Incidental Mutation 'R5495:Atp1a1'
| ID |
432281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1a1
|
| Ensembl Gene |
ENSMUSG00000033161 |
| Gene Name |
ATPase, Na+/K+ transporting, alpha 1 polypeptide |
| Synonyms |
Atpa-1 |
| MMRRC Submission |
043056-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5495 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
101576219-101604684 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 101591425 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 184
(D184A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036493
AA Change: D184A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: D184A
| 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: ENSMUST00000200347
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
T |
C |
7: 27,636,169 (GRCm38) |
|
probably null |
Het |
| Arhgap29 |
T |
G |
3: 122,014,929 (GRCm38) |
M844R |
probably damaging |
Het |
| Bcl11a |
T |
A |
11: 24,165,042 (GRCm38) |
V795E |
possibly damaging |
Het |
| Casp12 |
T |
A |
9: 5,353,797 (GRCm38) |
I277N |
possibly damaging |
Het |
| Ccdc59 |
A |
G |
10: 105,845,378 (GRCm38) |
K164E |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,220,511 (GRCm38) |
G30S |
possibly damaging |
Het |
| Dgkd |
A |
G |
1: 87,926,872 (GRCm38) |
D632G |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,815,409 (GRCm38) |
K56E |
possibly damaging |
Het |
| Egflam |
T |
A |
15: 7,251,241 (GRCm38) |
R434S |
probably damaging |
Het |
| Fancl |
C |
G |
11: 26,397,801 (GRCm38) |
A51G |
probably damaging |
Het |
| Fkbp7 |
T |
C |
2: 76,663,294 (GRCm38) |
Y185C |
probably damaging |
Het |
| Galc |
A |
G |
12: 98,231,414 (GRCm38) |
|
probably null |
Het |
| Galnt15 |
A |
G |
14: 32,029,817 (GRCm38) |
S109G |
probably damaging |
Het |
| Gm13757 |
T |
C |
2: 88,446,057 (GRCm38) |
T294A |
probably benign |
Het |
| Gramd2b |
T |
C |
18: 56,482,622 (GRCm38) |
I163T |
probably damaging |
Het |
| Impa1 |
A |
G |
3: 10,326,170 (GRCm38) |
V80A |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,647,371 (GRCm38) |
M56T |
possibly damaging |
Het |
| Larp1b |
G |
T |
3: 41,035,822 (GRCm38) |
R135I |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,604,130 (GRCm38) |
A71T |
probably damaging |
Het |
| Lmbr1 |
A |
T |
5: 29,346,853 (GRCm38) |
L78* |
probably null |
Het |
| Lrat |
C |
A |
3: 82,896,982 (GRCm38) |
M229I |
probably benign |
Het |
| Mug2 |
A |
T |
6: 122,079,650 (GRCm38) |
M1185L |
probably damaging |
Het |
| Naprt |
T |
C |
15: 75,893,847 (GRCm38) |
|
probably null |
Het |
| Nfat5 |
A |
G |
8: 107,368,447 (GRCm38) |
I1107V |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,112,375 (GRCm38) |
Y22C |
probably damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,064,278 (GRCm38) |
Q526K |
probably benign |
Het |
| Or2d4 |
C |
A |
7: 106,944,492 (GRCm38) |
G170* |
probably null |
Het |
| Or3a10 |
G |
A |
11: 74,044,785 (GRCm38) |
T163I |
probably damaging |
Het |
| Or8g36 |
T |
C |
9: 39,511,145 (GRCm38) |
T192A |
probably benign |
Het |
| Parp10 |
T |
G |
15: 76,243,166 (GRCm38) |
I24L |
probably benign |
Het |
| Pcdha11 |
A |
G |
18: 37,011,026 (GRCm38) |
T57A |
probably benign |
Het |
| Prdm8 |
A |
G |
5: 98,185,306 (GRCm38) |
E244G |
possibly damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,312,671 (GRCm38) |
S3P |
possibly damaging |
Het |
| Rab11fip3 |
T |
A |
17: 26,016,143 (GRCm38) |
T18S |
probably damaging |
Het |
| Rfc4 |
T |
C |
16: 23,122,254 (GRCm38) |
|
probably benign |
Het |
| Rubcnl |
G |
T |
14: 75,042,337 (GRCm38) |
V387F |
possibly damaging |
Het |
| S100a7l2 |
A |
T |
3: 91,090,295 (GRCm38) |
L38M |
possibly damaging |
Het |
| Serpinb12 |
T |
C |
1: 106,956,421 (GRCm38) |
L299P |
probably damaging |
Het |
| Sptbn5 |
G |
A |
2: 120,046,484 (GRCm38) |
|
probably benign |
Het |
| Taar4 |
A |
T |
10: 23,961,283 (GRCm38) |
I264F |
possibly damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,797,499 (GRCm38) |
T368S |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,595,833 (GRCm38) |
H124Q |
probably damaging |
Het |
| Ugt1a6a |
A |
T |
1: 88,139,024 (GRCm38) |
Q184L |
probably benign |
Het |
| Vnn1 |
T |
A |
10: 23,898,564 (GRCm38) |
F168L |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,470,408 (GRCm38) |
L267P |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,722,286 (GRCm38) |
S1621G |
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 |
|
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 |
|
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'- CTGGGGTTCTGATTCACCAG -3'
(R):5'- ATCTTTGCTGTGGACCCAGG -3'
Sequencing Primer
(F):5'- ATTCACCAGTGAGTGAGGAGTTATCC -3'
(R):5'- CCAGGTAATTTGGGATACACGC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation