Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01665:Atp1a4'

103275

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp1a4

Ensembl Gene

ENSMUSG00000007107

Gene Name

ATPase, Na+/K+ transporting, alpha 4 polypeptide

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01665

Quality Score

Status

Chromosome

Chromosomal Location

172051080-172085981 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 172074291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 321 (I321V)

Ref Sequence

ENSEMBL: ENSMUSP00000106874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111243]

AlphaFold

Q9WV27

Predicted Effect

probably benign
Transcript: ENSMUST00000111243
AA Change: I321V

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

SMART Domains

Protein: ENSMUSP00000106874
Gene: ENSMUSG00000007107
AA Change: I321V

Domain	Start	End	E-Value	Type
low complexity region	33	50	N/A	INTRINSIC
Cation_ATPase_N	51	125	1.22e-14	SMART
Pfam:E1-E2_ATPase	144	375	2.6e-59	PFAM
Pfam:Hydrolase	380	738	8.1e-19	PFAM
Pfam:HAD	383	735	1.6e-17	PFAM
Pfam:Cation_ATPase	437	531	9.2e-25	PFAM
Pfam:Cation_ATPase_C	808	1017	1.2e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193316

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit infertility associated with asthenozoospermia and teratozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	T	A	9: 54,530,004 (GRCm39)	I231L	probably benign	Het
Adcyap1	T	A	17: 93,507,506 (GRCm39)	V22D	probably damaging	Het
Adgra3	T	C	5: 50,164,272 (GRCm39)	T236A	possibly damaging	Het
Adipor2	A	T	6: 119,338,887 (GRCm39)	L122H	probably benign	Het
Bhmt2	A	T	13: 93,799,661 (GRCm39)	Y258*	probably null	Het
C230029F24Rik	T	A	1: 49,377,253 (GRCm39)		noncoding transcript	Het
Ccpg1	T	A	9: 72,913,159 (GRCm39)	F232I	probably damaging	Het
Cd83	A	T	13: 43,955,153 (GRCm39)	T195S	probably benign	Het
Cdcp3	G	T	7: 130,848,386 (GRCm39)	G847*	probably null	Het
Cfap70	G	A	14: 20,453,186 (GRCm39)	T897M	probably damaging	Het
Cyp3a11	T	A	5: 145,805,475 (GRCm39)	M181L	probably benign	Het
Frem2	C	T	3: 53,457,083 (GRCm39)	V2090I	probably benign	Het
Gm45234	A	G	6: 124,723,571 (GRCm39)		probably benign	Het
Gm7964	T	A	7: 83,406,341 (GRCm39)		noncoding transcript	Het
Igsf9	T	A	1: 172,319,738 (GRCm39)	C39*	probably null	Het
Il1rap	A	T	16: 26,541,463 (GRCm39)	D568V	probably damaging	Het
Ints7	C	T	1: 191,345,331 (GRCm39)		probably benign	Het
Lsamp	C	T	16: 41,964,375 (GRCm39)	R250*	probably null	Het
Oit3	T	A	10: 59,274,731 (GRCm39)	D23V	probably damaging	Het
Pcdh17	T	A	14: 84,684,442 (GRCm39)	L303Q	probably damaging	Het
Pcdhb1	T	A	18: 37,400,450 (GRCm39)	N800K	probably benign	Het
Plce1	A	G	19: 38,513,331 (GRCm39)	D210G	probably benign	Het
Plekhb2	T	A	1: 34,908,411 (GRCm39)	Y152N	probably damaging	Het
Rbp3	T	C	14: 33,678,088 (GRCm39)	S679P	probably benign	Het
Rps6kc1	T	C	1: 190,643,854 (GRCm39)	T2A	possibly damaging	Het
Tmem167	T	A	13: 90,246,504 (GRCm39)	S9R	probably damaging	Het
Xpnpep1	A	T	19: 52,985,463 (GRCm39)	S522T	probably benign	Het

Other mutations in Atp1a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Atp1a4	APN	1	172,067,373 (GRCm39)	missense	probably damaging	1.00
IGL00924:Atp1a4	APN	1	172,074,339 (GRCm39)	missense	probably damaging	1.00
IGL01288:Atp1a4	APN	1	172,085,474 (GRCm39)	missense	possibly damaging	0.77
IGL02156:Atp1a4	APN	1	172,085,529 (GRCm39)	missense	probably benign
IGL02170:Atp1a4	APN	1	172,062,103 (GRCm39)	missense	possibly damaging	0.94
IGL02228:Atp1a4	APN	1	172,082,452 (GRCm39)	missense	possibly damaging	0.69
IGL02505:Atp1a4	APN	1	172,062,642 (GRCm39)	missense	probably damaging	1.00
IGL02653:Atp1a4	APN	1	172,078,973 (GRCm39)	missense	possibly damaging	0.81
IGL02792:Atp1a4	APN	1	172,054,866 (GRCm39)	critical splice donor site	probably null
IGL02794:Atp1a4	APN	1	172,071,653 (GRCm39)	missense	probably benign	0.13
IGL03102:Atp1a4	APN	1	172,058,718 (GRCm39)	missense	probably damaging	1.00
R0046:Atp1a4	UTSW	1	172,067,664 (GRCm39)	missense	probably benign	0.09
R0046:Atp1a4	UTSW	1	172,067,664 (GRCm39)	missense	probably benign	0.09
R0276:Atp1a4	UTSW	1	172,085,468 (GRCm39)	missense	probably damaging	1.00
R0309:Atp1a4	UTSW	1	172,062,554 (GRCm39)	missense	probably damaging	1.00
R0525:Atp1a4	UTSW	1	172,067,255 (GRCm39)	splice site	probably benign
R0615:Atp1a4	UTSW	1	172,059,627 (GRCm39)	splice site	probably benign
R0730:Atp1a4	UTSW	1	172,067,774 (GRCm39)	splice site	probably benign
R1412:Atp1a4	UTSW	1	172,059,576 (GRCm39)	missense	probably damaging	0.97
R1652:Atp1a4	UTSW	1	172,082,470 (GRCm39)	missense	probably damaging	1.00
R1898:Atp1a4	UTSW	1	172,062,615 (GRCm39)	missense	probably damaging	0.99
R1968:Atp1a4	UTSW	1	172,067,731 (GRCm39)	missense	probably benign
R2291:Atp1a4	UTSW	1	172,072,473 (GRCm39)	missense	probably damaging	1.00
R2897:Atp1a4	UTSW	1	172,074,257 (GRCm39)	missense	probably damaging	1.00
R2908:Atp1a4	UTSW	1	172,062,044 (GRCm39)	missense	probably benign
R3119:Atp1a4	UTSW	1	172,067,393 (GRCm39)	missense	probably damaging	0.99
R3731:Atp1a4	UTSW	1	172,061,528 (GRCm39)	missense	probably damaging	1.00
R4447:Atp1a4	UTSW	1	172,061,998 (GRCm39)	missense	probably damaging	0.99
R4602:Atp1a4	UTSW	1	172,067,332 (GRCm39)	missense	probably damaging	1.00
R4670:Atp1a4	UTSW	1	172,062,567 (GRCm39)	missense	probably benign	0.07
R4674:Atp1a4	UTSW	1	172,085,223 (GRCm39)	missense	possibly damaging	0.81
R4675:Atp1a4	UTSW	1	172,085,223 (GRCm39)	missense	possibly damaging	0.81
R4785:Atp1a4	UTSW	1	172,081,677 (GRCm39)	nonsense	probably null
R4958:Atp1a4	UTSW	1	172,058,718 (GRCm39)	missense	probably damaging	1.00
R5015:Atp1a4	UTSW	1	172,081,649 (GRCm39)	missense	probably damaging	1.00
R5149:Atp1a4	UTSW	1	172,059,572 (GRCm39)	missense	probably damaging	1.00
R5234:Atp1a4	UTSW	1	172,054,737 (GRCm39)	missense	possibly damaging	0.73
R5501:Atp1a4	UTSW	1	172,074,399 (GRCm39)	missense	probably damaging	1.00
R5682:Atp1a4	UTSW	1	172,081,730 (GRCm39)	missense	probably damaging	0.99
R5872:Atp1a4	UTSW	1	172,071,975 (GRCm39)	missense	probably damaging	1.00
R5933:Atp1a4	UTSW	1	172,059,841 (GRCm39)	missense	possibly damaging	0.91
R6722:Atp1a4	UTSW	1	172,085,617 (GRCm39)	unclassified	probably benign
R7087:Atp1a4	UTSW	1	172,074,269 (GRCm39)	missense	probably damaging	1.00
R7122:Atp1a4	UTSW	1	172,059,503 (GRCm39)	missense	possibly damaging	0.47
R7381:Atp1a4	UTSW	1	172,067,682 (GRCm39)	missense	possibly damaging	0.70
R7431:Atp1a4	UTSW	1	172,078,474 (GRCm39)	missense	probably benign	0.31
R8269:Atp1a4	UTSW	1	172,059,892 (GRCm39)	missense	probably damaging	1.00
R8400:Atp1a4	UTSW	1	172,062,061 (GRCm39)	missense	probably damaging	1.00
R8559:Atp1a4	UTSW	1	172,078,897 (GRCm39)	missense	probably damaging	1.00
R8680:Atp1a4	UTSW	1	172,078,566 (GRCm39)	missense	probably damaging	1.00
R8777:Atp1a4	UTSW	1	172,059,869 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Atp1a4	UTSW	1	172,059,869 (GRCm39)	missense	probably damaging	1.00
R8867:Atp1a4	UTSW	1	172,072,491 (GRCm39)	missense	probably damaging	0.99
R8869:Atp1a4	UTSW	1	172,054,690 (GRCm39)	missense	probably benign
R9260:Atp1a4	UTSW	1	172,074,359 (GRCm39)	missense	probably damaging	1.00
R9300:Atp1a4	UTSW	1	172,067,398 (GRCm39)	missense	probably damaging	1.00
R9545:Atp1a4	UTSW	1	172,078,464 (GRCm39)	missense	probably benign	0.35
Z1176:Atp1a4	UTSW	1	172,059,521 (GRCm39)	missense	probably benign	0.44

Posted On

2014-01-21