Incidental Mutation 'R3770:Atp1a1'
| ID |
273202 |
| 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 # |
R3770 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
101483535-101512000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101488510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 842
(D842G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036493
AA Change: D842G
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: D842G
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
T |
C |
11: 116,065,213 (GRCm39) |
D578G |
probably damaging |
Het |
| Adgrb1 |
T |
A |
15: 74,460,157 (GRCm39) |
I543N |
probably damaging |
Het |
| Agbl1 |
T |
C |
7: 76,075,677 (GRCm39) |
|
probably null |
Het |
| Ano1 |
A |
G |
7: 144,149,306 (GRCm39) |
Y852H |
probably damaging |
Het |
| Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
| Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
| Brd7 |
A |
T |
8: 89,066,035 (GRCm39) |
|
probably null |
Het |
| Btbd7 |
G |
A |
12: 102,761,451 (GRCm39) |
P578L |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Cfap54 |
C |
T |
10: 92,714,398 (GRCm39) |
M2660I |
unknown |
Het |
| Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,391,989 (GRCm39) |
D410G |
probably benign |
Het |
| Foxk2 |
CGGGGGG |
CGGGGGGGGG |
11: 121,151,317 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,814,755 (GRCm39) |
I2703V |
probably benign |
Het |
| Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
| Iqcg |
G |
A |
16: 32,870,378 (GRCm39) |
|
silent |
Het |
| Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
| Krtap12-1 |
G |
T |
10: 77,556,729 (GRCm39) |
V91L |
probably benign |
Het |
| Lipo5 |
G |
T |
19: 33,445,200 (GRCm39) |
T123N |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,268,560 (GRCm39) |
S4689P |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,900,765 (GRCm39) |
V313D |
probably damaging |
Het |
| Mypn |
C |
A |
10: 62,961,486 (GRCm39) |
L1035F |
possibly damaging |
Het |
| Neurl1a |
T |
C |
19: 47,228,328 (GRCm39) |
L58P |
probably damaging |
Het |
| Or5aq1 |
C |
T |
2: 86,966,158 (GRCm39) |
C169Y |
probably damaging |
Het |
| Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
| Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
| Ppm1h |
G |
T |
10: 122,740,027 (GRCm39) |
L367F |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
| Rasal3 |
A |
T |
17: 32,611,125 (GRCm39) |
L912Q |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,153,564 (GRCm39) |
V2247M |
probably damaging |
Het |
| Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 38,113,579 (GRCm39) |
R313W |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,613,115 (GRCm39) |
D825V |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,079,668 (GRCm39) |
H832R |
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,409,718 (GRCm39) |
D300G |
possibly damaging |
Het |
| Sos1 |
A |
G |
17: 80,705,737 (GRCm39) |
V1278A |
probably damaging |
Het |
| Sstr3 |
C |
A |
15: 78,424,577 (GRCm39) |
V57L |
probably damaging |
Het |
| Tex2 |
T |
A |
11: 106,435,078 (GRCm39) |
R783W |
unknown |
Het |
| Tjp2 |
A |
T |
19: 24,078,190 (GRCm39) |
I901N |
probably benign |
Het |
| Top1 |
A |
T |
2: 160,563,442 (GRCm39) |
I758F |
probably damaging |
Het |
| Trim41 |
T |
C |
11: 48,699,911 (GRCm39) |
E98G |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,589,623 (GRCm39) |
N764K |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,106,434 (GRCm39) |
I471F |
probably damaging |
Het |
| Wdr25 |
G |
A |
12: 108,864,346 (GRCm39) |
V164M |
probably damaging |
Het |
| Zdhhc13 |
T |
A |
7: 48,452,692 (GRCm39) |
L5M |
probably damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,984,035 (GRCm39) |
|
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 |
|
|
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 |
|
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'- AGAACTGAAGTCAGAGCCTTACTC -3'
(R):5'- TGGTTAAGAGAGCCTGCCAG -3'
Sequencing Primer
(F):5'- AGCCTTACTCTACGGCTGG -3'
(R):5'- TTAAGAGAGCCTGCCAGGTCTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation