Mutagenetix > Incidental Mutation

Incidental Mutation 'R5933:Atp1a4'

461974

Institutional Source

Beutler Lab

Gene Symbol

Atp1a4

Ensembl Gene

ENSMUSG00000007107

Gene Name

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

Synonyms

MMRRC Submission

044127-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172223513-172258414 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172232274 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 796 (I796T)

Ref Sequence

ENSEMBL: ENSMUSP00000106874 (fasta)

Gene Model

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

AlphaFold

Q9WV27

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111243
AA Change: I796T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106874
Gene: ENSMUSG00000007107
AA Change: I796T

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

Meta Mutation Damage Score

0.5549

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

94% (99/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,070,348	P1766L	probably damaging	Het
Abca13	A	G	11: 9,249,658	Q119R	possibly damaging	Het
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Aipl1	A	C	11: 72,030,282	C237G	probably benign	Het
Ankdd1a	C	T	9: 65,509,696	A154T	probably benign	Het
Arglu1	T	C	8: 8,690,047	S91G	probably benign	Het
Arhgef33	C	A	17: 80,337,280	H13N	probably benign	Het
Birc6	C	G	17: 74,599,237	S1374R	probably damaging	Het
Birc6	T	A	17: 74,599,238	S72T	probably damaging	Het
Bmpr1b	T	C	3: 141,871,367	*59W	probably null	Het
Btbd16	A	T	7: 130,784,281	Q63L	probably damaging	Het
Cacna1c	C	T	6: 118,612,580	R1592H	probably damaging	Het
Caps2	G	A	10: 112,215,446	E541K	probably benign	Het
Card9	T	C	2: 26,352,497	E500G	probably damaging	Het
Carnmt1	T	C	19: 18,704,105	V396A	probably benign	Het
Ccnl1	T	A	3: 65,948,342	K320M	probably damaging	Het
Cdh20	A	C	1: 104,984,671	D550A	probably damaging	Het
Cdhr1	T	A	14: 37,089,462	T231S	probably benign	Het
Cenpe	T	C	3: 135,261,628	V2177A	probably benign	Het
Cfap69	A	G	5: 5,640,183	C161R	probably damaging	Het
Ctsd	C	T	7: 142,376,579	V403I	probably benign	Het
Cyth1	C	T	11: 118,185,759		probably null	Het
Dazl	A	T	17: 50,287,753		probably null	Het
Disp3	A	T	4: 148,241,313	C1329*	probably null	Het
Dld	C	T	12: 31,333,983	V374I	probably benign	Het
Dnah7c	T	C	1: 46,519,215	Y494H	probably damaging	Het
Dnttip2	T	A	3: 122,275,568	M144K	probably benign	Het
Drc1	A	T	5: 30,345,529	D132V	probably damaging	Het
Enpp6	A	G	8: 47,066,004	D269G	probably benign	Het
Ephx4	T	A	5: 107,403,765		probably null	Het
Evl	T	C	12: 108,683,257	S345P	possibly damaging	Het
Fam193a	A	T	5: 34,465,680	D1204V	probably damaging	Het
Fat2	A	T	11: 55,284,051	D1945E	probably damaging	Het
Fat4	T	C	3: 38,951,375		probably null	Het
Fbln7	A	T	2: 128,877,498	M72L	probably benign	Het
Flnc	T	C	6: 29,441,106	V353A	probably damaging	Het
Fry	T	C	5: 150,390,800		probably benign	Het
Galnt14	A	T	17: 73,526,305	C225S	probably benign	Het
Gapvd1	T	C	2: 34,684,291	S1265G	probably benign	Het
Gm13030	A	G	4: 138,871,204	F136S	unknown	Het
Gucy1a1	T	C	3: 82,094,807	H655R	probably damaging	Het
Hk1	A	G	10: 62,269,994	L890P	probably damaging	Het
Igfn1	T	A	1: 135,970,603	R742*	probably null	Het
Igkv12-49	T	C	6: 69,716,569		noncoding transcript	Het
Igkv2-109	T	A	6: 68,302,981	L62Q	possibly damaging	Het
Itgb3	A	G	11: 104,637,979	T311A	possibly damaging	Het
Kl	A	G	5: 150,989,483	E899G	probably damaging	Het
Kyat3	A	T	3: 142,723,260	D151V	probably damaging	Het
Morc2b	A	T	17: 33,138,609	M63K	possibly damaging	Het
Mtbp	T	A	15: 55,571,327	F298L	possibly damaging	Het
Mtmr3	C	T	11: 4,498,951	V272I	probably benign	Het
Muc4	A	G	16: 32,753,052	T977A	probably benign	Het
Nebl	G	A	2: 17,404,187	H367Y	probably benign	Het
Nop58	T	A	1: 59,704,665	Y274*	probably null	Het
Nuak1	T	A	10: 84,374,802	Q474L	probably damaging	Het
Obscn	A	G	11: 58,998,505	S7523P	unknown	Het
Olfr625-ps1	T	A	7: 103,683,473	C242S	probably damaging	Het
Oosp3	T	A	19: 11,705,389	D140E	probably benign	Het
Padi2	G	A	4: 140,917,641	R62H	probably benign	Het
Patl1	A	G	19: 11,939,772	N661S	probably benign	Het
Pcyox1l	G	T	18: 61,698,473	N238K	probably benign	Het
Pmch	A	G	10: 88,091,149	T5A	probably benign	Het
Polr3h	A	G	15: 81,916,634	L169P	probably damaging	Het
Ptpn4	A	G	1: 119,687,723	V567A	probably damaging	Het
Rasgrp2	T	G	19: 6,402,513	F39V	probably damaging	Het
Setd1b	G	A	5: 123,158,752		probably benign	Het
Sh3glb2	A	T	2: 30,350,389		probably null	Het
Slc46a3	A	T	5: 147,893,890	N44K	probably benign	Het
Slc9b1	T	A	3: 135,393,995	N425K	probably benign	Het
Slfn14	A	T	11: 83,279,462	V452E	probably damaging	Het
Slfn8	A	T	11: 83,003,335	M826K	probably benign	Het
Slit3	G	A	11: 35,629,751	V572M	probably benign	Het
Smr3a	C	A	5: 88,008,014		probably null	Het
Snap29	T	C	16: 17,406,330	S70P	probably damaging	Het
Svopl	T	A	6: 38,017,014		probably benign	Het
Tbc1d17	A	T	7: 44,845,337	F186I	probably damaging	Het
Tgm6	T	C	2: 130,141,256	V255A	probably damaging	Het
Tjp1	G	T	7: 65,302,852	T1498K	probably benign	Het
Tkfc	C	A	19: 10,597,347	E176D	probably benign	Het
Tmem102	C	T	11: 69,803,680	V489I	probably damaging	Het
Ttn	A	G	2: 76,721,437	V22930A	probably damaging	Het
Tyms	A	T	5: 30,073,359		probably null	Het
Uaca	T	A	9: 60,840,956	D67E	probably damaging	Het
Unc119b	G	A	5: 115,127,449		probably benign	Het
Usp29	A	T	7: 6,961,745	T196S	probably benign	Het
Usp37	A	G	1: 74,485,982	S228P	probably damaging	Het
Usp42	C	A	5: 143,715,515	A918S	probably benign	Het
Vmn2r72	T	A	7: 85,737,850	L835F	probably benign	Het
Vps13a	T	C	19: 16,660,530	T2396A	probably benign	Het
Whrn	A	T	4: 63,494,708	S176T	probably damaging	Het
Zbtb42	T	C	12: 112,680,621	F410S	probably damaging	Het
Zfp616	T	C	11: 74,083,126	S74P	probably damaging	Het
Zswim6	A	G	13: 107,744,107		noncoding transcript	Het

Other mutations in Atp1a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Atp1a4	APN	1	172239806	missense	probably damaging	1.00
IGL00924:Atp1a4	APN	1	172246772	missense	probably damaging	1.00
IGL01288:Atp1a4	APN	1	172257907	missense	possibly damaging	0.77
IGL01665:Atp1a4	APN	1	172246724	missense	probably benign
IGL02156:Atp1a4	APN	1	172257962	missense	probably benign
IGL02170:Atp1a4	APN	1	172234536	missense	possibly damaging	0.94
IGL02228:Atp1a4	APN	1	172254885	missense	possibly damaging	0.69
IGL02505:Atp1a4	APN	1	172235075	missense	probably damaging	1.00
IGL02653:Atp1a4	APN	1	172251406	missense	possibly damaging	0.81
IGL02792:Atp1a4	APN	1	172227299	critical splice donor site	probably null
IGL02794:Atp1a4	APN	1	172244086	missense	probably benign	0.13
IGL03102:Atp1a4	APN	1	172231151	missense	probably damaging	1.00
R0046:Atp1a4	UTSW	1	172240097	missense	probably benign	0.09
R0046:Atp1a4	UTSW	1	172240097	missense	probably benign	0.09
R0276:Atp1a4	UTSW	1	172257901	missense	probably damaging	1.00
R0309:Atp1a4	UTSW	1	172234987	missense	probably damaging	1.00
R0525:Atp1a4	UTSW	1	172239688	splice site	probably benign
R0615:Atp1a4	UTSW	1	172232060	splice site	probably benign
R0730:Atp1a4	UTSW	1	172240207	splice site	probably benign
R1412:Atp1a4	UTSW	1	172232009	missense	probably damaging	0.97
R1652:Atp1a4	UTSW	1	172254903	missense	probably damaging	1.00
R1898:Atp1a4	UTSW	1	172235048	missense	probably damaging	0.99
R1968:Atp1a4	UTSW	1	172240164	missense	probably benign
R2291:Atp1a4	UTSW	1	172244906	missense	probably damaging	1.00
R2897:Atp1a4	UTSW	1	172246690	missense	probably damaging	1.00
R2908:Atp1a4	UTSW	1	172234477	missense	probably benign
R3119:Atp1a4	UTSW	1	172239826	missense	probably damaging	0.99
R3731:Atp1a4	UTSW	1	172233961	missense	probably damaging	1.00
R4447:Atp1a4	UTSW	1	172234431	missense	probably damaging	0.99
R4602:Atp1a4	UTSW	1	172239765	missense	probably damaging	1.00
R4670:Atp1a4	UTSW	1	172235000	missense	probably benign	0.07
R4674:Atp1a4	UTSW	1	172257656	missense	possibly damaging	0.81
R4675:Atp1a4	UTSW	1	172257656	missense	possibly damaging	0.81
R4785:Atp1a4	UTSW	1	172254110	nonsense	probably null
R4958:Atp1a4	UTSW	1	172231151	missense	probably damaging	1.00
R5015:Atp1a4	UTSW	1	172254082	missense	probably damaging	1.00
R5149:Atp1a4	UTSW	1	172232005	missense	probably damaging	1.00
R5234:Atp1a4	UTSW	1	172227170	missense	possibly damaging	0.73
R5501:Atp1a4	UTSW	1	172246832	missense	probably damaging	1.00
R5682:Atp1a4	UTSW	1	172254163	missense	probably damaging	0.99
R5872:Atp1a4	UTSW	1	172244408	missense	probably damaging	1.00
R6722:Atp1a4	UTSW	1	172258050	unclassified	probably benign
R7087:Atp1a4	UTSW	1	172246702	missense	probably damaging	1.00
R7122:Atp1a4	UTSW	1	172231936	missense	possibly damaging	0.47
R7381:Atp1a4	UTSW	1	172240115	missense	possibly damaging	0.70
R7431:Atp1a4	UTSW	1	172250907	missense	probably benign	0.31
R8269:Atp1a4	UTSW	1	172232325	missense	probably damaging	1.00
R8400:Atp1a4	UTSW	1	172234494	missense	probably damaging	1.00
R8559:Atp1a4	UTSW	1	172251330	missense	probably damaging	1.00
R8680:Atp1a4	UTSW	1	172250999	missense	probably damaging	1.00
R8777:Atp1a4	UTSW	1	172232302	missense	probably damaging	1.00
R8777-TAIL:Atp1a4	UTSW	1	172232302	missense	probably damaging	1.00
R8867:Atp1a4	UTSW	1	172244924	missense	probably damaging	0.99
R8869:Atp1a4	UTSW	1	172227123	missense	probably benign
R9260:Atp1a4	UTSW	1	172246792	missense	probably damaging	1.00
R9300:Atp1a4	UTSW	1	172239831	missense	probably damaging	1.00
R9545:Atp1a4	UTSW	1	172250897	missense	probably benign	0.35
Z1176:Atp1a4	UTSW	1	172231954	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- CAGGTGATTCATAAGCCAGGG -3'
(R):5'- ACGACTTCCCAGCATTTTCATG -3'

Sequencing Primer
(F):5'- GTTCAGAAGACACTCTAGAGCTGTC -3'
(R):5'- ATGGATCACCCCTTTCTAGCAAC -3'

Posted On

2017-02-28