Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02873:Atp1a1'

362594

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp1a1

Ensembl Gene

ENSMUSG00000033161

Gene Name

ATPase, Na+/K+ transporting, alpha 1 polypeptide

Synonyms

Atpa-1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02873

Quality Score

Status

Chromosome

Chromosomal Location

101576219-101604684 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101576578 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1017 (V1017A)

Ref Sequence

ENSEMBL: ENSMUSP00000039657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036493]

AlphaFold

Q8VDN2

Predicted Effect

probably benign
Transcript: ENSMUST00000036493
AA Change: V1017A

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: V1017A

Domain	Start	End	E-Value	Type
low complexity region	21	28	N/A	INTRINSIC
Cation_ATPase_N	42	116	5e-20	SMART
Pfam:E1-E2_ATPase	134	365	1.6e-59	PFAM
Pfam:Hydrolase	370	729	2.7e-19	PFAM
Pfam:HAD	373	726	1.3e-18	PFAM
Pfam:Cation_ATPase	426	521	2.2e-25	PFAM
Pfam:Cation_ATPase_C	799	1008	1.2e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197360

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 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene have a lethal phenotype. Heterozygotes display increased anxiety and decreased exploratory behavior in a new environment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,327,040	L528P	probably damaging	Het
4933405O20Rik	A	T	7: 50,599,683	H155L	probably damaging	Het
5830462I19Rik	G	A	9: 110,374,378		probably benign	Het
Ankib1	T	A	5: 3,772,619	Q29L	probably damaging	Het
Arid5b	A	T	10: 68,101,950	M449K	probably benign	Het
Cfap52	G	T	11: 67,931,782	T421K	probably damaging	Het
Chd8	A	T	14: 52,222,513	I780N	probably damaging	Het
Cubn	T	C	2: 13,294,370	D3164G	probably benign	Het
Cyp4f37	A	T	17: 32,625,168	Q82L	probably benign	Het
Eml6	T	A	11: 29,880,700	D265V	probably benign	Het
Gm14393	T	C	2: 175,061,802	D104G	possibly damaging	Het
Gpat2	T	C	2: 127,431,755	V271A	probably benign	Het
Ifna4	T	C	4: 88,842,186	F109S	probably damaging	Het
Il27ra	T	C	8: 84,031,535	S529G	probably benign	Het
Jag2	A	G	12: 112,910,502	L1011P	probably benign	Het
Kif7	A	G	7: 79,706,759	L728P	probably damaging	Het
Klhl21	T	C	4: 152,015,360	V509A	probably benign	Het
Map2k4	T	A	11: 65,719,574	N92I	probably damaging	Het
Myo15	A	T	11: 60,483,482	D1288V	probably damaging	Het
Olfr1002	C	A	2: 85,647,752	A190S	possibly damaging	Het
Olfr1281	T	C	2: 111,328,872	V151A	probably benign	Het
Paip1	T	A	13: 119,445,812	F275L	possibly damaging	Het
Plxnd1	T	C	6: 115,959,976	D1624G	probably damaging	Het
Ppwd1	C	A	13: 104,209,753	D465Y	probably damaging	Het
Rftn1	A	C	17: 50,169,152		probably benign	Het
Scn1b	T	A	7: 31,117,757	Y180F	probably damaging	Het
Slc16a4	A	G	3: 107,300,795	D207G	probably benign	Het
Slc2a3	T	C	6: 122,740,414	T28A	probably damaging	Het
Slc47a1	G	A	11: 61,362,817		probably benign	Het
Spata1	A	T	3: 146,487,367	V123D	possibly damaging	Het
Stard9	T	C	2: 120,713,807	V4469A	probably damaging	Het
Trmu	T	A	15: 85,896,832		probably null	Het
Trrap	T	A	5: 144,841,079		probably benign	Het
Ttn	T	C	2: 76,896,131		probably benign	Het
Tubgcp6	T	C	15: 89,103,824	D974G	probably benign	Het
Tyw1	C	T	5: 130,335,330	R621C	probably benign	Het
Usp7	A	T	16: 8,695,194		probably benign	Het
Zfp39	T	C	11: 58,891,022	K305E	probably benign	Het
Zfp692	C	T	11: 58,308,939	T118M	probably damaging	Het

Other mutations in Atp1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Atp1a1	APN	3	101591453	missense	probably damaging	1.00
IGL01700:Atp1a1	APN	3	101594258	missense	possibly damaging	0.95
IGL01836:Atp1a1	APN	3	101591414	missense	probably damaging	1.00
IGL01863:Atp1a1	APN	3	101591889	nonsense	probably null
IGL02021:Atp1a1	APN	3	101594208	missense	probably benign	0.02
IGL02078:Atp1a1	APN	3	101591863	missense	probably damaging	1.00
IGL02934:Atp1a1	APN	3	101576992	nonsense	probably null
IGL03068:Atp1a1	APN	3	101583859	missense	probably benign	0.26
PIT4453001:Atp1a1	UTSW	3	101581179	missense	probably benign	0.01
R0009:Atp1a1	UTSW	3	101579835	missense	possibly damaging	0.67
R0506:Atp1a1	UTSW	3	101589812	missense	probably damaging	0.96
R0724:Atp1a1	UTSW	3	101592439	missense	possibly damaging	0.50
R0826:Atp1a1	UTSW	3	101584853	missense	probably damaging	0.99
R1457:Atp1a1	UTSW	3	101590466	missense	probably damaging	1.00
R1732:Atp1a1	UTSW	3	101584799	missense	probably damaging	1.00
R1843:Atp1a1	UTSW	3	101582017	missense	probably benign	0.43
R2172:Atp1a1	UTSW	3	101590548	missense	probably benign
R3770:Atp1a1	UTSW	3	101581194	missense	probably benign	0.17
R3905:Atp1a1	UTSW	3	101590612	missense	probably benign	0.00
R4602:Atp1a1	UTSW	3	101586943	missense	probably benign	0.00
R4611:Atp1a1	UTSW	3	101586943	missense	probably benign	0.00
R4715:Atp1a1	UTSW	3	101591806	missense	possibly damaging	0.90
R4777:Atp1a1	UTSW	3	101594996	critical splice donor site	probably null
R4795:Atp1a1	UTSW	3	101583775	missense	probably benign	0.15
R5030:Atp1a1	UTSW	3	101579817	missense	probably benign	0.22
R5066:Atp1a1	UTSW	3	101582104	missense	probably damaging	0.98
R5165:Atp1a1	UTSW	3	101581789	missense	probably benign	0.01
R5297:Atp1a1	UTSW	3	101591127	missense	possibly damaging	0.82
R5307:Atp1a1	UTSW	3	101589964	missense	probably damaging	1.00
R5379:Atp1a1	UTSW	3	101582095	missense	probably benign	0.01
R5495:Atp1a1	UTSW	3	101591425	missense	probably benign	0.01
R5946:Atp1a1	UTSW	3	101589774	missense	probably benign	0.12
R6125:Atp1a1	UTSW	3	101590707	missense	probably damaging	1.00
R6789:Atp1a1	UTSW	3	101586298	missense	possibly damaging	0.71
R7339:Atp1a1	UTSW	3	101589872	missense	probably benign	0.44
R7552:Atp1a1	UTSW	3	101582121	nonsense	probably null
R7825:Atp1a1	UTSW	3	101586169	missense	probably benign	0.00
R8098:Atp1a1	UTSW	3	101582049	missense	probably damaging	0.97
R8175:Atp1a1	UTSW	3	101584854	missense	possibly damaging	0.79
R8281:Atp1a1	UTSW	3	101579624	missense	probably benign	0.12
R8403:Atp1a1	UTSW	3	101586904	missense	probably damaging	1.00
R8435:Atp1a1	UTSW	3	101582762	missense	probably benign
R8461:Atp1a1	UTSW	3	101589089	missense	probably benign	0.01
R8772:Atp1a1	UTSW	3	101579808	missense	probably benign
R8782:Atp1a1	UTSW	3	101594217	missense	possibly damaging	0.63
R8919:Atp1a1	UTSW	3	101591231	missense	probably damaging	1.00
R9066:Atp1a1	UTSW	3	101582022	missense	probably damaging	1.00
R9227:Atp1a1	UTSW	3	101592434	missense	probably damaging	1.00
X0019:Atp1a1	UTSW	3	101594213	missense	probably benign	0.03

Posted On

2015-12-18