Mutagenetix > Incidental Mutation

Incidental Mutation 'R0276:Atp1a4'

35341

Institutional Source

Beutler Lab

Gene Symbol

Atp1a4

Ensembl Gene

ENSMUSG00000007107

Gene Name

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

Synonyms

MMRRC Submission

038498-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172223513-172258414 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 172257901 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 45 (K45M)

Ref Sequence

ENSEMBL: ENSMUSP00000106874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111243] [ENSMUST00000139528]

AlphaFold

Q9WV27

Predicted Effect

probably damaging
Transcript: ENSMUST00000111243
AA Change: K45M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106874
Gene: ENSMUSG00000007107
AA Change: K45M

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

probably benign
Transcript: ENSMUST00000139528

SMART Domains

Protein: ENSMUSP00000134280
Gene: ENSMUSG00000038034

Domain	Start	End	E-Value	Type
IG_like	19	84	3.66e1	SMART
low complexity region	92	103	N/A	INTRINSIC
IG	106	222	2.3e-3	SMART
IG	246	370	9.49e-5	SMART
IG	382	508	3.59e-5	SMART
transmembrane domain	515	537	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193316

Meta Mutation Damage Score

0.3201

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,975,760 (GRCm38)	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,572,591 (GRCm38)	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,462,031 (GRCm38)	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,195,518 (GRCm38)	V136I	probably damaging	Het
Arhgap10	A	T	8: 77,413,581 (GRCm38)	M250K	probably benign	Het
Arhgap33	A	T	7: 30,523,244 (GRCm38)	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,953,472 (GRCm38)		probably benign	Het
Aspm	T	C	1: 139,478,471 (GRCm38)	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,387,694 (GRCm38)	D1014E	probably damaging	Het
Atp8a1	A	T	5: 67,786,673 (GRCm38)		probably benign	Het
Baiap3	A	C	17: 25,243,687 (GRCm38)	F1099C	probably damaging	Het
Bcas3	T	A	11: 85,470,837 (GRCm38)		probably null	Het
Bms1	G	A	6: 118,408,134 (GRCm38)	T371M	possibly damaging	Het
Camta1	C	A	4: 151,075,140 (GRCm38)	R1614L	probably damaging	Het
Capn3	T	C	2: 120,488,065 (GRCm38)		probably benign	Het
Ccdc180	A	G	4: 45,923,534 (GRCm38)	D1105G	probably damaging	Het
Ccdc33	G	T	9: 58,058,392 (GRCm38)	P364Q	probably damaging	Het
Ccdc36	A	T	9: 108,428,440 (GRCm38)	M11K	possibly damaging	Het
Clstn3	A	G	6: 124,431,740 (GRCm38)		probably benign	Het
Cntrl	A	T	2: 35,151,732 (GRCm38)	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,630,741 (GRCm38)	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,419,959 (GRCm38)	H503R	probably benign	Het
Crb1	T	A	1: 139,323,335 (GRCm38)	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 24,858,045 (GRCm38)	T319I	possibly damaging	Het
Dzip1l	G	A	9: 99,660,998 (GRCm38)	R502Q	probably benign	Het
Efcab5	G	A	11: 77,140,923 (GRCm38)	R42W	probably damaging	Het
Efcab5	A	G	11: 77,129,876 (GRCm38)	M673T	probably damaging	Het
F2rl3	A	G	8: 72,762,798 (GRCm38)	T218A	probably benign	Het
Fam135a	C	T	1: 24,067,964 (GRCm38)	R31H	probably damaging	Het
Fam84b	G	T	15: 60,823,674 (GRCm38)	Y74*	probably null	Het
Fcer2a	A	T	8: 3,689,811 (GRCm38)	N53K	possibly damaging	Het
Gm14085	T	A	2: 122,521,928 (GRCm38)	S389T	probably damaging	Het
Golgb1	A	C	16: 36,913,876 (GRCm38)	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,367,575 (GRCm38)		probably benign	Het
Haspin	A	T	11: 73,136,487 (GRCm38)	L592Q	probably damaging	Het
Helq	A	G	5: 100,790,147 (GRCm38)	F478L	probably damaging	Het
Il17rb	T	A	14: 30,004,380 (GRCm38)	T84S	probably damaging	Het
Itga4	T	C	2: 79,321,493 (GRCm38)	L880P	probably damaging	Het
Itih5	A	G	2: 10,185,564 (GRCm38)	I61V	possibly damaging	Het
Ivl	G	A	3: 92,571,514 (GRCm38)	L415F	unknown	Het
Kif2a	A	G	13: 106,976,650 (GRCm38)		probably benign	Het
Kmt2d	T	C	15: 98,850,311 (GRCm38)		probably benign	Het
Lars2	A	G	9: 123,438,121 (GRCm38)		probably benign	Het
Lilrb4a	T	C	10: 51,491,581 (GRCm38)	V73A	probably benign	Het
Lrrc8a	A	G	2: 30,256,788 (GRCm38)	D538G	possibly damaging	Het
Lrrk1	G	A	7: 66,296,263 (GRCm38)		probably benign	Het
Mc2r	A	T	18: 68,408,132 (GRCm38)	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,450,107 (GRCm38)		probably null	Het
Napg	C	T	18: 62,986,963 (GRCm38)	R149C	probably damaging	Het
Ncam2	A	G	16: 81,517,629 (GRCm38)		probably benign	Het
Nlk	T	C	11: 78,571,475 (GRCm38)	I509V	probably benign	Het
Nlrp2	A	T	7: 5,328,109 (GRCm38)	N429K	probably benign	Het
Nlrp9b	A	G	7: 20,028,498 (GRCm38)	T247A	probably benign	Het
Noxo1	A	T	17: 24,700,162 (GRCm38)		probably null	Het
Olfr1212	T	A	2: 88,958,755 (GRCm38)	C96*	probably null	Het
Olfr139	A	G	11: 74,045,118 (GRCm38)	I52T	probably damaging	Het
Olfr353	A	T	2: 36,890,023 (GRCm38)	M275K	probably benign	Het
Olfr701	A	T	7: 106,818,697 (GRCm38)	I205L	probably benign	Het
Olfr734	C	A	14: 50,320,179 (GRCm38)	A219S	probably benign	Het
Oxr1	T	C	15: 41,820,062 (GRCm38)	S294P	probably damaging	Het
Pfpl	A	G	19: 12,429,237 (GRCm38)	Y284C	probably damaging	Het
Pi16	A	T	17: 29,326,943 (GRCm38)	T232S	probably benign	Het
Plcxd2	A	T	16: 46,009,707 (GRCm38)	N50K	probably benign	Het
Plekhn1	T	A	4: 156,228,246 (GRCm38)	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,183,049 (GRCm38)		probably benign	Het
Prrc2b	G	A	2: 32,219,654 (GRCm38)	V1080I	probably damaging	Het
Psg28	A	T	7: 18,430,396 (GRCm38)	N130K	probably benign	Het
Psme4	C	A	11: 30,811,980 (GRCm38)	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,321,596 (GRCm38)	K296E	probably benign	Het
Ptprq	T	C	10: 107,542,735 (GRCm38)		probably null	Het
Rab5b	A	C	10: 128,686,746 (GRCm38)		probably null	Het
Rft1	T	A	14: 30,690,583 (GRCm38)	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Rsu1	A	T	2: 13,170,135 (GRCm38)		probably benign	Het
Senp6	A	G	9: 80,136,747 (GRCm38)	M887V	probably benign	Het
Sgcz	T	A	8: 37,952,919 (GRCm38)	M60L	probably benign	Het
Siglec1	G	A	2: 131,083,941 (GRCm38)	Q282*	probably null	Het
Sipa1l2	T	C	8: 125,421,940 (GRCm38)	T1655A	probably damaging	Het
Slc43a3	G	A	2: 84,937,663 (GRCm38)		probably benign	Het
Snx29	T	C	16: 11,738,373 (GRCm38)	V756A	probably benign	Het
Spta1	T	A	1: 174,217,894 (GRCm38)	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,469 (GRCm38)	S104A	probably damaging	Het
Stk38	C	A	17: 28,992,416 (GRCm38)		probably null	Het
Stx6	T	C	1: 155,174,163 (GRCm38)		probably benign	Het
Thbs4	G	A	13: 92,775,532 (GRCm38)	T230I	probably benign	Het
Thrsp	A	G	7: 97,417,502 (GRCm38)	M1T	probably null	Het
Tmem63b	A	T	17: 45,675,373 (GRCm38)		probably benign	Het
Top2a	A	G	11: 99,009,907 (GRCm38)		probably benign	Het
Tpd52l2	T	C	2: 181,502,059 (GRCm38)		probably null	Het
Trak1	A	G	9: 121,454,338 (GRCm38)	E390G	probably damaging	Het
Trappc3	T	A	4: 126,273,952 (GRCm38)	D101E	possibly damaging	Het
Trhr	A	G	15: 44,197,086 (GRCm38)	M1V	probably null	Het
Triobp	T	A	15: 78,973,676 (GRCm38)	I1159K	probably benign	Het
Unc45a	A	G	7: 80,326,297 (GRCm38)		probably benign	Het
Usb1	A	G	8: 95,333,457 (GRCm38)	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,394,649 (GRCm38)	C113Y	possibly damaging	Het
Vim	A	G	2: 13,574,859 (GRCm38)	K143R	probably benign	Het
Vmn2r75	T	C	7: 86,148,307 (GRCm38)	K766R	probably benign	Het
Wdr92	T	C	11: 17,229,821 (GRCm38)	I274T	probably benign	Het
Xpo5	T	G	17: 46,241,507 (GRCm38)	C1089G	probably damaging	Het

Other mutations in Atp1a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Atp1a4	APN	1	172,239,806 (GRCm38)	missense	probably damaging	1.00
IGL00924:Atp1a4	APN	1	172,246,772 (GRCm38)	missense	probably damaging	1.00
IGL01288:Atp1a4	APN	1	172,257,907 (GRCm38)	missense	possibly damaging	0.77
IGL01665:Atp1a4	APN	1	172,246,724 (GRCm38)	missense	probably benign
IGL02156:Atp1a4	APN	1	172,257,962 (GRCm38)	missense	probably benign
IGL02170:Atp1a4	APN	1	172,234,536 (GRCm38)	missense	possibly damaging	0.94
IGL02228:Atp1a4	APN	1	172,254,885 (GRCm38)	missense	possibly damaging	0.69
IGL02505:Atp1a4	APN	1	172,235,075 (GRCm38)	missense	probably damaging	1.00
IGL02653:Atp1a4	APN	1	172,251,406 (GRCm38)	missense	possibly damaging	0.81
IGL02792:Atp1a4	APN	1	172,227,299 (GRCm38)	critical splice donor site	probably null
IGL02794:Atp1a4	APN	1	172,244,086 (GRCm38)	missense	probably benign	0.13
IGL03102:Atp1a4	APN	1	172,231,151 (GRCm38)	missense	probably damaging	1.00
R0046:Atp1a4	UTSW	1	172,240,097 (GRCm38)	missense	probably benign	0.09
R0046:Atp1a4	UTSW	1	172,240,097 (GRCm38)	missense	probably benign	0.09
R0309:Atp1a4	UTSW	1	172,234,987 (GRCm38)	missense	probably damaging	1.00
R0525:Atp1a4	UTSW	1	172,239,688 (GRCm38)	splice site	probably benign
R0615:Atp1a4	UTSW	1	172,232,060 (GRCm38)	splice site	probably benign
R0730:Atp1a4	UTSW	1	172,240,207 (GRCm38)	splice site	probably benign
R1412:Atp1a4	UTSW	1	172,232,009 (GRCm38)	missense	probably damaging	0.97
R1652:Atp1a4	UTSW	1	172,254,903 (GRCm38)	missense	probably damaging	1.00
R1898:Atp1a4	UTSW	1	172,235,048 (GRCm38)	missense	probably damaging	0.99
R1968:Atp1a4	UTSW	1	172,240,164 (GRCm38)	missense	probably benign
R2291:Atp1a4	UTSW	1	172,244,906 (GRCm38)	missense	probably damaging	1.00
R2897:Atp1a4	UTSW	1	172,246,690 (GRCm38)	missense	probably damaging	1.00
R2908:Atp1a4	UTSW	1	172,234,477 (GRCm38)	missense	probably benign
R3119:Atp1a4	UTSW	1	172,239,826 (GRCm38)	missense	probably damaging	0.99
R3731:Atp1a4	UTSW	1	172,233,961 (GRCm38)	missense	probably damaging	1.00
R4447:Atp1a4	UTSW	1	172,234,431 (GRCm38)	missense	probably damaging	0.99
R4602:Atp1a4	UTSW	1	172,239,765 (GRCm38)	missense	probably damaging	1.00
R4670:Atp1a4	UTSW	1	172,235,000 (GRCm38)	missense	probably benign	0.07
R4674:Atp1a4	UTSW	1	172,257,656 (GRCm38)	missense	possibly damaging	0.81
R4675:Atp1a4	UTSW	1	172,257,656 (GRCm38)	missense	possibly damaging	0.81
R4785:Atp1a4	UTSW	1	172,254,110 (GRCm38)	nonsense	probably null
R4958:Atp1a4	UTSW	1	172,231,151 (GRCm38)	missense	probably damaging	1.00
R5015:Atp1a4	UTSW	1	172,254,082 (GRCm38)	missense	probably damaging	1.00
R5149:Atp1a4	UTSW	1	172,232,005 (GRCm38)	missense	probably damaging	1.00
R5234:Atp1a4	UTSW	1	172,227,170 (GRCm38)	missense	possibly damaging	0.73
R5501:Atp1a4	UTSW	1	172,246,832 (GRCm38)	missense	probably damaging	1.00
R5682:Atp1a4	UTSW	1	172,254,163 (GRCm38)	missense	probably damaging	0.99
R5872:Atp1a4	UTSW	1	172,244,408 (GRCm38)	missense	probably damaging	1.00
R5933:Atp1a4	UTSW	1	172,232,274 (GRCm38)	missense	possibly damaging	0.91
R6722:Atp1a4	UTSW	1	172,258,050 (GRCm38)	unclassified	probably benign
R7087:Atp1a4	UTSW	1	172,246,702 (GRCm38)	missense	probably damaging	1.00
R7122:Atp1a4	UTSW	1	172,231,936 (GRCm38)	missense	possibly damaging	0.47
R7381:Atp1a4	UTSW	1	172,240,115 (GRCm38)	missense	possibly damaging	0.70
R7431:Atp1a4	UTSW	1	172,250,907 (GRCm38)	missense	probably benign	0.31
R8269:Atp1a4	UTSW	1	172,232,325 (GRCm38)	missense	probably damaging	1.00
R8400:Atp1a4	UTSW	1	172,234,494 (GRCm38)	missense	probably damaging	1.00
R8559:Atp1a4	UTSW	1	172,251,330 (GRCm38)	missense	probably damaging	1.00
R8680:Atp1a4	UTSW	1	172,250,999 (GRCm38)	missense	probably damaging	1.00
R8777:Atp1a4	UTSW	1	172,232,302 (GRCm38)	missense	probably damaging	1.00
R8777-TAIL:Atp1a4	UTSW	1	172,232,302 (GRCm38)	missense	probably damaging	1.00
R8867:Atp1a4	UTSW	1	172,244,924 (GRCm38)	missense	probably damaging	0.99
R8869:Atp1a4	UTSW	1	172,227,123 (GRCm38)	missense	probably benign
R9260:Atp1a4	UTSW	1	172,246,792 (GRCm38)	missense	probably damaging	1.00
R9300:Atp1a4	UTSW	1	172,239,831 (GRCm38)	missense	probably damaging	1.00
R9545:Atp1a4	UTSW	1	172,250,897 (GRCm38)	missense	probably benign	0.35
Z1176:Atp1a4	UTSW	1	172,231,954 (GRCm38)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- GGCACTCAGCTCATCCAACGTTAG -3'
(R):5'- TTGAGCAGAGCCAGCTATACCTAGAG -3'

Sequencing Primer
(F):5'- TTATTAAGGTGAGACGGTGACCTC -3'
(R):5'- CCTAGAGATCATATTATGGAGCCTG -3'

Posted On

2013-05-09