Incidental Mutation 'IGL02021:Atp1a1'
| ID |
183968 |
| 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 |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02021
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
101576219-101604684 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101594208 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 60
(S60G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036493
AA Change: S60G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: S60G
| 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: ENSMUST00000200347
|
| 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 |
|---|
| 1110002L01Rik |
G |
A |
12: 3,407,890 (GRCm38) |
|
probably benign |
Het |
| Adam10 |
C |
T |
9: 70,743,909 (GRCm38) |
T72I |
possibly damaging |
Het |
| Adam26b |
T |
A |
8: 43,519,872 (GRCm38) |
M698L |
probably benign |
Het |
| Ankrd27 |
A |
T |
7: 35,614,456 (GRCm38) |
H404L |
probably damaging |
Het |
| Bcat1 |
T |
C |
6: 145,047,289 (GRCm38) |
|
probably benign |
Het |
| Cd177 |
G |
A |
7: 24,745,206 (GRCm38) |
A650V |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,094,549 (GRCm38) |
N1344D |
probably benign |
Het |
| Ctsd |
G |
T |
7: 142,385,476 (GRCm38) |
L71I |
probably damaging |
Het |
| Dctn2 |
T |
C |
10: 127,275,057 (GRCm38) |
|
probably null |
Het |
| Ddr1 |
G |
A |
17: 35,683,480 (GRCm38) |
A801V |
probably damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,304,646 (GRCm38) |
F251S |
probably benign |
Het |
| Fcho1 |
A |
C |
8: 71,721,275 (GRCm38) |
S2A |
probably benign |
Het |
| Gm4861 |
T |
C |
3: 137,552,110 (GRCm38) |
|
probably null |
Het |
| Gm4922 |
C |
A |
10: 18,784,477 (GRCm38) |
G166W |
probably damaging |
Het |
| Hic2 |
A |
G |
16: 17,258,753 (GRCm38) |
E482G |
probably benign |
Het |
| Hoxa5 |
C |
T |
6: 52,202,657 (GRCm38) |
R246K |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 106,857,237 (GRCm38) |
F721I |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 67,821,626 (GRCm38) |
S2993C |
probably damaging |
Het |
| Lonp2 |
T |
A |
8: 86,708,971 (GRCm38) |
S612T |
probably benign |
Het |
| Lpar5 |
T |
G |
6: 125,081,992 (GRCm38) |
Y225* |
probably null |
Het |
| Map4k3 |
A |
G |
17: 80,609,826 (GRCm38) |
Y574H |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,163 (GRCm38) |
E296G |
probably damaging |
Het |
| Ncs1 |
A |
G |
2: 31,284,165 (GRCm38) |
D109G |
probably damaging |
Het |
| Nnt |
T |
C |
13: 119,336,247 (GRCm38) |
|
probably benign |
Het |
| Nr1h5 |
T |
C |
3: 102,947,742 (GRCm38) |
|
probably benign |
Het |
| Olfr1288 |
A |
G |
2: 111,479,480 (GRCm38) |
D232G |
probably benign |
Het |
| Olfr704 |
A |
T |
7: 106,865,489 (GRCm38) |
K170* |
probably null |
Het |
| Plk4 |
A |
G |
3: 40,810,708 (GRCm38) |
D595G |
probably damaging |
Het |
| Rbm17 |
C |
A |
2: 11,595,438 (GRCm38) |
|
probably benign |
Het |
| Slc24a3 |
T |
A |
2: 145,518,916 (GRCm38) |
I193N |
probably damaging |
Het |
| St5 |
T |
C |
7: 109,557,372 (GRCm38) |
Y57C |
probably damaging |
Het |
| Stat5a |
G |
T |
11: 100,883,889 (GRCm38) |
V759F |
probably damaging |
Het |
| Tgfbi |
T |
A |
13: 56,631,353 (GRCm38) |
L463Q |
probably damaging |
Het |
| Tigar |
G |
T |
6: 127,089,290 (GRCm38) |
A95E |
probably damaging |
Het |
| Tph1 |
A |
G |
7: 46,656,997 (GRCm38) |
I180T |
possibly damaging |
Het |
| Usp22 |
T |
A |
11: 61,154,499 (GRCm38) |
Y517F |
probably damaging |
Het |
| Vmn2r105 |
A |
C |
17: 20,227,895 (GRCm38) |
I222M |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,722,336 (GRCm38) |
I582V |
probably benign |
Het |
| Zfp217 |
A |
G |
2: 170,115,149 (GRCm38) |
V643A |
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 |
|
|
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 |
|
PIT4453001:Atp1a1
|
UTSW |
3 |
101,581,179 (GRCm38) |
missense |
probably benign |
0.01 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation