Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Atp1a1'

555295

Institutional Source

Beutler Lab

Gene Symbol

Atp1a1

Ensembl Gene

ENSMUSG00000033161

Gene Name

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

Synonyms

Atpa-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4453001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101576219-101604684 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101581179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 847 (E847G)

Ref Sequence

ENSEMBL: ENSMUSP00000039657 (fasta)

Gene Model

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

AlphaFold

Q8VDN2

Predicted Effect

probably benign
Transcript: ENSMUST00000036493
AA Change: E847G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: E847G

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

Coding Region Coverage

1x: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316 (GRCm38)	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782 (GRCm38)	L334*	probably null	Het
Adam28	A	T	14: 68,634,876 (GRCm38)	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312 (GRCm38)	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636 (GRCm38)	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460 (GRCm38)	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686 (GRCm38)	C295*	probably null	Het
Amn1	G	T	6: 149,170,859 (GRCm38)	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549 (GRCm38)	V314M	probably damaging	Het
Atp2b1	A	G	10: 99,016,978 (GRCm38)	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292 (GRCm38)	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106 (GRCm38)	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476 (GRCm38)	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079 (GRCm38)	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872 (GRCm38)	S298R	possibly damaging	Het
Cul7	T	A	17: 46,651,820 (GRCm38)	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,011,791 (GRCm38)	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474 (GRCm38)	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644 (GRCm38)	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522 (GRCm38)		probably null	Het
Dock1	A	G	7: 135,152,300 (GRCm38)	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339 (GRCm38)	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489 (GRCm38)	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810 (GRCm38)	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314 (GRCm38)	V268M		Het
Gart	A	G	16: 91,636,538 (GRCm38)	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538 (GRCm38)	N391K	probably benign	Het
Greb1l	G	T	18: 10,533,032 (GRCm38)	Q975H	probably benign	Het
Greb1l	A	C	18: 10,533,031 (GRCm38)	Q975P	probably damaging	Het
Grik5	C	A	7: 25,010,694 (GRCm38)	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057 (GRCm38)	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852 (GRCm38)	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954 (GRCm38)	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872 (GRCm38)	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170 (GRCm38)	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173 (GRCm38)	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114 (GRCm38)	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321 (GRCm38)		probably benign	Het
Lamp3	G	T	16: 19,673,460 (GRCm38)	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794 (GRCm38)	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417 (GRCm38)	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673 (GRCm38)	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254 (GRCm38)	F392Y	probably benign	Het
Obscn	C	A	11: 59,060,976 (GRCm38)	G3984W	probably damaging	Het
Obscn	T	A	11: 59,069,834 (GRCm38)	H3217L	possibly damaging	Het
Olfr1157	C	T	2: 87,962,458 (GRCm38)	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626 (GRCm38)	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929 (GRCm38)	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842 (GRCm38)	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464 (GRCm38)	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472 (GRCm38)	A258S	probably benign	Het
Parn	T	C	16: 13,607,281 (GRCm38)	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308 (GRCm38)	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756 (GRCm38)		probably null	Het
Pcsk1	A	T	13: 75,112,650 (GRCm38)	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022 (GRCm38)	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801 (GRCm38)	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,963,469 (GRCm38)	Q1119K		Het
Prr30	T	A	14: 101,198,935 (GRCm38)	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370 (GRCm38)	N111S	probably benign	Het
Reck	G	A	4: 43,895,850 (GRCm38)	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397 (GRCm38)	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779 (GRCm38)	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038 (GRCm38)	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382 (GRCm38)	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449 (GRCm38)	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320 (GRCm38)	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783 (GRCm38)		probably null	Het
St8sia1	C	T	6: 142,829,252 (GRCm38)	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502 (GRCm38)	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857 (GRCm38)	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880 (GRCm38)	R876S	unknown	Het
Thap12	G	T	7: 98,715,038 (GRCm38)	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614 (GRCm38)		probably null	Het
Traf4	G	A	11: 78,161,534 (GRCm38)	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598 (GRCm38)		probably null	Het
Usp20	G	A	2: 31,017,486 (GRCm38)	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316 (GRCm38)		probably benign	Het
Vmn1r21	T	C	6: 57,844,322 (GRCm38)	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742 (GRCm38)	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003 (GRCm38)	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757 (GRCm38)	H1141R	probably benign	Het

Other mutations in Atp1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Atp1a1	APN	3	101,591,453 (GRCm38)	missense	probably damaging	1.00
IGL01700:Atp1a1	APN	3	101,594,258 (GRCm38)	missense	possibly damaging	0.95
IGL01836:Atp1a1	APN	3	101,591,414 (GRCm38)	missense	probably damaging	1.00
IGL01863:Atp1a1	APN	3	101,591,889 (GRCm38)	nonsense	probably null
IGL02021:Atp1a1	APN	3	101,594,208 (GRCm38)	missense	probably benign	0.02
IGL02078:Atp1a1	APN	3	101,591,863 (GRCm38)	missense	probably damaging	1.00
IGL02873:Atp1a1	APN	3	101,576,578 (GRCm38)	missense	probably benign	0.16
IGL02934:Atp1a1	APN	3	101,576,992 (GRCm38)	nonsense	probably null
IGL03068:Atp1a1	APN	3	101,583,859 (GRCm38)	missense	probably benign	0.26
R0009:Atp1a1	UTSW	3	101,579,835 (GRCm38)	missense	possibly damaging	0.67
R0506:Atp1a1	UTSW	3	101,589,812 (GRCm38)	missense	probably damaging	0.96
R0724:Atp1a1	UTSW	3	101,592,439 (GRCm38)	missense	possibly damaging	0.50
R0826:Atp1a1	UTSW	3	101,584,853 (GRCm38)	missense	probably damaging	0.99
R1457:Atp1a1	UTSW	3	101,590,466 (GRCm38)	missense	probably damaging	1.00
R1732:Atp1a1	UTSW	3	101,584,799 (GRCm38)	missense	probably damaging	1.00
R1843:Atp1a1	UTSW	3	101,582,017 (GRCm38)	missense	probably benign	0.43
R2172:Atp1a1	UTSW	3	101,590,548 (GRCm38)	missense	probably benign
R3770:Atp1a1	UTSW	3	101,581,194 (GRCm38)	missense	probably benign	0.17
R3905:Atp1a1	UTSW	3	101,590,612 (GRCm38)	missense	probably benign	0.00
R4602:Atp1a1	UTSW	3	101,586,943 (GRCm38)	missense	probably benign	0.00
R4611:Atp1a1	UTSW	3	101,586,943 (GRCm38)	missense	probably benign	0.00
R4715:Atp1a1	UTSW	3	101,591,806 (GRCm38)	missense	possibly damaging	0.90
R4777:Atp1a1	UTSW	3	101,594,996 (GRCm38)	critical splice donor site	probably null
R4795:Atp1a1	UTSW	3	101,583,775 (GRCm38)	missense	probably benign	0.15
R5030:Atp1a1	UTSW	3	101,579,817 (GRCm38)	missense	probably benign	0.22
R5066:Atp1a1	UTSW	3	101,582,104 (GRCm38)	missense	probably damaging	0.98
R5165:Atp1a1	UTSW	3	101,581,789 (GRCm38)	missense	probably benign	0.01
R5297:Atp1a1	UTSW	3	101,591,127 (GRCm38)	missense	possibly damaging	0.82
R5307:Atp1a1	UTSW	3	101,589,964 (GRCm38)	missense	probably damaging	1.00
R5379:Atp1a1	UTSW	3	101,582,095 (GRCm38)	missense	probably benign	0.01
R5495:Atp1a1	UTSW	3	101,591,425 (GRCm38)	missense	probably benign	0.01
R5946:Atp1a1	UTSW	3	101,589,774 (GRCm38)	missense	probably benign	0.12
R6125:Atp1a1	UTSW	3	101,590,707 (GRCm38)	missense	probably damaging	1.00
R6789:Atp1a1	UTSW	3	101,586,298 (GRCm38)	missense	possibly damaging	0.71
R7339:Atp1a1	UTSW	3	101,589,872 (GRCm38)	missense	probably benign	0.44
R7552:Atp1a1	UTSW	3	101,582,121 (GRCm38)	nonsense	probably null
R7825:Atp1a1	UTSW	3	101,586,169 (GRCm38)	missense	probably benign	0.00
R8098:Atp1a1	UTSW	3	101,582,049 (GRCm38)	missense	probably damaging	0.97
R8175:Atp1a1	UTSW	3	101,584,854 (GRCm38)	missense	possibly damaging	0.79
R8281:Atp1a1	UTSW	3	101,579,624 (GRCm38)	missense	probably benign	0.12
R8403:Atp1a1	UTSW	3	101,586,904 (GRCm38)	missense	probably damaging	1.00
R8435:Atp1a1	UTSW	3	101,582,762 (GRCm38)	missense	probably benign
R8461:Atp1a1	UTSW	3	101,589,089 (GRCm38)	missense	probably benign	0.01
R8772:Atp1a1	UTSW	3	101,579,808 (GRCm38)	missense	probably benign
R8782:Atp1a1	UTSW	3	101,594,217 (GRCm38)	missense	possibly damaging	0.63
R8919:Atp1a1	UTSW	3	101,591,231 (GRCm38)	missense	probably damaging	1.00
R9066:Atp1a1	UTSW	3	101,582,022 (GRCm38)	missense	probably damaging	1.00
R9227:Atp1a1	UTSW	3	101,592,434 (GRCm38)	missense	probably damaging	1.00
R9712:Atp1a1	UTSW	3	101,591,441 (GRCm38)	missense	probably benign	0.06
X0019:Atp1a1	UTSW	3	101,594,213 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CAGAACTGAAGTCAGAGCCTTAC -3'
(R):5'- TTAAGAGAGCCTGCCAGGTC -3'

Sequencing Primer
(F):5'- AGCCTTACTCTACGGCTGG -3'
(R):5'- GCCAGGTCTCCCATTTAACATAC -3'

Posted On

2019-06-07