Incidental Mutation 'IGL03068:Atp1a1'
| ID |
409779 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03068
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
101576219-101604684 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101583859 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 620
(H620R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036493
AA Change: H620R
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: H620R
| 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: ENSMUST00000197360
|
| Coding Region Coverage |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago3 |
A |
G |
4: 126,417,378 (GRCm38) |
L14P |
probably damaging |
Het |
| Ak2 |
G |
T |
4: 129,008,026 (GRCm38) |
|
probably benign |
Het |
| Appbp2 |
T |
C |
11: 85,201,420 (GRCm38) |
Y311C |
probably damaging |
Het |
| Arl9 |
C |
A |
5: 77,007,378 (GRCm38) |
L119I |
possibly damaging |
Het |
| Cfap52 |
T |
C |
11: 67,935,856 (GRCm38) |
D381G |
probably benign |
Het |
| Cngb3 |
T |
C |
4: 19,375,246 (GRCm38) |
F292S |
possibly damaging |
Het |
| Comtd1 |
G |
A |
14: 21,847,643 (GRCm38) |
R203C |
probably damaging |
Het |
| Crmp1 |
G |
T |
5: 37,265,289 (GRCm38) |
A147S |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,847,121 (GRCm38) |
H1586L |
possibly damaging |
Het |
| Ctnna1 |
G |
A |
18: 35,249,732 (GRCm38) |
E644K |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,964,759 (GRCm38) |
D957G |
possibly damaging |
Het |
| Ear1 |
G |
T |
14: 43,819,045 (GRCm38) |
S122* |
probably null |
Het |
| Eefsec |
G |
T |
6: 88,258,227 (GRCm38) |
Q576K |
probably benign |
Het |
| Efcab5 |
T |
A |
11: 77,104,101 (GRCm38) |
I1215L |
probably benign |
Het |
| Etfa |
A |
T |
9: 55,487,482 (GRCm38) |
D160E |
probably benign |
Het |
| Exoc7 |
G |
A |
11: 116,301,134 (GRCm38) |
R197C |
possibly damaging |
Het |
| G6pc |
A |
G |
11: 101,370,750 (GRCm38) |
D92G |
probably benign |
Het |
| Gm3182 |
T |
A |
14: 4,483,921 (GRCm38) |
|
probably null |
Het |
| Gm4952 |
A |
G |
19: 12,623,704 (GRCm38) |
N96S |
probably damaging |
Het |
| Gpr156 |
G |
A |
16: 37,992,129 (GRCm38) |
V276M |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,004,974 (GRCm38) |
S1153P |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,158,355 (GRCm38) |
|
probably benign |
Het |
| Lmo7 |
A |
T |
14: 101,875,492 (GRCm38) |
|
probably benign |
Het |
| Mapk4 |
G |
T |
18: 73,970,344 (GRCm38) |
N31K |
probably damaging |
Het |
| Mccc2 |
T |
C |
13: 99,963,811 (GRCm38) |
T357A |
probably damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,462,206 (GRCm38) |
T343A |
probably benign |
Het |
| Myo3b |
G |
T |
2: 70,426,816 (GRCm38) |
|
probably benign |
Het |
| Pald1 |
T |
C |
10: 61,321,184 (GRCm38) |
E829G |
possibly damaging |
Het |
| Pde11a |
A |
G |
2: 76,017,864 (GRCm38) |
I873T |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,375,348 (GRCm38) |
K638* |
probably null |
Het |
| Sema4d |
A |
G |
13: 51,708,886 (GRCm38) |
S479P |
probably damaging |
Het |
| Slc12a2 |
T |
C |
18: 57,904,335 (GRCm38) |
|
probably benign |
Het |
| Slc47a2 |
T |
C |
11: 61,303,943 (GRCm38) |
N470S |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 100,080,205 (GRCm38) |
P1604S |
probably benign |
Het |
| Taf8 |
C |
A |
17: 47,501,365 (GRCm38) |
V39L |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,361,484 (GRCm38) |
E309G |
probably benign |
Het |
| Tmem260 |
A |
G |
14: 48,486,914 (GRCm38) |
|
probably benign |
Het |
| Tsc1 |
A |
T |
2: 28,681,258 (GRCm38) |
K816M |
probably damaging |
Het |
| Ttc29 |
A |
G |
8: 78,325,551 (GRCm38) |
I354V |
probably benign |
Het |
| Ttll3 |
A |
T |
6: 113,409,197 (GRCm38) |
N665Y |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,409,730 (GRCm38) |
T971A |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,582,875 (GRCm38) |
I349N |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,734,847 (GRCm38) |
T504A |
probably benign |
Het |
| Ythdf3 |
T |
A |
3: 16,204,718 (GRCm38) |
V354E |
possibly damaging |
Het |
| Zan |
C |
A |
5: 137,476,415 (GRCm38) |
G13V |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation