Mutagenetix > Incidental Mutation

Incidental Mutation 'R4611:Atp1a1'

344689

Institutional Source

Beutler Lab

Gene Symbol

Atp1a1

Ensembl Gene

ENSMUSG00000033161

Gene Name

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

Synonyms

Atpa-1

MMRRC Submission

041822-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101483535-101512000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101494259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 447 (V447A)

Ref Sequence

ENSEMBL: ENSMUSP00000039657 (fasta)

Gene Model

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

AlphaFold

Q8VDN2

Predicted Effect

probably benign
Transcript: ENSMUST00000036493
AA Change: V447A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: V447A

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: ENSMUST00000136340

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,885,259 (GRCm39)	R200C	probably benign	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aoc1l1	A	T	6: 48,952,090 (GRCm39)	Q5L	probably benign	Het
Apc	T	C	18: 34,451,618 (GRCm39)	L2804P	probably damaging	Het
Apob	C	A	12: 8,061,331 (GRCm39)	A3271E	probably damaging	Het
Asl	G	T	5: 130,047,157 (GRCm39)	A147E	probably damaging	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Bcl11b	T	C	12: 107,882,789 (GRCm39)	K509E	probably damaging	Het
Btnl1	T	C	17: 34,598,699 (GRCm39)	I105T	probably damaging	Het
Btnl10	A	G	11: 58,811,183 (GRCm39)	T169A	probably damaging	Het
C8b	T	C	4: 104,647,841 (GRCm39)	I278T	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd8b1	T	C	6: 71,309,459 (GRCm39)	V181A	probably benign	Het
Cdan1	A	T	2: 120,561,201 (GRCm39)	V189D	probably damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cfap52	T	C	11: 67,817,247 (GRCm39)	N549D	probably damaging	Het
Cmklr1	C	T	5: 113,752,930 (GRCm39)	V24M	probably benign	Het
Cntnap4	G	T	8: 113,500,371 (GRCm39)		probably null	Het
Col27a1	G	A	4: 63,211,743 (GRCm39)	G91R	probably damaging	Het
Col5a3	A	G	9: 20,726,192 (GRCm39)		probably benign	Het
Dcc	C	T	18: 71,682,069 (GRCm39)		probably null	Het
Deaf1	T	A	7: 140,890,884 (GRCm39)	T433S	possibly damaging	Het
Dnah8	T	A	17: 30,903,211 (GRCm39)	L950H	probably damaging	Het
Dnajc7	A	T	11: 100,481,803 (GRCm39)	Y228*	probably null	Het
Eno1b	T	C	18: 48,180,770 (GRCm39)	V316A	probably damaging	Het
Exoc4	T	C	6: 33,415,340 (GRCm39)	M404T	possibly damaging	Het
Fignl1	A	T	11: 11,751,268 (GRCm39)	C596S	probably benign	Het
Fn1	A	C	1: 71,663,337 (GRCm39)	Y1050*	probably null	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gba2	T	A	4: 43,568,092 (GRCm39)	S732C	probably damaging	Het
Gcnt4	C	A	13: 97,082,990 (GRCm39)	S95R	probably benign	Het
Gpr37	A	G	6: 25,669,623 (GRCm39)	V407A	probably benign	Het
Gria2	A	T	3: 80,599,799 (GRCm39)	M695K	probably damaging	Het
Hoxa9	T	C	6: 52,202,690 (GRCm39)	K132R	probably damaging	Het
Ifi213	T	A	1: 173,417,480 (GRCm39)	T311S	possibly damaging	Het
Itgb2	T	A	10: 77,385,884 (GRCm39)	N282K	probably damaging	Het
Kcnh8	A	T	17: 52,909,864 (GRCm39)	Q11L	probably benign	Het
Klk14	T	C	7: 43,343,781 (GRCm39)	C163R	probably damaging	Het
Klk1b3	T	A	7: 43,850,689 (GRCm39)	W74R	possibly damaging	Het
Krtap13-1	G	T	16: 88,526,142 (GRCm39)	C122F	possibly damaging	Het
Luzp2	T	C	7: 54,713,104 (GRCm39)		probably null	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,570,576 (GRCm39)	V1211E	probably benign	Het
Myb	T	A	10: 21,021,223 (GRCm39)	D402V	probably damaging	Het
Ncor2	G	A	5: 125,107,923 (GRCm39)	T1593I	probably damaging	Het
Ndst3	A	G	3: 123,465,198 (GRCm39)	I258T	probably benign	Het
Npy6r	C	A	18: 44,409,468 (GRCm39)	H296Q	probably damaging	Het
Olfml2b	T	A	1: 170,472,516 (GRCm39)	L9H	probably damaging	Het
Or10a3n	A	G	7: 108,493,324 (GRCm39)	C97R	probably damaging	Het
Or1a1b	A	T	11: 74,097,361 (GRCm39)	V227D	possibly damaging	Het
Or2w2	A	T	13: 21,757,744 (GRCm39)	V294D	probably damaging	Het
Or4k15	C	A	14: 50,364,530 (GRCm39)	N165K	probably benign	Het
Or5b119	C	T	19: 13,457,376 (GRCm39)	C62Y	probably damaging	Het
Or5b94	T	A	19: 12,652,318 (GRCm39)	Y250N	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Parg	G	A	14: 31,996,821 (GRCm39)	R304Q	probably damaging	Het
Pdf	T	G	8: 107,775,167 (GRCm39)	S22R	probably benign	Het
Phlpp2	A	T	8: 110,603,515 (GRCm39)	R60S	possibly damaging	Het
Piwil2	C	T	14: 70,639,646 (GRCm39)	E401K	probably benign	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Polr3a	T	C	14: 24,502,576 (GRCm39)		probably null	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Ptch2	G	A	4: 116,967,575 (GRCm39)	D748N	probably benign	Het
Rai14	A	C	15: 10,592,224 (GRCm39)	Y224D	probably damaging	Het
Rft1	A	G	14: 30,411,747 (GRCm39)	I432V	probably damaging	Het
Rictor	C	T	15: 6,816,625 (GRCm39)	A1299V	possibly damaging	Het
Sall2	A	G	14: 52,551,210 (GRCm39)	C662R	probably damaging	Het
Scn4b	A	G	9: 45,061,737 (GRCm39)	N208D	probably damaging	Het
Sdhb	G	A	4: 140,700,226 (GRCm39)	G109R	probably damaging	Het
Sec16a	A	G	2: 26,331,817 (GRCm39)	V66A	probably benign	Het
Sema4g	A	G	19: 44,990,051 (GRCm39)	Y710C	probably damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Shc4	T	A	2: 125,497,602 (GRCm39)	D369V	probably benign	Het
Siglech	T	C	7: 55,421,441 (GRCm39)	L285P	probably damaging	Het
Skint6	A	G	4: 112,931,273 (GRCm39)	M506T	probably benign	Het
Slco1a6	C	A	6: 142,047,378 (GRCm39)	C404F	probably benign	Het
Slfn14	T	A	11: 83,174,140 (GRCm39)	K284*	probably null	Het
Sox14	A	G	9: 99,757,715 (GRCm39)	I8T	probably damaging	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Tdpoz3	A	T	3: 93,734,330 (GRCm39)	H335L	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tnik	T	C	3: 28,596,249 (GRCm39)		probably null	Het
Tnpo2	T	C	8: 85,780,432 (GRCm39)	S720P	probably benign	Het
Tpst1	A	G	5: 130,130,547 (GRCm39)	K6E	probably damaging	Het
Trank1	T	A	9: 111,191,329 (GRCm39)	I446N	probably damaging	Het
Trmt44	A	T	5: 35,732,351 (GRCm39)	D13E	probably benign	Het
Ubr4	T	A	4: 139,126,890 (GRCm39)	V471E	possibly damaging	Het
Ubtd1	A	G	19: 42,022,030 (GRCm39)	T101A	probably benign	Het
Ugt3a1	A	T	15: 9,306,486 (GRCm39)	K212*	probably null	Het
Zbtb7c	C	T	18: 76,269,918 (GRCm39)	A2V	possibly damaging	Het
Zfp423	C	T	8: 88,414,709 (GRCm39)	G1182D	possibly damaging	Het
Zfp618	G	A	4: 63,051,216 (GRCm39)	V666M	probably damaging	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo
Zscan20	T	C	4: 128,481,899 (GRCm39)	T588A	probably benign	Het
Zscan25	G	A	5: 145,227,926 (GRCm39)	R530H	probably damaging	Het

Other mutations in Atp1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Atp1a1	APN	3	101,498,769 (GRCm39)	missense	probably damaging	1.00
IGL01700:Atp1a1	APN	3	101,501,574 (GRCm39)	missense	possibly damaging	0.95
IGL01836:Atp1a1	APN	3	101,498,730 (GRCm39)	missense	probably damaging	1.00
IGL01863:Atp1a1	APN	3	101,499,205 (GRCm39)	nonsense	probably null
IGL02021:Atp1a1	APN	3	101,501,524 (GRCm39)	missense	probably benign	0.02
IGL02078:Atp1a1	APN	3	101,499,179 (GRCm39)	missense	probably damaging	1.00
IGL02873:Atp1a1	APN	3	101,483,894 (GRCm39)	missense	probably benign	0.16
IGL02934:Atp1a1	APN	3	101,484,308 (GRCm39)	nonsense	probably null
IGL03068:Atp1a1	APN	3	101,491,175 (GRCm39)	missense	probably benign	0.26
PIT4453001:Atp1a1	UTSW	3	101,488,495 (GRCm39)	missense	probably benign	0.01
R0009:Atp1a1	UTSW	3	101,487,151 (GRCm39)	missense	possibly damaging	0.67
R0506:Atp1a1	UTSW	3	101,497,128 (GRCm39)	missense	probably damaging	0.96
R0724:Atp1a1	UTSW	3	101,499,755 (GRCm39)	missense	possibly damaging	0.50
R0826:Atp1a1	UTSW	3	101,492,169 (GRCm39)	missense	probably damaging	0.99
R1457:Atp1a1	UTSW	3	101,497,782 (GRCm39)	missense	probably damaging	1.00
R1732:Atp1a1	UTSW	3	101,492,115 (GRCm39)	missense	probably damaging	1.00
R1843:Atp1a1	UTSW	3	101,489,333 (GRCm39)	missense	probably benign	0.43
R2172:Atp1a1	UTSW	3	101,497,864 (GRCm39)	missense	probably benign
R3770:Atp1a1	UTSW	3	101,488,510 (GRCm39)	missense	probably benign	0.17
R3905:Atp1a1	UTSW	3	101,497,928 (GRCm39)	missense	probably benign	0.00
R4602:Atp1a1	UTSW	3	101,494,259 (GRCm39)	missense	probably benign	0.00
R4715:Atp1a1	UTSW	3	101,499,122 (GRCm39)	missense	possibly damaging	0.90
R4777:Atp1a1	UTSW	3	101,502,312 (GRCm39)	critical splice donor site	probably null
R4795:Atp1a1	UTSW	3	101,491,091 (GRCm39)	missense	probably benign	0.15
R5030:Atp1a1	UTSW	3	101,487,133 (GRCm39)	missense	probably benign	0.22
R5066:Atp1a1	UTSW	3	101,489,420 (GRCm39)	missense	probably damaging	0.98
R5165:Atp1a1	UTSW	3	101,489,105 (GRCm39)	missense	probably benign	0.01
R5297:Atp1a1	UTSW	3	101,498,443 (GRCm39)	missense	possibly damaging	0.82
R5307:Atp1a1	UTSW	3	101,497,280 (GRCm39)	missense	probably damaging	1.00
R5379:Atp1a1	UTSW	3	101,489,411 (GRCm39)	missense	probably benign	0.01
R5495:Atp1a1	UTSW	3	101,498,741 (GRCm39)	missense	probably benign	0.01
R5946:Atp1a1	UTSW	3	101,497,090 (GRCm39)	missense	probably benign	0.12
R6125:Atp1a1	UTSW	3	101,498,023 (GRCm39)	missense	probably damaging	1.00
R6789:Atp1a1	UTSW	3	101,493,614 (GRCm39)	missense	possibly damaging	0.71
R7339:Atp1a1	UTSW	3	101,497,188 (GRCm39)	missense	probably benign	0.44
R7552:Atp1a1	UTSW	3	101,489,437 (GRCm39)	nonsense	probably null
R7825:Atp1a1	UTSW	3	101,493,485 (GRCm39)	missense	probably benign	0.00
R8098:Atp1a1	UTSW	3	101,489,365 (GRCm39)	missense	probably damaging	0.97
R8175:Atp1a1	UTSW	3	101,492,170 (GRCm39)	missense	possibly damaging	0.79
R8281:Atp1a1	UTSW	3	101,486,940 (GRCm39)	missense	probably benign	0.12
R8403:Atp1a1	UTSW	3	101,494,220 (GRCm39)	missense	probably damaging	1.00
R8435:Atp1a1	UTSW	3	101,490,078 (GRCm39)	missense	probably benign
R8461:Atp1a1	UTSW	3	101,496,405 (GRCm39)	missense	probably benign	0.01
R8772:Atp1a1	UTSW	3	101,487,124 (GRCm39)	missense	probably benign
R8782:Atp1a1	UTSW	3	101,501,533 (GRCm39)	missense	possibly damaging	0.63
R8919:Atp1a1	UTSW	3	101,498,547 (GRCm39)	missense	probably damaging	1.00
R9066:Atp1a1	UTSW	3	101,489,338 (GRCm39)	missense	probably damaging	1.00
R9227:Atp1a1	UTSW	3	101,499,750 (GRCm39)	missense	probably damaging	1.00
R9712:Atp1a1	UTSW	3	101,498,757 (GRCm39)	missense	probably benign	0.06
X0019:Atp1a1	UTSW	3	101,501,529 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AACCTGAGTTTGGAATGTCTCTTC -3'
(R):5'- TGCCGTGTATGCTGAAGGAG -3'

Sequencing Primer
(F):5'- GAGTTTGGAATGTCTCTTCCTCTCG -3'
(R):5'- CCGTGTATGCTGAAGGAGGTGAG -3'

Posted On

2015-09-25