Incidental Mutation 'R0724:Atp1a1'
| ID |
262002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1a1
|
| Ensembl Gene |
ENSMUSG00000033161 |
| Gene Name |
ATPase, Na+/K+ transporting, alpha 1 polypeptide |
| Synonyms |
Atpa-1 |
| MMRRC Submission |
038906-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0724 (G1)
|
| Quality Score |
63 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
101576219-101604684 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101592439 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 109
(I109N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036493
AA Change: I109N
PolyPhen 2
Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: I109N
| 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
|
| Meta Mutation Damage Score |
0.9599 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
100% (62/62) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 145,044,763 (GRCm38) |
E136G |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 55,852,281 (GRCm38) |
S655R |
probably benign |
Het |
| Ak7 |
T |
A |
12: 105,710,254 (GRCm38) |
V71E |
probably benign |
Het |
| Ank2 |
C |
T |
3: 126,962,337 (GRCm38) |
R1077H |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,828,748 (GRCm38) |
T198A |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,077,892 (GRCm38) |
I119T |
probably damaging |
Het |
| Carm1 |
A |
G |
9: 21,587,374 (GRCm38) |
Y504C |
probably damaging |
Het |
| Casp1 |
C |
T |
9: 5,303,077 (GRCm38) |
P177L |
probably benign |
Het |
| Ccdc122 |
C |
A |
14: 77,092,077 (GRCm38) |
|
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,039,513 (GRCm38) |
S158P |
probably damaging |
Het |
| Ces3a |
T |
A |
8: 105,050,195 (GRCm38) |
D103E |
possibly damaging |
Het |
| Clstn1 |
A |
C |
4: 149,643,624 (GRCm38) |
D583A |
possibly damaging |
Het |
| Corin |
A |
G |
5: 72,332,795 (GRCm38) |
|
probably benign |
Het |
| Cryba1 |
T |
C |
11: 77,719,457 (GRCm38) |
D144G |
probably damaging |
Het |
| Cwf19l2 |
G |
T |
9: 3,421,377 (GRCm38) |
|
probably null |
Het |
| Dis3l |
T |
C |
9: 64,307,126 (GRCm38) |
T1027A |
possibly damaging |
Het |
| Dopey2 |
A |
G |
16: 93,762,325 (GRCm38) |
E653G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,188,677 (GRCm38) |
I1459V |
probably benign |
Het |
| Dyrk3 |
T |
C |
1: 131,130,140 (GRCm38) |
T64A |
probably benign |
Het |
| Emp2 |
C |
T |
16: 10,284,615 (GRCm38) |
C111Y |
probably benign |
Het |
| Enam |
A |
G |
5: 88,501,994 (GRCm38) |
Y454C |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,352,064 (GRCm38) |
C1328S |
probably benign |
Het |
| Gata3 |
T |
C |
2: 9,874,575 (GRCm38) |
T197A |
probably benign |
Het |
| Gm1043 |
A |
G |
5: 37,187,229 (GRCm38) |
T212A |
probably damaging |
Het |
| Gm15448 |
T |
C |
7: 3,816,872 (GRCm38) |
N564S |
possibly damaging |
Het |
| H2-Eb1 |
T |
C |
17: 34,315,032 (GRCm38) |
|
probably benign |
Het |
| Hand1 |
T |
C |
11: 57,831,680 (GRCm38) |
H36R |
probably damaging |
Het |
| Hmgcs2 |
C |
A |
3: 98,297,001 (GRCm38) |
Y239* |
probably null |
Het |
| Hoxc12 |
A |
G |
15: 102,937,055 (GRCm38) |
Y68C |
probably damaging |
Het |
| Inpp5a |
A |
G |
7: 139,516,663 (GRCm38) |
I143V |
probably benign |
Het |
| Klhdc2 |
C |
A |
12: 69,297,048 (GRCm38) |
F18L |
probably benign |
Het |
| Kpnb1 |
T |
C |
11: 97,178,304 (GRCm38) |
Y251C |
probably damaging |
Het |
| Lrch4 |
A |
T |
5: 137,637,308 (GRCm38) |
N315I |
probably damaging |
Het |
| Map3k10 |
A |
C |
7: 27,668,355 (GRCm38) |
V286G |
probably damaging |
Het |
| Myo7b |
G |
A |
18: 32,005,549 (GRCm38) |
|
probably benign |
Het |
| Nlrp2 |
G |
T |
7: 5,319,222 (GRCm38) |
L809I |
probably damaging |
Het |
| Oacyl |
T |
C |
18: 65,737,825 (GRCm38) |
|
probably benign |
Het |
| Olfr735 |
A |
G |
14: 50,345,917 (GRCm38) |
V175A |
possibly damaging |
Het |
| Paxbp1 |
T |
A |
16: 91,036,536 (GRCm38) |
D270V |
probably damaging |
Het |
| Pdia3 |
G |
A |
2: 121,432,377 (GRCm38) |
G275S |
probably damaging |
Het |
| Plcb3 |
G |
A |
19: 6,963,392 (GRCm38) |
R359C |
probably damaging |
Het |
| Plcxd3 |
G |
A |
15: 4,516,868 (GRCm38) |
S118N |
probably damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,850,947 (GRCm38) |
S664P |
possibly damaging |
Het |
| Sirt1 |
T |
C |
10: 63,323,973 (GRCm38) |
I443V |
possibly damaging |
Het |
| Slc7a8 |
G |
A |
14: 54,735,186 (GRCm38) |
|
probably benign |
Het |
| Smim14 |
A |
G |
5: 65,453,339 (GRCm38) |
|
probably benign |
Het |
| Sost |
C |
T |
11: 101,966,918 (GRCm38) |
C19Y |
probably benign |
Het |
| Tcaf1 |
G |
T |
6: 42,675,367 (GRCm38) |
A727E |
probably damaging |
Het |
| Thoc1 |
T |
C |
18: 9,963,829 (GRCm38) |
L144P |
probably damaging |
Het |
| Tmem132b |
A |
T |
5: 125,783,421 (GRCm38) |
T577S |
possibly damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,038,213 (GRCm38) |
H239Y |
probably benign |
Het |
| Tshr |
T |
C |
12: 91,538,286 (GRCm38) |
F666S |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,540,862 (GRCm38) |
V192A |
possibly damaging |
Het |
| Zfp697 |
T |
C |
3: 98,428,166 (GRCm38) |
W416R |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCAGCACACCTAAGTGCAGAG -3'
(R):5'- CTCCTCAGGGATTAACACCTGCAAG -3'
Sequencing Primer
(F):5'- ggcagagccaggcagag -3'
(R):5'- TTAACACCTGCAAGGGCCG -3'
|
| Posted On |
2015-02-04 |
Incidental Mutation