCm39)	I1178N	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
R1812:Fxyd5	UTSW	7	30,737,355 (GRCm39)	critical splice acceptor site	probably null
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

PCR Primer
(F):5'- ATGATGACCTGGTTGGCTCC -3'
(R):5'- TTGTTAGCGGAGGTCCAAAAG -3'

Sequencing Primer
(F):5'- TGGCTCCATGGCACTTAGG -3'
(R):5'- CAAAAGAGGGACCCGCCTG -3'

Posted On

2014-10-30