Incidental Mutation 'R8461:Atp1a1'
| ID |
655261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1a1
|
| Ensembl Gene |
ENSMUSG00000033161 |
| Gene Name |
ATPase, Na+/K+ transporting, alpha 1 polypeptide |
| Synonyms |
Atpa-1 |
| MMRRC Submission |
067837-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
101483535-101512000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101496405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 417
(T417S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036493
AA Change: T417S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: T417S
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| 4921539E11Rik |
T |
C |
4: 103,112,712 (GRCm39) |
D132G |
probably benign |
Het |
| Abca16 |
T |
C |
7: 120,035,918 (GRCm39) |
F334L |
possibly damaging |
Het |
| Ache |
T |
C |
5: 137,288,582 (GRCm39) |
F96S |
probably damaging |
Het |
| Actg1 |
T |
C |
11: 120,239,010 (GRCm39) |
T27A |
unknown |
Het |
| Ankrd27 |
T |
C |
7: 35,326,911 (GRCm39) |
L752P |
probably damaging |
Het |
| Atp6v0a1 |
T |
G |
11: 100,935,400 (GRCm39) |
L653R |
possibly damaging |
Het |
| Aurkb |
T |
C |
11: 68,941,727 (GRCm39) |
V293A |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 142,980,802 (GRCm39) |
D654E |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,001,440 (GRCm39) |
V297A |
possibly damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
| Ccdc187 |
A |
G |
2: 26,183,814 (GRCm39) |
L62P |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,783,522 (GRCm39) |
V69A |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 103,998,280 (GRCm39) |
V1156A |
possibly damaging |
Het |
| Defb37 |
G |
A |
8: 19,036,386 (GRCm39) |
H45Y |
unknown |
Het |
| Dgke |
T |
C |
11: 88,939,819 (GRCm39) |
M367V |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,027,915 (GRCm39) |
K640R |
probably benign |
Het |
| Gm5478 |
A |
T |
15: 101,554,652 (GRCm39) |
L148Q |
probably damaging |
Het |
| Hhla1 |
A |
T |
15: 65,795,723 (GRCm39) |
S494R |
probably benign |
Het |
| Kcne4 |
G |
A |
1: 78,795,433 (GRCm39) |
S27N |
probably benign |
Het |
| Klhdc7b |
A |
T |
15: 89,271,824 (GRCm39) |
H244L |
probably damaging |
Het |
| Lrrc40 |
T |
C |
3: 157,764,371 (GRCm39) |
S429P |
possibly damaging |
Het |
| Map3k21 |
A |
T |
8: 126,671,361 (GRCm39) |
D883V |
probably benign |
Het |
| Med4 |
T |
C |
14: 73,755,468 (GRCm39) |
S259P |
unknown |
Het |
| Mrm3 |
T |
C |
11: 76,135,158 (GRCm39) |
I123T |
probably damaging |
Het |
| Mrpl1 |
T |
A |
5: 96,361,646 (GRCm39) |
V11D |
probably damaging |
Het |
| Myl1 |
G |
A |
1: 66,983,994 (GRCm39) |
P24L |
unknown |
Het |
| Necap2 |
T |
C |
4: 140,797,531 (GRCm39) |
K168R |
probably damaging |
Het |
| Nnt |
A |
G |
13: 119,505,038 (GRCm39) |
S559P |
unknown |
Het |
| Nox4 |
T |
C |
7: 86,966,479 (GRCm39) |
F197L |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,007,963 (GRCm39) |
|
probably null |
Het |
| Nxph2 |
T |
C |
2: 23,211,529 (GRCm39) |
V10A |
unknown |
Het |
| Or1e16 |
T |
A |
11: 73,285,982 (GRCm39) |
I289F |
probably damaging |
Het |
| Or8c11 |
T |
A |
9: 38,289,777 (GRCm39) |
V194D |
probably damaging |
Het |
| Or8k38 |
G |
A |
2: 86,487,890 (GRCm39) |
T304I |
probably benign |
Het |
| P2ry2 |
G |
T |
7: 100,647,895 (GRCm39) |
R137S |
possibly damaging |
Het |
| Plxnb3 |
T |
C |
X: 72,803,103 (GRCm39) |
Y324H |
probably damaging |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Ppme1 |
T |
C |
7: 100,021,012 (GRCm39) |
S7G |
probably benign |
Het |
| Rabep1 |
T |
A |
11: 70,775,681 (GRCm39) |
M85K |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,312,216 (GRCm39) |
Y979H |
probably damaging |
Het |
| Rapgef5 |
T |
C |
12: 117,677,844 (GRCm39) |
S360P |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,592,970 (GRCm39) |
H623Q |
probably damaging |
Het |
| Rev1 |
G |
T |
1: 38,122,868 (GRCm39) |
T450K |
possibly damaging |
Het |
| Sec23ip |
T |
A |
7: 128,373,926 (GRCm39) |
L716Q |
probably benign |
Het |
| Sp2 |
T |
C |
11: 96,846,739 (GRCm39) |
T535A |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,011,463 (GRCm39) |
S61P |
probably benign |
Het |
| Tcf4 |
T |
C |
18: 69,598,501 (GRCm39) |
V72A |
probably benign |
Het |
| Tmem131 |
G |
A |
1: 36,833,902 (GRCm39) |
S1726F |
probably damaging |
Het |
| Trim13 |
T |
C |
14: 61,842,921 (GRCm39) |
Y313H |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,611,437 (GRCm39) |
V17365A |
possibly damaging |
Het |
| Uap1l1 |
G |
A |
2: 25,255,422 (GRCm39) |
A69V |
probably benign |
Het |
| Upp2 |
A |
G |
2: 58,670,068 (GRCm39) |
D258G |
probably benign |
Het |
| Vmn1r44 |
A |
T |
6: 89,870,701 (GRCm39) |
H149L |
possibly damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,358,453 (GRCm39) |
D600G |
probably benign |
Het |
| Zfp869 |
G |
T |
8: 70,160,305 (GRCm39) |
H89Q |
probably benign |
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 |
|
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 |
|
|
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'- CTGTTTGGAAAGCAAGGTGG -3'
(R):5'- CCACAGTCTGCATAGTGAGC -3'
Sequencing Primer
(F):5'- GGTGTTCTTATGTGCTAACCAC -3'
(R):5'- CAGTCTGCATAGTGAGCGAGTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation