Incidental Mutation 'IGL01863:Atp1a1'
| ID |
178408 |
| 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 # |
IGL01863
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
101576219-101604684 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 101591889 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 131
(Y131*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036493
AA Change: Y131*
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: Y131*
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
T |
A |
10: 42,339,911 (GRCm38) |
I326F |
possibly damaging |
Het |
| Aimp1 |
T |
C |
3: 132,672,092 (GRCm38) |
T171A |
probably benign |
Het |
| Armc4 |
T |
C |
18: 7,222,617 (GRCm38) |
T551A |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,985,506 (GRCm38) |
L1564* |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,394,022 (GRCm38) |
E2686G |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 71,989,926 (GRCm38) |
V395A |
possibly damaging |
Het |
| Ephb2 |
T |
C |
4: 136,659,777 (GRCm38) |
Q713R |
probably benign |
Het |
| Esf1 |
A |
T |
2: 140,120,679 (GRCm38) |
M824K |
probably benign |
Het |
| Fam46c |
C |
T |
3: 100,472,664 (GRCm38) |
D259N |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,970,619 (GRCm38) |
|
probably benign |
Het |
| Gem |
A |
G |
4: 11,705,980 (GRCm38) |
I23V |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm38) |
Y194F |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,022,771 (GRCm38) |
W41G |
probably benign |
Het |
| Il6st |
A |
G |
13: 112,504,210 (GRCm38) |
E779G |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,419,936 (GRCm38) |
|
probably benign |
Het |
| Lipi |
A |
C |
16: 75,550,226 (GRCm38) |
I435R |
probably damaging |
Het |
| Lrrc6 |
A |
T |
15: 66,396,974 (GRCm38) |
|
probably benign |
Het |
| Olfr291 |
T |
C |
7: 84,856,411 (GRCm38) |
L14P |
probably damaging |
Het |
| Omg |
C |
T |
11: 79,502,224 (GRCm38) |
M269I |
probably benign |
Het |
| Optn |
A |
T |
2: 5,021,487 (GRCm38) |
|
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,606,066 (GRCm38) |
T298A |
probably benign |
Het |
| Rab27b |
T |
A |
18: 69,989,554 (GRCm38) |
R111S |
probably damaging |
Het |
| Rhbdf1 |
T |
G |
11: 32,213,484 (GRCm38) |
E329D |
probably benign |
Het |
| Slc2a13 |
T |
C |
15: 91,516,492 (GRCm38) |
I176V |
probably benign |
Het |
| Slc30a1 |
T |
A |
1: 191,909,084 (GRCm38) |
C281S |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,762,430 (GRCm38) |
C509S |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,981,325 (GRCm38) |
R862G |
probably benign |
Het |
| Tbc1d2 |
A |
G |
4: 46,607,064 (GRCm38) |
I782T |
possibly damaging |
Het |
| Vmn2r-ps159 |
C |
T |
4: 156,338,254 (GRCm38) |
|
noncoding transcript |
Het |
| Vps33b |
T |
C |
7: 80,274,311 (GRCm38) |
|
probably null |
Het |
| Wrap73 |
A |
G |
4: 154,145,333 (GRCm38) |
I54V |
probably benign |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation