Incidental Mutation 'R7825:Atp1a1'
| ID |
602118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1a1
|
| Ensembl Gene |
ENSMUSG00000033161 |
| Gene Name |
ATPase, Na+/K+ transporting, alpha 1 polypeptide |
| Synonyms |
Atpa-1 |
| MMRRC Submission |
045879-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7825 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
101576219-101604684 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101586169 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 540
(N540D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036493
AA Change: N540D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: N540D
| 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 |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
C |
T |
4: 137,455,343 (GRCm38) |
R270C |
probably damaging |
Het |
| Adprhl2 |
C |
A |
4: 126,321,696 (GRCm38) |
|
probably benign |
Het |
| Akp3 |
TCACCACCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCACCACCAC |
1: 87,127,767 (GRCm38) |
|
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,767,761 (GRCm38) |
H89R |
probably damaging |
Het |
| Cd38 |
A |
T |
5: 43,901,455 (GRCm38) |
H137L |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,545,393 (GRCm38) |
V3A |
probably benign |
Het |
| Cmya5 |
G |
T |
13: 93,097,628 (GRCm38) |
H317Q |
possibly damaging |
Het |
| Cpeb2 |
A |
T |
5: 43,237,539 (GRCm38) |
D95V |
probably damaging |
Het |
| Cyp2f2 |
G |
A |
7: 27,129,253 (GRCm38) |
V183I |
probably benign |
Het |
| Dcst1 |
A |
G |
3: 89,352,821 (GRCm38) |
L572P |
possibly damaging |
Het |
| Eif3e |
A |
C |
15: 43,266,271 (GRCm38) |
|
probably null |
Het |
| Ephb4 |
T |
C |
5: 137,372,437 (GRCm38) |
S911P |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,283,847 (GRCm38) |
T157A |
not run |
Het |
| Gnmt |
T |
C |
17: 46,729,093 (GRCm38) |
D20G |
probably damaging |
Het |
| Gpatch8 |
A |
C |
11: 102,481,442 (GRCm38) |
D423E |
unknown |
Het |
| Gtf3c2 |
T |
C |
5: 31,158,371 (GRCm38) |
H790R |
probably damaging |
Het |
| Hepacam |
T |
C |
9: 37,384,768 (GRCm38) |
I405T |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,558,849 (GRCm38) |
V3574E |
probably damaging |
Het |
| Ifi202b |
A |
C |
1: 173,975,050 (GRCm38) |
F73V |
probably damaging |
Het |
| Kcnb1 |
A |
T |
2: 167,105,972 (GRCm38) |
S319T |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,248,634 (GRCm38) |
D86V |
unknown |
Het |
| Krt76 |
T |
A |
15: 101,887,503 (GRCm38) |
T411S |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,303,712 (GRCm38) |
D1583V |
possibly damaging |
Het |
| Nav1 |
A |
T |
1: 135,450,044 (GRCm38) |
V1689D |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,037,077 (GRCm38) |
T611A |
possibly damaging |
Het |
| Nipbl |
T |
A |
15: 8,291,487 (GRCm38) |
Y2712F |
probably damaging |
Het |
| Ntng2 |
T |
A |
2: 29,204,078 (GRCm38) |
H427L |
probably benign |
Het |
| Pcdhga4 |
T |
A |
18: 37,687,321 (GRCm38) |
L641Q |
probably damaging |
Het |
| Phc1 |
T |
C |
6: 122,322,381 (GRCm38) |
K623R |
probably benign |
Het |
| Polr1b |
C |
A |
2: 129,125,544 (GRCm38) |
F952L |
probably damaging |
Het |
| Prcc |
T |
A |
3: 87,869,745 (GRCm38) |
E307D |
possibly damaging |
Het |
| Prss27 |
T |
C |
17: 24,042,958 (GRCm38) |
F80S |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,579,909 (GRCm38) |
|
probably benign |
Het |
| Serpina11 |
T |
C |
12: 103,984,577 (GRCm38) |
Q295R |
probably benign |
Het |
| Sgk2 |
G |
T |
2: 163,006,881 (GRCm38) |
V284L |
possibly damaging |
Het |
| Slc15a2 |
C |
T |
16: 36,753,034 (GRCm38) |
V603I |
possibly damaging |
Het |
| Smpd3 |
A |
C |
8: 106,255,622 (GRCm38) |
C617G |
probably benign |
Het |
| Stat1 |
A |
G |
1: 52,151,308 (GRCm38) |
H574R |
probably damaging |
Het |
| Ston1 |
T |
C |
17: 88,636,453 (GRCm38) |
V429A |
possibly damaging |
Het |
| Tep1 |
T |
C |
14: 50,843,887 (GRCm38) |
|
probably null |
Het |
| Tesk1 |
A |
C |
4: 43,447,143 (GRCm38) |
R510S |
probably damaging |
Het |
| Themis |
A |
G |
10: 28,782,474 (GRCm38) |
E499G |
probably benign |
Het |
| Thra |
G |
A |
11: 98,762,948 (GRCm38) |
V202I |
probably benign |
Het |
| Tiam1 |
A |
T |
16: 89,898,089 (GRCm38) |
M160K |
probably benign |
Het |
| Tmc1 |
T |
C |
19: 20,804,645 (GRCm38) |
I570V |
possibly damaging |
Het |
| Treml1 |
C |
A |
17: 48,366,756 (GRCm38) |
P270Q |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,216,146 (GRCm38) |
N78S |
probably damaging |
Het |
| Ttll3 |
AAGTA |
AAGTAGAGTA |
6: 113,399,159 (GRCm38) |
|
probably null |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,399,157 (GRCm38) |
|
probably null |
Het |
| Ube3b |
T |
A |
5: 114,401,312 (GRCm38) |
L388Q |
probably damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,001,359 (GRCm38) |
C156* |
probably null |
Het |
| Vmn1r35 |
A |
T |
6: 66,679,459 (GRCm38) |
C76S |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 47,990,162 (GRCm38) |
L12P |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,179,920 (GRCm38) |
E668G |
probably benign |
Het |
| Zfp40 |
T |
C |
17: 23,176,327 (GRCm38) |
T429A |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAAAATGATCATTATTGCCCCAC -3'
(R):5'- TGCAGCCACCTAATGTTTCC -3'
Sequencing Primer
(F):5'- GATCATTATTGCCCCACCAACTATTG -3'
(R):5'- GCAGCCACCTAATGTTTCCTTCTG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation