Incidental Mutation 'R5066:Atp1a1'
ID |
388313 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp1a1
|
Ensembl Gene |
ENSMUSG00000033161 |
Gene Name |
ATPase, Na+/K+ transporting, alpha 1 polypeptide |
Synonyms |
Atpa-1 |
MMRRC Submission |
042656-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5066 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
101483535-101512000 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 101489420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 731
(G731R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
AlphaFold |
Q8VDN2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036493
AA Change: G731R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000039657 Gene: ENSMUSG00000033161 AA Change: G731R
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: ENSMUST00000130649
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136340
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197360
|
Meta Mutation Damage Score |
0.9706 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
100% (45/45) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544D05Rik |
A |
T |
11: 70,507,417 (GRCm39) |
Y154F |
probably benign |
Het |
Abca5 |
A |
T |
11: 110,200,176 (GRCm39) |
|
probably benign |
Het |
Agtpbp1 |
T |
A |
13: 59,622,364 (GRCm39) |
D11V |
probably damaging |
Het |
Aldh1a2 |
G |
A |
9: 71,188,982 (GRCm39) |
A299T |
possibly damaging |
Het |
Apc |
T |
A |
18: 34,449,158 (GRCm39) |
V1984D |
probably damaging |
Het |
Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
Atp13a2 |
G |
A |
4: 140,732,449 (GRCm39) |
V905M |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,836,113 (GRCm39) |
V1131A |
possibly damaging |
Het |
Bcl2l13 |
T |
A |
6: 120,863,982 (GRCm39) |
V312E |
possibly damaging |
Het |
Chic2 |
A |
G |
5: 75,187,817 (GRCm39) |
V81A |
possibly damaging |
Het |
Drg1 |
A |
T |
11: 3,209,353 (GRCm39) |
I122N |
possibly damaging |
Het |
Efcab3 |
A |
G |
11: 104,611,490 (GRCm39) |
D444G |
probably benign |
Het |
Flt4 |
A |
G |
11: 49,524,990 (GRCm39) |
N612S |
possibly damaging |
Het |
Hadhb |
T |
C |
5: 30,369,094 (GRCm39) |
|
probably benign |
Het |
Heg1 |
G |
T |
16: 33,559,041 (GRCm39) |
R856S |
probably benign |
Het |
Ice2 |
A |
C |
9: 69,315,573 (GRCm39) |
N143T |
probably benign |
Het |
Igkv8-21 |
G |
A |
6: 70,292,427 (GRCm39) |
Q4* |
probably null |
Het |
Lrfn2 |
T |
C |
17: 49,403,448 (GRCm39) |
S524P |
probably damaging |
Het |
Mndal |
C |
A |
1: 173,703,229 (GRCm39) |
A59S |
probably damaging |
Het |
Mpp7 |
T |
C |
18: 7,513,002 (GRCm39) |
E33G |
possibly damaging |
Het |
Msantd5l |
A |
G |
11: 51,145,251 (GRCm39) |
F112S |
probably damaging |
Het |
Nedd4 |
T |
A |
9: 72,617,801 (GRCm39) |
D187E |
probably damaging |
Het |
Nfx1 |
A |
G |
4: 40,991,868 (GRCm39) |
I519V |
probably benign |
Het |
Or10p22 |
G |
A |
10: 128,826,660 (GRCm39) |
R293Q |
probably damaging |
Het |
Or6c204 |
T |
C |
10: 129,022,433 (GRCm39) |
I286V |
possibly damaging |
Het |
Padi1 |
T |
C |
4: 140,556,748 (GRCm39) |
N153S |
probably damaging |
Het |
Parp10 |
A |
G |
15: 76,125,146 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
A |
T |
18: 78,900,514 (GRCm39) |
M1051K |
probably damaging |
Het |
Slc2a7 |
T |
A |
4: 150,244,573 (GRCm39) |
M347K |
probably damaging |
Het |
Slc45a2 |
C |
A |
15: 11,012,693 (GRCm39) |
T232K |
probably benign |
Het |
Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
Spata13 |
T |
C |
14: 60,987,538 (GRCm39) |
Y899H |
possibly damaging |
Het |
Sult1c2 |
T |
A |
17: 54,281,026 (GRCm39) |
I26F |
probably damaging |
Het |
Sybu |
A |
G |
15: 44,541,040 (GRCm39) |
C341R |
probably damaging |
Het |
Syk |
T |
A |
13: 52,796,018 (GRCm39) |
S538T |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,013,325 (GRCm39) |
T2840A |
probably benign |
Het |
Thsd4 |
A |
G |
9: 59,883,615 (GRCm39) |
C924R |
probably damaging |
Het |
Tle1 |
A |
G |
4: 72,076,504 (GRCm39) |
S175P |
probably benign |
Het |
Tmbim4 |
C |
T |
10: 120,053,537 (GRCm39) |
T112M |
probably benign |
Het |
Tmprss11a |
A |
G |
5: 86,567,859 (GRCm39) |
|
probably null |
Het |
Tnc |
C |
A |
4: 63,893,466 (GRCm39) |
D1698Y |
probably damaging |
Het |
Ypel1 |
A |
G |
16: 16,927,539 (GRCm39) |
Y18H |
probably benign |
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 |
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'- GGACCTGAAGACAAGCTCAC -3'
(R):5'- TGGGGTCCATGTCTACTTAGCC -3'
Sequencing Primer
(F):5'- GCTCACTAACTGCCCACTGG -3'
(R):5'- GGTCCATGTCTACTTAGCCAAGATG -3'
|
Posted On |
2016-06-06 |