Incidental Mutation 'R9066:Atp1a1'
| ID |
689252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1a1
|
| Ensembl Gene |
ENSMUSG00000033161 |
| Gene Name |
ATPase, Na+/K+ transporting, alpha 1 polypeptide |
| Synonyms |
Atpa-1 |
| MMRRC Submission |
068891-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
101576219-101604684 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101582022 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 758
(I758T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036493
AA Change: I758T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: I758T
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (46/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210010C04Rik |
C |
T |
6: 41,031,706 (GRCm38) |
G225R |
probably benign |
Het |
| Abca7 |
A |
G |
10: 80,013,354 (GRCm38) |
T1858A |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,453,646 (GRCm38) |
E225G |
probably damaging |
Het |
| Clec7a |
A |
C |
6: 129,467,528 (GRCm38) |
S115A |
probably benign |
Het |
| Cnbd1 |
T |
C |
4: 19,098,181 (GRCm38) |
T80A |
probably benign |
Het |
| Ctu1 |
A |
G |
7: 43,676,595 (GRCm38) |
H226R |
possibly damaging |
Het |
| Dctn4 |
T |
C |
18: 60,526,315 (GRCm38) |
F29L |
probably damaging |
Het |
| Dnajb2 |
A |
G |
1: 75,241,230 (GRCm38) |
T169A |
|
Het |
| Esf1 |
A |
T |
2: 140,148,773 (GRCm38) |
M597K |
probably benign |
Het |
| Fam71e2 |
T |
C |
7: 4,770,519 (GRCm38) |
|
probably benign |
Het |
| Fzd7 |
C |
T |
1: 59,482,832 (GRCm38) |
|
probably benign |
Het |
| Gapvd1 |
C |
A |
2: 34,727,285 (GRCm38) |
Q349H |
probably damaging |
Het |
| Gata5 |
A |
G |
2: 180,326,968 (GRCm38) |
F371S |
|
Het |
| Gm11639 |
T |
A |
11: 104,740,862 (GRCm38) |
|
probably benign |
Het |
| Gm572 |
A |
T |
4: 148,666,821 (GRCm38) |
Q217L |
possibly damaging |
Het |
| Igkv14-130 |
T |
A |
6: 67,791,235 (GRCm38) |
M26K |
probably damaging |
Het |
| Jchain |
T |
G |
5: 88,527,779 (GRCm38) |
M1L |
probably benign |
Het |
| Kcnj14 |
G |
A |
7: 45,819,649 (GRCm38) |
T144M |
probably damaging |
Het |
| Kirrel2 |
C |
A |
7: 30,454,029 (GRCm38) |
A302S |
probably damaging |
Het |
| Klhl29 |
C |
T |
12: 5,210,114 (GRCm38) |
V35I |
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,927,795 (GRCm38) |
S1222F |
possibly damaging |
Het |
| Lgi4 |
A |
C |
7: 31,060,021 (GRCm38) |
M1L |
probably benign |
Het |
| Ncr1 |
A |
G |
7: 4,344,553 (GRCm38) |
D276G |
probably benign |
Het |
| Nfatc3 |
T |
A |
8: 106,099,150 (GRCm38) |
M619K |
probably benign |
Het |
| Nudcd1 |
A |
T |
15: 44,380,192 (GRCm38) |
F441I |
probably damaging |
Het |
| Nxt2 |
C |
T |
X: 142,237,751 (GRCm38) |
A118V |
possibly damaging |
Het |
| Olfr519 |
A |
T |
7: 108,894,046 (GRCm38) |
Y125* |
probably null |
Het |
| Olfr874 |
T |
G |
9: 37,746,575 (GRCm38) |
V147G |
possibly damaging |
Het |
| Pop1 |
A |
T |
15: 34,515,914 (GRCm38) |
Q586L |
possibly damaging |
Het |
| Rcbtb1 |
T |
G |
14: 59,224,757 (GRCm38) |
I279S |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,579,911 (GRCm38) |
|
probably benign |
Het |
| Serpine3 |
A |
G |
14: 62,692,106 (GRCm38) |
D401G |
probably damaging |
Het |
| Slc25a4 |
A |
G |
8: 46,209,078 (GRCm38) |
V181A |
probably damaging |
Het |
| Slc26a2 |
T |
G |
18: 61,202,058 (GRCm38) |
I108L |
probably benign |
Het |
| Slc27a5 |
A |
C |
7: 12,988,603 (GRCm38) |
V648G |
possibly damaging |
Het |
| Slc2a7 |
T |
C |
4: 150,166,415 (GRCm38) |
F431S |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,341,423 (GRCm38) |
H329R |
possibly damaging |
Het |
| Speg |
G |
A |
1: 75,385,010 (GRCm38) |
G223R |
probably damaging |
Het |
| Synpo2 |
G |
A |
3: 123,117,484 (GRCm38) |
H171Y |
possibly damaging |
Het |
| Tle6 |
G |
T |
10: 81,594,378 (GRCm38) |
N323K |
possibly damaging |
Het |
| Ugt3a2 |
A |
T |
15: 9,367,298 (GRCm38) |
M376L |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 116,066,735 (GRCm38) |
K798R |
probably benign |
Het |
| Vasp |
A |
T |
7: 19,264,508 (GRCm38) |
H80Q |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,488,597 (GRCm38) |
D217G |
probably damaging |
Het |
| Vps41 |
T |
C |
13: 18,823,848 (GRCm38) |
S284P |
probably damaging |
Het |
| Zer1 |
A |
C |
2: 30,110,674 (GRCm38) |
L245R |
probably damaging |
Het |
| Zfp516 |
G |
T |
18: 82,955,839 (GRCm38) |
R54L |
probably damaging |
Het |
| Zfp868 |
T |
C |
8: 69,611,641 (GRCm38) |
K348E |
probably damaging |
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 |
|
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 |
|
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'- TGCAGAGGATGGTCACAGTC -3'
(R):5'- CATCCCTGCAAAGATTTGGGC -3'
Sequencing Primer
(F):5'- TATCAAGAAGGGGGTGATTTCC -3'
(R):5'- CAAAGATTTGGGCTTTATTAACCCCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation