Incidental Mutation 'R8281:Atp1a1'
ID |
638186 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp1a1
|
Ensembl Gene |
ENSMUSG00000033161 |
Gene Name |
ATPase, Na+/K+ transporting, alpha 1 polypeptide |
Synonyms |
Atpa-1 |
MMRRC Submission |
067704-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8281 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
101483535-101512000 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101486940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 916
(F916L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
AlphaFold |
Q8VDN2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036493
AA Change: F916L
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000039657 Gene: ENSMUSG00000033161 AA Change: F916L
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: 99.4%
|
Validation Efficiency |
98% (44/45) |
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 |
Adam7 |
G |
A |
14: 68,745,334 (GRCm39) |
T630I |
possibly damaging |
Het |
Adgrf3 |
T |
C |
5: 30,402,301 (GRCm39) |
S576G |
possibly damaging |
Het |
Asxl1 |
A |
G |
2: 153,241,321 (GRCm39) |
R625G |
probably damaging |
Het |
Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
Ccdc168 |
T |
G |
1: 44,095,698 (GRCm39) |
D1800A |
possibly damaging |
Het |
Chd9 |
A |
G |
8: 91,763,225 (GRCm39) |
D2350G |
probably damaging |
Het |
Cic |
G |
A |
7: 24,971,249 (GRCm39) |
V327I |
probably benign |
Het |
Crym |
T |
A |
7: 119,801,250 (GRCm39) |
|
probably benign |
Het |
Cyp3a13 |
G |
C |
5: 137,892,559 (GRCm39) |
S495C |
probably benign |
Het |
D5Ertd579e |
A |
T |
5: 36,770,664 (GRCm39) |
F137I |
|
Het |
Dip2a |
T |
C |
10: 76,112,438 (GRCm39) |
T1087A |
probably damaging |
Het |
Drc7 |
G |
A |
8: 95,788,805 (GRCm39) |
E288K |
possibly damaging |
Het |
Epb41l4a |
T |
C |
18: 34,011,998 (GRCm39) |
E174G |
probably damaging |
Het |
Ern2 |
T |
C |
7: 121,769,483 (GRCm39) |
R848G |
probably damaging |
Het |
F13b |
G |
T |
1: 139,438,689 (GRCm39) |
R364S |
probably benign |
Het |
F2rl1 |
A |
G |
13: 95,650,585 (GRCm39) |
L99P |
probably damaging |
Het |
Fam193a |
C |
A |
5: 34,600,780 (GRCm39) |
N171K |
unknown |
Het |
Fst |
A |
G |
13: 114,591,777 (GRCm39) |
S201P |
probably benign |
Het |
Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
Gm8232 |
A |
G |
14: 44,674,548 (GRCm39) |
I182V |
|
Het |
Iqca1l |
T |
A |
5: 24,754,008 (GRCm39) |
H417L |
probably benign |
Het |
Kalrn |
C |
T |
16: 33,855,431 (GRCm39) |
W1956* |
probably null |
Het |
Klk1b16 |
A |
G |
7: 43,790,971 (GRCm39) |
M258V |
probably benign |
Het |
Lta4h |
G |
T |
10: 93,289,456 (GRCm39) |
D29Y |
probably damaging |
Het |
Marchf7 |
C |
T |
2: 60,064,873 (GRCm39) |
S383L |
probably benign |
Het |
Mob3c |
T |
C |
4: 115,688,635 (GRCm39) |
I56T |
probably benign |
Het |
Msl2 |
T |
C |
9: 100,978,894 (GRCm39) |
S423P |
probably benign |
Het |
Otop3 |
T |
C |
11: 115,235,901 (GRCm39) |
I511T |
possibly damaging |
Het |
Pbld2 |
T |
G |
10: 62,883,805 (GRCm39) |
L90R |
probably damaging |
Het |
Pcdh8 |
A |
G |
14: 80,006,919 (GRCm39) |
V548A |
probably damaging |
Het |
Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
Plch2 |
T |
A |
4: 155,091,430 (GRCm39) |
M228L |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,523,117 (GRCm39) |
C1180R |
probably damaging |
Het |
Rasl2-9 |
A |
T |
7: 5,128,351 (GRCm39) |
L193* |
probably null |
Het |
Rbp3 |
A |
G |
14: 33,678,320 (GRCm39) |
K756R |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,418,139 (GRCm39) |
E991G |
probably damaging |
Het |
Slc12a7 |
G |
A |
13: 73,938,796 (GRCm39) |
R191H |
probably damaging |
Het |
Spaca6 |
A |
G |
17: 18,052,321 (GRCm39) |
N87S |
possibly damaging |
Het |
Spata31e5 |
C |
T |
1: 28,817,225 (GRCm39) |
C269Y |
possibly damaging |
Het |
Speer1h |
T |
A |
5: 11,647,646 (GRCm39) |
M128K |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,709,728 (GRCm39) |
V1639E |
probably damaging |
Het |
Thpo |
T |
C |
16: 20,544,525 (GRCm39) |
N235S |
possibly damaging |
Het |
Tmem63b |
T |
A |
17: 45,971,722 (GRCm39) |
H831L |
probably benign |
Het |
Tomm20l |
T |
C |
12: 71,158,241 (GRCm39) |
V8A |
probably benign |
Het |
Trav13-5 |
A |
G |
14: 54,032,918 (GRCm39) |
R3G |
possibly damaging |
Het |
Vill |
T |
C |
9: 118,887,547 (GRCm39) |
S104P |
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 |
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 |
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'- GAACTAGGTCATAGATGTGGGATGC -3'
(R):5'- TTTCACCTGTTGGGCATCCG -3'
Sequencing Primer
(F):5'- TGGGATGCTGAATTTATTCTAAAGG -3'
(R):5'- TGTTGGGCATCCGAGAGAC -3'
|
Posted On |
2020-07-28 |