Incidental Mutation 'IGL02934:Atp1a1'
| ID |
364246 |
| 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 # |
IGL02934
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
101576219-101604684 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 101576992 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 990
(C990*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036493
AA Change: C990*
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: C990*
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
T |
3: 122,162,359 (GRCm38) |
R716* |
probably null |
Het |
| Abca8a |
A |
T |
11: 110,040,588 (GRCm38) |
N1246K |
probably damaging |
Het |
| Acadl |
A |
G |
1: 66,836,975 (GRCm38) |
Y396H |
probably benign |
Het |
| Apol7c |
A |
T |
15: 77,526,118 (GRCm38) |
S209R |
possibly damaging |
Het |
| Cachd1 |
C |
T |
4: 100,968,098 (GRCm38) |
S583L |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 122,647,758 (GRCm38) |
T48A |
probably benign |
Het |
| Ccdc138 |
G |
T |
10: 58,573,580 (GRCm38) |
|
probably benign |
Het |
| Cenpe |
A |
G |
3: 135,264,351 (GRCm38) |
E2231G |
probably damaging |
Het |
| Cog3 |
T |
C |
14: 75,741,689 (GRCm38) |
I206V |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 195,154,325 (GRCm38) |
|
probably benign |
Het |
| Ctdspl2 |
T |
C |
2: 121,979,009 (GRCm38) |
V147A |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 32,929,871 (GRCm38) |
V300A |
probably damaging |
Het |
| Dkk3 |
A |
T |
7: 112,150,747 (GRCm38) |
M72K |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 107,023,745 (GRCm38) |
F340L |
probably benign |
Het |
| Fut1 |
A |
G |
7: 45,618,703 (GRCm38) |
H27R |
possibly damaging |
Het |
| Igkv4-80 |
A |
G |
6: 69,016,856 (GRCm38) |
V17A |
probably benign |
Het |
| Igkv9-123 |
G |
A |
6: 67,954,396 (GRCm38) |
P62L |
possibly damaging |
Het |
| Kmt2e |
T |
C |
5: 23,497,884 (GRCm38) |
S1021P |
probably damaging |
Het |
| Krt13 |
A |
C |
11: 100,119,084 (GRCm38) |
L320R |
probably damaging |
Het |
| Ldhal6b |
T |
C |
17: 5,417,544 (GRCm38) |
T372A |
probably benign |
Het |
| Manba |
T |
C |
3: 135,544,749 (GRCm38) |
V379A |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,435,131 (GRCm38) |
V361I |
probably benign |
Het |
| Map4k1 |
A |
G |
7: 28,994,106 (GRCm38) |
S399G |
probably benign |
Het |
| Mff |
G |
A |
1: 82,747,094 (GRCm38) |
R229H |
probably damaging |
Het |
| Naga |
T |
C |
15: 82,330,200 (GRCm38) |
N370S |
possibly damaging |
Het |
| Ncor2 |
A |
T |
5: 125,025,557 (GRCm38) |
M2045K |
probably benign |
Het |
| Nipal1 |
T |
C |
5: 72,647,907 (GRCm38) |
L7P |
probably damaging |
Het |
| Or10p22 |
T |
A |
10: 128,990,089 (GRCm38) |
M59K |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,640,727 (GRCm38) |
M187K |
probably benign |
Het |
| Perp |
A |
T |
10: 18,855,772 (GRCm38) |
T160S |
probably damaging |
Het |
| Rapgef6 |
G |
A |
11: 54,625,864 (GRCm38) |
D169N |
probably damaging |
Het |
| Sel1l |
G |
A |
12: 91,809,936 (GRCm38) |
Q711* |
probably null |
Het |
| Septin5 |
T |
C |
16: 18,629,831 (GRCm38) |
Y7C |
probably damaging |
Het |
| Spdya |
A |
T |
17: 71,556,400 (GRCm38) |
N48I |
probably benign |
Het |
| Stard6 |
T |
A |
18: 70,496,104 (GRCm38) |
|
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,375,992 (GRCm38) |
V396A |
probably benign |
Het |
| Tcaf3 |
T |
G |
6: 42,593,898 (GRCm38) |
M307L |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,627,887 (GRCm38) |
N757D |
probably benign |
Het |
| Tgm1 |
T |
A |
14: 55,709,989 (GRCm38) |
D305V |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,789,551 (GRCm38) |
M213L |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 77,597,820 (GRCm38) |
V347A |
probably damaging |
Het |
| Tmem214 |
A |
G |
5: 30,871,544 (GRCm38) |
E159G |
probably benign |
Het |
| Trim58 |
C |
T |
11: 58,640,466 (GRCm38) |
|
probably benign |
Het |
| Tshz1 |
A |
T |
18: 84,013,090 (GRCm38) |
S1064R |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 46,957,340 (GRCm38) |
E983K |
possibly damaging |
Het |
| Vmn1r23 |
A |
T |
6: 57,925,929 (GRCm38) |
I288N |
probably benign |
Het |
| Vmn2r97 |
T |
C |
17: 18,929,685 (GRCm38) |
V445A |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,416,105 (GRCm38) |
T813M |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,515,676 (GRCm38) |
H2754Y |
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 |
|
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 |
2015-12-18 |
Incidental Mutation