Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02792:Atp1a4'

359816

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 #

IGL02792

Quality Score

Status

Chromosome

Chromosomal Location

172223513-172258414 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 172227299 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106874 (fasta)

Gene Model

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

AlphaFold

Q9WV27

Predicted Effect

probably null
Transcript: ENSMUST00000111243

SMART Domains

Protein: ENSMUSP00000106874
Gene: ENSMUSG00000007107

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	A	17: 48,090,587	V131M	probably benign	Het
Abca6	A	T	11: 110,188,681	C1216S	probably damaging	Het
Acly	T	C	11: 100,478,410	K1018E	probably damaging	Het
Acsl5	G	A	19: 55,293,731		probably null	Het
Adgrb1	C	A	15: 74,547,622	L771I	probably damaging	Het
Adh7	A	T	3: 138,223,737	K89I	probably damaging	Het
Adora2b	A	T	11: 62,265,483	I253F	possibly damaging	Het
Akna	G	A	4: 63,377,706	P975S	possibly damaging	Het
Alg9	T	C	9: 50,842,748	L576P	possibly damaging	Het
Arhgap20	A	G	9: 51,849,918	E1023G	possibly damaging	Het
Astn2	A	T	4: 65,644,821	S908T	probably benign	Het
Cabin1	T	C	10: 75,746,739	Y281C	probably damaging	Het
Cdc42bpb	G	T	12: 111,299,561	F1312L	probably benign	Het
Cfap65	A	C	1: 74,927,178	F330C	probably damaging	Het
Col27a1	C	T	4: 63,315,583	P689S	unknown	Het
Col4a3	A	T	1: 82,718,803	K1643N	probably damaging	Het
Dopey2	T	A	16: 93,801,572	V1875D	possibly damaging	Het
Eftud2	A	G	11: 102,870,256		probably benign	Het
Ergic3	C	A	2: 156,017,850	T357K	probably damaging	Het
Glra1	A	T	11: 55,536,400	D36E	probably damaging	Het
Gpatch1	A	G	7: 35,301,593	Y330H	probably damaging	Het
Hmcn2	T	C	2: 31,346,590	S382P	probably damaging	Het
Kat6a	G	A	8: 22,938,300	E1224K	probably damaging	Het
Klk13	A	G	7: 43,721,414	E29G	possibly damaging	Het
Klra9	T	C	6: 130,188,680	D124G	probably benign	Het
Lrmda	T	C	14: 22,019,910		probably null	Het
Ltbp1	G	A	17: 75,282,994	V539M	probably damaging	Het
Ngfr	A	C	11: 95,571,861	L317R	probably damaging	Het
Nlrp6	C	A	7: 140,922,435	H151Q	probably damaging	Het
Nnt	A	G	13: 119,357,646	L633P	probably damaging	Het
Nxpe3	C	T	16: 55,866,172	V158M	probably damaging	Het
Olfr266	T	C	3: 106,822,140	T140A	probably damaging	Het
Olfr716	T	C	7: 107,148,218	F301L	probably benign	Het
Olfr828	C	T	9: 18,815,958	S112N	probably benign	Het
Pla2g4f	T	C	2: 120,303,369	Y517C	probably damaging	Het
Poc1a	A	T	9: 106,295,194	I207F	possibly damaging	Het
Polr2a	A	G	11: 69,746,112	S338P	probably damaging	Het
Ptprz1	T	C	6: 22,959,723	V73A	probably damaging	Het
Relb	A	T	7: 19,613,864	L281Q	probably damaging	Het
Rrp8	A	T	7: 105,733,811	L382*	probably null	Het
Setd1a	C	T	7: 127,791,350	S523F	unknown	Het
Slamf8	A	G	1: 172,588,130	I47T	probably damaging	Het
Slc16a4	G	A	3: 107,298,877	A88T	probably benign	Het
Sox6	C	T	7: 115,541,649	M532I	probably benign	Het
Tcp11l1	T	A	2: 104,681,820	Y489F	probably benign	Het
Tdrd6	T	G	17: 43,625,027	D1710A	probably benign	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Vangl1	A	T	3: 102,163,423	I399N	probably damaging	Het
Vmn1r201	T	C	13: 22,474,844	L76P	probably damaging	Het
Vmn1r58	T	C	7: 5,411,229	M1V	probably null	Het
Wdfy4	T	C	14: 33,095,305	I1561V	probably benign	Het
Xkr9	A	G	1: 13,700,803	D181G	probably damaging	Het
Zfp318	T	C	17: 46,409,178	F1101L	probably damaging	Het
Zfpm2	C	A	15: 41,103,013	Q833K	probably benign	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
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
R5933:Atp1a4	UTSW	1	172232274	missense	possibly damaging	0.91
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

Posted On

2015-12-18