Mutagenetix > Incidental Mutation

Incidental Mutation 'R1457:Atp1a1'

158549

Institutional Source

Beutler Lab

Gene Symbol

Atp1a1

Ensembl Gene

ENSMUSG00000033161

Gene Name

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

Synonyms

Atpa-1

MMRRC Submission

039512-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1457 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

101483535-101512000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101497782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 335 (G335D)

Ref Sequence

ENSEMBL: ENSMUSP00000039657 (fasta)

Gene Model

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

AlphaFold

Q8VDN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000036493
AA Change: G335D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: G335D

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: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.3%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,888,683 (GRCm39)	I1210F	probably benign	Het
Ankrd17	T	C	5: 90,433,705 (GRCm39)	H688R	possibly damaging	Het
Arhgap24	T	A	5: 102,811,972 (GRCm39)	N66K	probably damaging	Het
Cacna1g	C	T	11: 94,350,381 (GRCm39)	R488H	possibly damaging	Het
Cacna1h	A	T	17: 25,616,594 (GRCm39)	V149E	probably damaging	Het
Cd22	G	T	7: 30,572,595 (GRCm39)	P338Q	probably benign	Het
Cntln	G	T	4: 85,015,076 (GRCm39)	M1122I	probably benign	Het
Cntrl	A	G	2: 35,012,768 (GRCm39)	N302S	probably benign	Het
Cog8	T	C	8: 107,779,528 (GRCm39)	R250G	probably damaging	Het
Cracdl	A	T	1: 37,665,093 (GRCm39)	Y268*	probably null	Het
Creld2	T	C	15: 88,707,956 (GRCm39)	C232R	probably damaging	Het
Cyp2b23	G	A	7: 26,372,574 (GRCm39)	P347L	probably damaging	Het
Dnah5	T	C	15: 28,403,688 (GRCm39)		probably null	Het
Eml6	C	T	11: 29,974,459 (GRCm39)	V40I	probably damaging	Het
Epb42	C	T	2: 120,860,448 (GRCm39)		probably null	Het
Fcrla	A	G	1: 170,748,573 (GRCm39)	L190P	probably damaging	Het
Galnt18	A	T	7: 111,378,635 (GRCm39)	Y40*	probably null	Het
Gdf7	A	T	12: 8,348,073 (GRCm39)	M416K	probably damaging	Het
Gm11232	T	A	4: 71,675,156 (GRCm39)		probably null	Het
Gpam	T	A	19: 55,076,608 (GRCm39)	N198Y	probably damaging	Het
Grip1	C	T	10: 119,822,255 (GRCm39)	S327F	possibly damaging	Het
Hey2	C	T	10: 30,710,352 (GRCm39)	A134T	probably benign	Het
Kat6a	T	C	8: 23,428,668 (GRCm39)	I1341T	probably benign	Het
Kcnd3	T	C	3: 105,575,502 (GRCm39)	L542P	probably benign	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lman2	T	C	13: 55,499,064 (GRCm39)	D234G	probably benign	Het
Map3k19	A	C	1: 127,745,635 (GRCm39)	I1273R	probably damaging	Het
Matn1	T	A	4: 130,677,330 (GRCm39)	F180I	possibly damaging	Het
Meikin	T	A	11: 54,261,767 (GRCm39)	L61*	probably null	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Myh13	T	C	11: 67,221,872 (GRCm39)	I199T	probably damaging	Het
Myh4	T	A	11: 67,139,287 (GRCm39)	S535T	probably damaging	Het
Myo5a	T	C	9: 75,120,347 (GRCm39)	M1715T	probably damaging	Het
Nat8	A	T	6: 85,807,971 (GRCm39)	V54D	probably damaging	Het
Nbea	A	G	3: 55,992,748 (GRCm39)	V286A	probably damaging	Het
Ndnf	A	G	6: 65,680,998 (GRCm39)	K426E	possibly damaging	Het
Nup210l	T	A	3: 90,098,279 (GRCm39)	N1410K	possibly damaging	Het
Oca2	A	T	7: 55,971,269 (GRCm39)	T399S	probably damaging	Het
Or10al2	A	T	17: 37,983,816 (GRCm39)	K301*	probably null	Het
Or1af1	A	C	2: 37,109,671 (GRCm39)	T57P	possibly damaging	Het
Or51a43	A	T	7: 103,717,666 (GRCm39)	C191S	probably damaging	Het
Or52h7	T	A	7: 104,214,278 (GRCm39)	N283K	probably damaging	Het
Or8c10	G	A	9: 38,279,492 (GRCm39)	V217I	probably benign	Het
Or8j3	A	G	2: 86,028,596 (GRCm39)	S167P	probably damaging	Het
Otogl	A	C	10: 107,714,013 (GRCm39)		probably null	Het
Pde4b	C	T	4: 102,462,373 (GRCm39)	T511I	probably damaging	Het
Proser3	A	G	7: 30,239,172 (GRCm39)		probably null	Het
Psmd12	G	A	11: 107,370,472 (GRCm39)	V24M	probably damaging	Het
Rbm17	A	T	2: 11,598,272 (GRCm39)	M170K	probably benign	Het
Rims2	C	T	15: 39,374,710 (GRCm39)	T1064I	possibly damaging	Het
Ripor3	C	T	2: 167,834,573 (GRCm39)	V281M	probably damaging	Het
Rreb1	C	A	13: 38,130,904 (GRCm39)	Q1353K	possibly damaging	Het
Sgo2a	A	G	1: 58,054,965 (GRCm39)	D383G	probably benign	Het
Sik3	C	T	9: 46,132,446 (GRCm39)	T1346M	probably damaging	Het
Slx1b	A	T	7: 126,291,968 (GRCm39)	V63E	probably damaging	Het
Son	A	G	16: 91,453,974 (GRCm39)	D907G	probably damaging	Het
Src	G	A	2: 157,311,132 (GRCm39)	V401M	probably damaging	Het
St3gal4	T	C	9: 34,966,053 (GRCm39)	K24E	possibly damaging	Het
Stat6	A	G	10: 127,494,114 (GRCm39)	K647R	probably damaging	Het
Tbl1xr1	G	A	3: 22,247,333 (GRCm39)		probably null	Het
Tlk2	G	A	11: 105,147,778 (GRCm39)		probably null	Het
Tmbim6	T	A	15: 99,299,496 (GRCm39)	I3K	probably benign	Het
Tmeff2	A	T	1: 51,221,026 (GRCm39)	I334F	probably damaging	Het
Ttn	T	C	2: 76,670,659 (GRCm39)		probably null	Het
Ubl7	T	A	9: 57,821,894 (GRCm39)	I81N	probably damaging	Het
Ugt1a10	A	G	1: 87,983,433 (GRCm39)	Y77C	probably damaging	Het
Uqcrfs1	A	G	13: 30,724,890 (GRCm39)	C217R	probably damaging	Het
Usp50	T	C	2: 126,603,554 (GRCm39)	T331A	probably benign	Het
Vmn1r65	A	G	7: 6,012,156 (GRCm39)	V26A	probably benign	Het
Wdfy3	A	C	5: 102,065,445 (GRCm39)	V1241G	possibly damaging	Het
Wtap	A	C	17: 13,200,631 (GRCm39)		probably null	Het
Zbtb40	C	A	4: 136,712,148 (GRCm39)	A1187S	possibly damaging	Het
Zfp57	T	C	17: 37,316,990 (GRCm39)	S20P	probably damaging	Het
Zfp592	A	G	7: 80,674,227 (GRCm39)	D397G	probably damaging	Het
Zfp747	A	T	7: 126,973,676 (GRCm39)	S165T	probably benign	Het
Zfp949	C	T	9: 88,451,891 (GRCm39)	T487I	probably damaging	Het
Zscan4d	A	G	7: 10,898,921 (GRCm39)	C119R	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
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
R4611: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'- CATGTGATGTGGAATCAAAGACTGCAC -3'
(R):5'- GAAACCAAGCACATTTTCTGGCCTC -3'

Sequencing Primer
(F):5'- TGCACAGAAATAAATATAGACGTTGG -3'
(R):5'- TGATGGGCAGGATTGCCAC -3'

Posted On

2014-03-14