Incidental Mutation 'R0826:Atp1a1'
| ID |
78215 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1a1
|
| Ensembl Gene |
ENSMUSG00000033161 |
| Gene Name |
ATPase, Na+/K+ transporting, alpha 1 polypeptide |
| Synonyms |
Atpa-1 |
| MMRRC Submission |
039006-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0826 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
101483535-101512000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101492169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 569
(F569S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036493
AA Change: F569S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: F569S
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197360
|
| Meta Mutation Damage Score |
0.7433 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.6%
- 10x: 95.7%
- 20x: 86.3%
|
| Validation Efficiency |
100% (69/69) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| 4931406C07Rik |
T |
C |
9: 15,203,292 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
T |
A |
13: 70,916,811 (GRCm39) |
D727V |
possibly damaging |
Het |
| Anxa10 |
A |
C |
8: 62,529,318 (GRCm39) |
L133* |
probably null |
Het |
| Arfgef3 |
G |
A |
10: 18,465,414 (GRCm39) |
T2143I |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,579,950 (GRCm39) |
T333A |
probably benign |
Het |
| Arhgef40 |
A |
G |
14: 52,238,450 (GRCm39) |
T1310A |
probably benign |
Het |
| Atg10 |
C |
T |
13: 91,084,705 (GRCm39) |
|
probably null |
Het |
| Baiap3 |
A |
G |
17: 25,464,203 (GRCm39) |
W849R |
possibly damaging |
Het |
| Baz1a |
A |
T |
12: 54,977,097 (GRCm39) |
Y9* |
probably null |
Het |
| Catsperg2 |
C |
T |
7: 29,405,049 (GRCm39) |
D702N |
possibly damaging |
Het |
| Clasrp |
G |
T |
7: 19,318,226 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Col19a1 |
T |
C |
1: 24,565,467 (GRCm39) |
K288R |
unknown |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
A |
G |
6: 18,405,177 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
T |
A |
14: 31,025,864 (GRCm39) |
I828F |
probably benign |
Het |
| Dpf2 |
G |
T |
19: 5,957,155 (GRCm39) |
Q23K |
probably damaging |
Het |
| Dsc3 |
T |
A |
18: 20,114,229 (GRCm39) |
I342F |
probably damaging |
Het |
| Enpp3 |
A |
G |
10: 24,671,614 (GRCm39) |
L460P |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,380,090 (GRCm39) |
E871G |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,040,780 (GRCm39) |
|
probably null |
Het |
| Fam243 |
G |
A |
16: 92,118,075 (GRCm39) |
S71L |
probably benign |
Het |
| Fpr-rs7 |
A |
T |
17: 20,333,888 (GRCm39) |
S201T |
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,245,797 (GRCm39) |
F685S |
probably damaging |
Het |
| Helz2 |
C |
T |
2: 180,882,646 (GRCm39) |
R49H |
possibly damaging |
Het |
| Ica1 |
A |
G |
6: 8,667,375 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
A |
G |
6: 38,402,049 (GRCm39) |
|
probably null |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kif21a |
A |
G |
15: 90,881,744 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
T |
A |
1: 193,013,216 (GRCm39) |
C480* |
probably null |
Het |
| Lamc2 |
A |
G |
1: 153,027,828 (GRCm39) |
S199P |
probably damaging |
Het |
| Lrfn3 |
T |
C |
7: 30,059,676 (GRCm39) |
N183S |
probably benign |
Het |
| Lsm14a |
C |
A |
7: 34,070,470 (GRCm39) |
|
probably benign |
Het |
| Mest |
C |
A |
6: 30,742,813 (GRCm39) |
H146Q |
probably damaging |
Het |
| Mmp27 |
T |
C |
9: 7,579,010 (GRCm39) |
V339A |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,426,285 (GRCm39) |
|
probably benign |
Het |
| Myoz1 |
C |
T |
14: 20,703,679 (GRCm39) |
|
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,117,133 (GRCm39) |
M286V |
probably benign |
Het |
| Optc |
T |
C |
1: 133,832,893 (GRCm39) |
K69R |
probably benign |
Het |
| Or13c3 |
C |
T |
4: 52,855,566 (GRCm39) |
V316I |
probably benign |
Het |
| Or2y1c |
A |
T |
11: 49,361,158 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or4a77 |
A |
C |
2: 89,487,181 (GRCm39) |
N201K |
possibly damaging |
Het |
| Or8g18 |
C |
T |
9: 39,149,725 (GRCm39) |
M1I |
probably null |
Het |
| Osbpl3 |
A |
T |
6: 50,323,357 (GRCm39) |
M242K |
probably damaging |
Het |
| Pdzd9 |
T |
A |
7: 120,267,624 (GRCm39) |
S64C |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,245,672 (GRCm39) |
S859P |
possibly damaging |
Het |
| Ppp1r12a |
G |
T |
10: 108,066,414 (GRCm39) |
A202S |
possibly damaging |
Het |
| Rab32 |
A |
T |
10: 10,426,611 (GRCm39) |
F112I |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,267,253 (GRCm39) |
Y394C |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,445,245 (GRCm39) |
|
probably benign |
Het |
| Sbk1 |
C |
T |
7: 125,891,007 (GRCm39) |
P147L |
probably damaging |
Het |
| Shpk |
T |
A |
11: 73,094,857 (GRCm39) |
M91K |
probably damaging |
Het |
| Slco6c1 |
C |
T |
1: 97,055,826 (GRCm39) |
S25N |
probably benign |
Het |
| Snx2 |
A |
T |
18: 53,327,594 (GRCm39) |
T107S |
probably benign |
Het |
| Tle2 |
G |
A |
10: 81,422,148 (GRCm39) |
V397I |
possibly damaging |
Het |
| Tmem131l |
T |
C |
3: 83,805,724 (GRCm39) |
D1573G |
probably damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,011,708 (GRCm39) |
|
probably benign |
Het |
| Tpmt |
T |
C |
13: 47,194,965 (GRCm39) |
E36G |
probably benign |
Het |
| Trim30c |
T |
A |
7: 104,032,688 (GRCm39) |
T257S |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,815,932 (GRCm39) |
L150P |
probably benign |
Het |
| Upf3a |
G |
C |
8: 13,848,338 (GRCm39) |
G378A |
possibly damaging |
Het |
| Yeats2 |
A |
T |
16: 20,011,966 (GRCm39) |
K514* |
probably null |
Het |
| Zfp11 |
A |
G |
5: 129,734,589 (GRCm39) |
Y291H |
probably benign |
Het |
| Zfp457 |
T |
C |
13: 67,441,378 (GRCm39) |
D399G |
possibly 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 |
|
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 |
|
|
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'- TCAGCTCACAACACGGGGAATG -3'
(R):5'- TGGAGAAGTCTGTCTTCCAGCCAC -3'
Sequencing Primer
(F):5'- AAGTAAGGTGCTTCCTTGCC -3'
(R):5'- TGTCTTCCAGCCACTCTTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation