Incidental Mutation 'R5946:Atp1a1'
| ID |
472155 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5946 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
101483535-101512000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101497090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 405
(N405K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036493
AA Change: N405K
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: N405K
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,571,678 (GRCm39) |
F1137S |
probably damaging |
Het |
| Actr6 |
G |
T |
10: 89,564,054 (GRCm39) |
Q73K |
probably benign |
Het |
| Adamtsl3 |
G |
A |
7: 82,225,265 (GRCm39) |
G358D |
probably damaging |
Het |
| Aggf1 |
A |
G |
13: 95,508,084 (GRCm39) |
V94A |
probably damaging |
Het |
| Arpc3 |
A |
G |
5: 122,541,459 (GRCm39) |
Y57C |
probably damaging |
Het |
| Asb2 |
A |
G |
12: 103,287,814 (GRCm39) |
Y630H |
probably benign |
Het |
| C6 |
G |
T |
15: 4,837,996 (GRCm39) |
D869Y |
possibly damaging |
Het |
| Cds2 |
A |
G |
2: 132,139,168 (GRCm39) |
Y137C |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 17,803,131 (GRCm39) |
E179V |
probably damaging |
Het |
| Chgb |
T |
A |
2: 132,634,516 (GRCm39) |
Y153N |
probably benign |
Het |
| Cit |
T |
A |
5: 116,135,593 (GRCm39) |
L1831Q |
probably damaging |
Het |
| Cpne8 |
C |
A |
15: 90,373,191 (GRCm39) |
*578L |
probably null |
Het |
| Cspg5 |
A |
G |
9: 110,080,151 (GRCm39) |
T440A |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,598,467 (GRCm39) |
V1393G |
probably damaging |
Het |
| Dnajb8 |
A |
G |
6: 88,199,575 (GRCm39) |
D37G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,213,273 (GRCm39) |
I1063M |
probably benign |
Het |
| Efs |
T |
G |
14: 55,156,951 (GRCm39) |
|
probably null |
Het |
| Gpatch1 |
A |
G |
7: 34,991,257 (GRCm39) |
S596P |
probably damaging |
Het |
| Hbs1l |
C |
A |
10: 21,217,655 (GRCm39) |
H190Q |
probably benign |
Het |
| Ighm |
A |
G |
12: 113,386,329 (GRCm39) |
V7A |
unknown |
Het |
| Ivd |
A |
T |
2: 118,707,370 (GRCm39) |
I295F |
possibly damaging |
Het |
| Kcnq5 |
A |
C |
1: 21,575,931 (GRCm39) |
S258A |
probably damaging |
Het |
| Mad1l1 |
G |
T |
5: 140,247,334 (GRCm39) |
P331Q |
probably damaging |
Het |
| Mcf2l |
G |
T |
8: 13,063,922 (GRCm39) |
G1045C |
probably damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,558,701 (GRCm39) |
I233N |
probably damaging |
Het |
| Mmp13 |
T |
C |
9: 7,276,580 (GRCm39) |
L225P |
probably damaging |
Het |
| Muc5ac |
G |
A |
7: 141,371,644 (GRCm39) |
C2615Y |
possibly damaging |
Het |
| Myh7b |
T |
C |
2: 155,463,315 (GRCm39) |
F516L |
probably damaging |
Het |
| Obsl1 |
A |
T |
1: 75,467,851 (GRCm39) |
S1347R |
probably damaging |
Het |
| Ogn |
A |
G |
13: 49,771,761 (GRCm39) |
N207S |
probably benign |
Het |
| Or2h15 |
C |
A |
17: 38,441,598 (GRCm39) |
A162S |
probably benign |
Het |
| Or8b12 |
T |
A |
9: 37,658,330 (GRCm39) |
L300Q |
probably damaging |
Het |
| Pcdha2 |
G |
T |
18: 37,074,159 (GRCm39) |
V597L |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,217,897 (GRCm39) |
Y2126F |
possibly damaging |
Het |
| Pgbd5 |
A |
T |
8: 125,101,056 (GRCm39) |
M400K |
possibly damaging |
Het |
| Pklr |
A |
T |
3: 89,043,503 (GRCm39) |
E5V |
probably benign |
Het |
| Pkp4 |
T |
A |
2: 59,135,411 (GRCm39) |
D94E |
probably benign |
Het |
| Ppan |
C |
T |
9: 20,800,969 (GRCm39) |
Q111* |
probably null |
Het |
| Prkcb |
A |
G |
7: 122,143,926 (GRCm39) |
N330S |
probably benign |
Het |
| Prl4a1 |
T |
A |
13: 28,202,499 (GRCm39) |
W25R |
probably damaging |
Het |
| Rars2 |
T |
A |
4: 34,656,855 (GRCm39) |
H501Q |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,741,839 (GRCm39) |
D2114G |
probably damaging |
Het |
| Serinc2 |
G |
T |
4: 130,149,314 (GRCm39) |
T351K |
possibly damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,587,881 (GRCm39) |
F358L |
probably damaging |
Het |
| Sorcs2 |
A |
C |
5: 36,186,427 (GRCm39) |
V905G |
probably damaging |
Het |
| Tekt3 |
G |
C |
11: 62,985,573 (GRCm39) |
A460P |
probably damaging |
Het |
| Tm4sf1 |
T |
G |
3: 57,200,289 (GRCm39) |
I109L |
possibly damaging |
Het |
| Tmc5 |
A |
T |
7: 118,269,948 (GRCm39) |
E899D |
probably damaging |
Het |
| Tmem268 |
C |
T |
4: 63,486,746 (GRCm39) |
P90S |
probably damaging |
Het |
| Trim38 |
A |
G |
13: 23,966,717 (GRCm39) |
M55V |
probably benign |
Het |
| Trip10 |
T |
G |
17: 57,557,963 (GRCm39) |
V50G |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,911,942 (GRCm39) |
C990* |
probably null |
Het |
| Uts2 |
A |
G |
4: 151,083,506 (GRCm39) |
D39G |
probably benign |
Het |
| Vezf1 |
T |
A |
11: 87,964,560 (GRCm39) |
C49* |
probably null |
Het |
| Wee2 |
T |
A |
6: 40,440,146 (GRCm39) |
N431K |
probably null |
Het |
| Yeats2 |
C |
A |
16: 20,026,513 (GRCm39) |
Y796* |
probably null |
Het |
| Zfp592 |
G |
A |
7: 80,687,645 (GRCm39) |
G890D |
possibly damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably 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 |
|
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 |
|
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'- AACCAAAACAGTGTCATGGGC -3'
(R):5'- TCTGACACTCACTGCCAAGC -3'
Sequencing Primer
(F):5'- ACAGTGTCATGGGCTTAAAAAC -3'
(R):5'- AGACAAGACGGGAACTCT -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation