Incidental Mutation 'R5379:Atp1a1'
| ID |
425730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1a1
|
| Ensembl Gene |
ENSMUSG00000033161 |
| Gene Name |
ATPase, Na+/K+ transporting, alpha 1 polypeptide |
| Synonyms |
Atpa-1 |
| MMRRC Submission |
042954-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
101483535-101512000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101489411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 734
(M734L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036493]
|
| AlphaFold |
Q8VDN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036493
AA Change: M734L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: M734L
| 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
|
| Meta Mutation Damage Score |
0.7226 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (58/60) |
| 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 |
|---|
| Adcy1 |
T |
A |
11: 7,096,532 (GRCm39) |
L640Q |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,891,721 (GRCm39) |
E32G |
probably damaging |
Het |
| B4galt6 |
T |
C |
18: 20,822,296 (GRCm39) |
D294G |
probably damaging |
Het |
| Baz1a |
T |
G |
12: 54,941,133 (GRCm39) |
D1539A |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,208,520 (GRCm39) |
S141T |
probably benign |
Het |
| Camkv |
T |
C |
9: 107,822,545 (GRCm39) |
V20A |
probably damaging |
Het |
| Chst8 |
A |
G |
7: 34,375,279 (GRCm39) |
Y187H |
probably damaging |
Het |
| Coro1c |
A |
G |
5: 113,983,443 (GRCm39) |
Y362H |
probably damaging |
Het |
| Csmd3 |
C |
A |
15: 47,499,846 (GRCm39) |
G3008* |
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,008,029 (GRCm39) |
|
probably benign |
Het |
| Dnajb1 |
C |
T |
8: 84,335,135 (GRCm39) |
R59C |
possibly damaging |
Het |
| Dpf1 |
A |
G |
7: 29,003,533 (GRCm39) |
K10E |
probably benign |
Het |
| Eif5 |
T |
C |
12: 111,509,989 (GRCm39) |
L311P |
probably damaging |
Het |
| Eqtn |
A |
G |
4: 94,795,825 (GRCm39) |
F251S |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,002,998 (GRCm39) |
S620P |
probably benign |
Het |
| Farp1 |
T |
C |
14: 121,494,169 (GRCm39) |
V550A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,194,767 (GRCm39) |
T1091A |
probably damaging |
Het |
| Fbxo33 |
A |
G |
12: 59,266,246 (GRCm39) |
|
probably benign |
Het |
| Fndc5 |
A |
T |
4: 129,035,887 (GRCm39) |
I175F |
probably damaging |
Het |
| Gtf2ird2 |
G |
C |
5: 134,246,310 (GRCm39) |
R856P |
probably benign |
Het |
| Hc |
A |
T |
2: 34,881,077 (GRCm39) |
F1481I |
probably damaging |
Het |
| Helz2 |
T |
A |
2: 180,876,862 (GRCm39) |
T1211S |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,299,023 (GRCm39) |
V2790M |
probably damaging |
Het |
| Ighv1-82 |
T |
C |
12: 115,916,297 (GRCm39) |
Y71C |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,711,560 (GRCm39) |
D725G |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,350,371 (GRCm39) |
V754A |
probably benign |
Het |
| Larp4b |
C |
A |
13: 9,186,945 (GRCm39) |
T91K |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,299,190 (GRCm39) |
E1948G |
possibly damaging |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Mrgprb13 |
A |
T |
7: 47,961,496 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrc4 |
A |
T |
17: 74,755,078 (GRCm39) |
L46* |
probably null |
Het |
| Or13c7c |
A |
G |
4: 43,836,010 (GRCm39) |
I160T |
probably benign |
Het |
| Or7g21 |
A |
T |
9: 19,032,373 (GRCm39) |
T38S |
probably damaging |
Het |
| Or8d1b |
T |
C |
9: 38,887,151 (GRCm39) |
Y60H |
possibly damaging |
Het |
| Orm1 |
A |
G |
4: 63,264,230 (GRCm39) |
|
probably null |
Het |
| Parva |
A |
T |
7: 112,178,927 (GRCm39) |
H311L |
probably benign |
Het |
| Pramel25 |
A |
G |
4: 143,521,493 (GRCm39) |
I370V |
probably benign |
Het |
| Proca1 |
C |
A |
11: 78,096,092 (GRCm39) |
S154R |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,307,771 (GRCm39) |
V344A |
probably damaging |
Het |
| Rabep1 |
A |
T |
11: 70,799,247 (GRCm39) |
K293N |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,789,083 (GRCm39) |
V423A |
probably damaging |
Het |
| Rnf20 |
T |
A |
4: 49,652,639 (GRCm39) |
Y711N |
possibly damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,042,309 (GRCm39) |
M498K |
possibly damaging |
Het |
| Sin3a |
T |
C |
9: 57,018,272 (GRCm39) |
M897T |
probably benign |
Het |
| Sp140 |
T |
A |
1: 85,538,549 (GRCm39) |
D95E |
possibly damaging |
Het |
| Srbd1 |
A |
C |
17: 86,308,964 (GRCm39) |
I738S |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,072,991 (GRCm39) |
V2106A |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,638,496 (GRCm39) |
R412G |
probably benign |
Het |
| Tex47 |
G |
A |
5: 7,354,843 (GRCm39) |
R8Q |
probably null |
Het |
| Trpc7 |
A |
G |
13: 56,952,363 (GRCm39) |
Y548H |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,306,054 (GRCm39) |
H152L |
possibly damaging |
Het |
| Zfp184 |
A |
G |
13: 22,144,051 (GRCm39) |
I586V |
probably damaging |
Het |
| Zfp454 |
T |
C |
11: 50,774,629 (GRCm39) |
T15A |
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 |
|
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'- TCAGACGACCTGGAAAAGC -3'
(R):5'- AAGGGCATCTATAACCTGCTGAG -3'
Sequencing Primer
(F):5'- TATTATAAGGCTTGAAGAGACTGGC -3'
(R):5'- GCATCTATAACCTGCTGAGTGTGTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation