Incidental Mutation 'R8435:Atp1a1'
| ID |
653936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1a1
|
| Ensembl Gene |
ENSMUSG00000033161 |
| Gene Name |
ATPase, Na+/K+ transporting, alpha 1 polypeptide |
| Synonyms |
Atpa-1 |
| MMRRC Submission |
067824-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8435 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
101483535-101512000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101490078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 684
(Y684H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036493
AA Change: Y684H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: Y684H
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
G |
T |
12: 24,146,881 (GRCm39) |
T30K |
possibly damaging |
Het |
| Adam20 |
C |
T |
8: 41,248,072 (GRCm39) |
P61S |
probably damaging |
Het |
| Akip1 |
C |
T |
7: 109,304,193 (GRCm39) |
S90L |
unknown |
Het |
| Atp13a5 |
C |
T |
16: 29,099,747 (GRCm39) |
|
probably null |
Het |
| Bach2 |
T |
A |
4: 32,501,682 (GRCm39) |
C20S |
possibly damaging |
Het |
| Cage1 |
T |
C |
13: 38,203,161 (GRCm39) |
I634M |
possibly damaging |
Het |
| Cckbr |
T |
C |
7: 105,075,280 (GRCm39) |
S17P |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,321,715 (GRCm39) |
T366A |
probably benign |
Het |
| Cps1 |
G |
A |
1: 67,251,589 (GRCm39) |
V1196I |
probably benign |
Het |
| Ddc |
A |
T |
11: 11,814,902 (GRCm39) |
S188T |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,729,070 (GRCm39) |
C82R |
possibly damaging |
Het |
| Fig4 |
T |
A |
10: 41,161,670 (GRCm39) |
H31L |
probably benign |
Het |
| Fkbp5 |
T |
C |
17: 28,621,752 (GRCm39) |
D366G |
possibly damaging |
Het |
| Ift80 |
A |
G |
3: 68,892,787 (GRCm39) |
S134P |
probably damaging |
Het |
| Lacc1 |
A |
T |
14: 77,272,475 (GRCm39) |
V107D |
possibly damaging |
Het |
| Lcp2 |
A |
G |
11: 34,004,316 (GRCm39) |
E51G |
probably damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,392,199 (GRCm39) |
Y2815H |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,307,998 (GRCm39) |
L481P |
probably damaging |
Het |
| Ltbp4 |
C |
A |
7: 27,034,870 (GRCm39) |
R97L |
unknown |
Het |
| Mbnl1 |
G |
A |
3: 60,437,090 (GRCm39) |
W13* |
probably null |
Het |
| Neb |
T |
A |
2: 52,157,729 (GRCm39) |
T2293S |
probably benign |
Het |
| Nrg3 |
CCCGCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGCCGC |
14: 39,194,654 (GRCm39) |
|
probably benign |
Het |
| Odr4 |
T |
G |
1: 150,258,020 (GRCm39) |
K205T |
possibly damaging |
Het |
| Or56b1 |
A |
T |
7: 104,285,657 (GRCm39) |
T259S |
probably benign |
Het |
| Or5v1 |
A |
G |
17: 37,809,676 (GRCm39) |
I45V |
probably benign |
Het |
| Or8a1b |
T |
A |
9: 37,622,846 (GRCm39) |
H243L |
probably damaging |
Het |
| Pcmt1 |
G |
A |
10: 7,515,825 (GRCm39) |
P221L |
possibly damaging |
Het |
| Plag1 |
T |
A |
4: 3,905,648 (GRCm39) |
D14V |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,049,048 (GRCm39) |
S28P |
probably benign |
Het |
| Rab11fip5 |
T |
A |
6: 85,314,522 (GRCm39) |
I1232F |
possibly damaging |
Het |
| Rpl18a |
C |
T |
8: 71,348,341 (GRCm39) |
G114D |
possibly damaging |
Het |
| Rtel1 |
A |
G |
2: 180,995,897 (GRCm39) |
D927G |
possibly damaging |
Het |
| Shcbp1 |
C |
T |
8: 4,798,734 (GRCm39) |
C395Y |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,048,565 (GRCm39) |
T361S |
probably benign |
Het |
| Slc35f5 |
C |
T |
1: 125,488,994 (GRCm39) |
R5* |
probably null |
Het |
| Slc37a4 |
G |
A |
9: 44,310,759 (GRCm39) |
C121Y |
probably damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Tc2n |
C |
T |
12: 101,615,376 (GRCm39) |
W483* |
probably null |
Het |
| Tex101 |
G |
A |
7: 24,367,791 (GRCm39) |
T187I |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,610,441 (GRCm39) |
L303P |
probably damaging |
Het |
| Trpv5 |
A |
T |
6: 41,647,827 (GRCm39) |
Y329N |
probably damaging |
Het |
| Tshz1 |
C |
A |
18: 84,032,149 (GRCm39) |
S753I |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,546,264 (GRCm39) |
T32383I |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,544 (GRCm39) |
E234G |
probably damaging |
Het |
| Vmn1r120 |
T |
A |
7: 20,787,557 (GRCm39) |
R51S |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,576,172 (GRCm39) |
T348S |
probably benign |
Het |
| Zdhhc21 |
T |
C |
4: 82,753,714 (GRCm39) |
Y158C |
probably damaging |
Het |
| Zfp236 |
C |
T |
18: 82,658,366 (GRCm39) |
G632D |
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 |
|
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 |
|
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'- AGGCTACAGCATGGCAGAATC -3'
(R):5'- ACAGGACCAGCTCTTACGTG -3'
Sequencing Primer
(F):5'- AGCATGGCAGAATCCCTCTTC -3'
(R):5'- CTCTTACGTGGCGGGGAAGTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation