Incidental Mutation 'R1652:Atp1a4'
| ID |
188760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1a4
|
| Ensembl Gene |
ENSMUSG00000007107 |
| Gene Name |
ATPase, Na+/K+ transporting, alpha 4 polypeptide |
| Synonyms |
|
| MMRRC Submission |
039688-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1652 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
172051080-172085981 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172082470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 124
(Y124C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111243]
|
| AlphaFold |
Q9WV27 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111243
AA Change: Y124C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106874
Gene: ENSMUSG00000007107
AA Change: Y124C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
50 |
N/A |
INTRINSIC |
|
Cation_ATPase_N
|
51 |
125 |
1.22e-14 |
SMART |
|
Pfam:E1-E2_ATPase
|
144 |
375 |
2.6e-59 |
PFAM |
|
Pfam:Hydrolase
|
380 |
738 |
8.1e-19 |
PFAM |
|
Pfam:HAD
|
383 |
735 |
1.6e-17 |
PFAM |
|
Pfam:Cation_ATPase
|
437 |
531 |
9.2e-25 |
PFAM |
|
Pfam:Cation_ATPase_C
|
808 |
1017 |
1.2e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193316
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| 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 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit infertility associated with asthenozoospermia and teratozoospermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
T |
A |
14: 66,314,700 (GRCm39) |
E37V |
probably benign |
Het |
| Adamts7 |
A |
G |
9: 90,071,697 (GRCm39) |
D664G |
probably damaging |
Het |
| Adamtsl5 |
A |
G |
10: 80,178,011 (GRCm39) |
V256A |
probably benign |
Het |
| Adrb1 |
C |
T |
19: 56,711,705 (GRCm39) |
S301L |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,127,210 (GRCm39) |
Y3686C |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,123,147 (GRCm39) |
S456P |
probably damaging |
Het |
| Bdkrb1 |
A |
T |
12: 105,570,502 (GRCm39) |
T23S |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,318,230 (GRCm39) |
Y1468H |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,699,947 (GRCm39) |
D152G |
probably damaging |
Het |
| Cers4 |
T |
A |
8: 4,566,908 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
G |
T |
15: 8,230,630 (GRCm39) |
R969L |
probably damaging |
Het |
| Cyp2t4 |
A |
T |
7: 26,856,815 (GRCm39) |
D285V |
possibly damaging |
Het |
| Ddx56 |
A |
T |
11: 6,217,679 (GRCm39) |
L14Q |
probably damaging |
Het |
| Dennd2d |
C |
A |
3: 106,394,317 (GRCm39) |
R63S |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,214,550 (GRCm39) |
L1105* |
probably null |
Het |
| Eef1e1 |
A |
T |
13: 38,840,081 (GRCm39) |
L75I |
possibly damaging |
Het |
| Eif1ad11 |
T |
A |
12: 87,993,853 (GRCm39) |
V27E |
probably benign |
Het |
| Fam76b |
A |
G |
9: 13,747,188 (GRCm39) |
S191G |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,478,215 (GRCm39) |
Y2420* |
probably null |
Het |
| Fbxw18 |
T |
A |
9: 109,519,695 (GRCm39) |
L270F |
probably benign |
Het |
| Fech |
T |
A |
18: 64,591,269 (GRCm39) |
H385L |
probably benign |
Het |
| Fkbp4 |
A |
T |
6: 128,413,637 (GRCm39) |
I2N |
probably damaging |
Het |
| Gda |
A |
T |
19: 21,378,042 (GRCm39) |
M339K |
probably damaging |
Het |
| Gdpgp1 |
T |
A |
7: 79,889,112 (GRCm39) |
M381K |
probably benign |
Het |
| Glyctk |
C |
A |
9: 106,034,356 (GRCm39) |
V173L |
probably damaging |
Het |
| Gtf2ird1 |
G |
A |
5: 134,424,567 (GRCm39) |
P393L |
probably damaging |
Het |
| Kat2a |
T |
C |
11: 100,599,437 (GRCm39) |
N517D |
probably damaging |
Het |
| Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,114,841 (GRCm39) |
R2330Q |
probably damaging |
Het |
| Lamc1 |
C |
T |
1: 153,125,392 (GRCm39) |
G597E |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,591,508 (GRCm39) |
S82C |
probably benign |
Het |
| Lgi3 |
T |
C |
14: 70,768,656 (GRCm39) |
F51S |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,447,245 (GRCm39) |
S2030P |
probably damaging |
Het |
| Map4k5 |
A |
G |
12: 69,877,201 (GRCm39) |
|
probably null |
Het |
| Mcoln2 |
C |
A |
3: 145,869,390 (GRCm39) |
R32S |
possibly damaging |
Het |
| Metap1 |
A |
T |
3: 138,168,151 (GRCm39) |
F324L |
probably damaging |
Het |
| Moxd2 |
C |
T |
6: 40,864,337 (GRCm39) |
R31H |
probably damaging |
Het |
| Ncf4 |
T |
A |
15: 78,145,234 (GRCm39) |
M274K |
possibly damaging |
Het |
| Nup205 |
T |
G |
6: 35,215,901 (GRCm39) |
V1747G |
probably benign |
Het |
| Or10d3 |
G |
A |
9: 39,461,591 (GRCm39) |
T192I |
probably benign |
Het |
| Or52r1c |
A |
G |
7: 102,735,013 (GRCm39) |
D91G |
probably benign |
Het |
| Or5ae1 |
T |
C |
7: 84,565,728 (GRCm39) |
V247A |
probably damaging |
Het |
| Pbx3 |
C |
T |
2: 34,114,568 (GRCm39) |
G122D |
probably damaging |
Het |
| Plcb3 |
A |
G |
19: 6,932,664 (GRCm39) |
F1034L |
probably benign |
Het |
| Ppp2r1a |
G |
A |
17: 21,176,236 (GRCm39) |
V153I |
probably benign |
Het |
| Prss33 |
C |
G |
17: 24,054,115 (GRCm39) |
M30I |
probably benign |
Het |
| Prss33 |
A |
T |
17: 24,054,116 (GRCm39) |
M30K |
probably benign |
Het |
| R3hdm2 |
G |
A |
10: 127,330,960 (GRCm39) |
S793N |
probably benign |
Het |
| Rab11fip5 |
C |
T |
6: 85,325,279 (GRCm39) |
V343M |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,696,522 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,363,090 (GRCm39) |
P52Q |
probably damaging |
Het |
| Scpep1 |
G |
T |
11: 88,843,260 (GRCm39) |
S66* |
probably null |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Shc3 |
A |
T |
13: 51,626,875 (GRCm39) |
H129Q |
probably damaging |
Het |
| Slc22a20 |
A |
T |
19: 6,022,970 (GRCm39) |
M391K |
probably damaging |
Het |
| Smurf1 |
A |
T |
5: 144,817,474 (GRCm39) |
I712K |
probably damaging |
Het |
| Snx25 |
T |
A |
8: 46,502,510 (GRCm39) |
I629L |
probably damaging |
Het |
| Supt16 |
A |
C |
14: 52,414,637 (GRCm39) |
V425G |
probably benign |
Het |
| Tnik |
G |
A |
3: 28,658,442 (GRCm39) |
V576I |
probably benign |
Het |
| Trcg1 |
A |
C |
9: 57,152,856 (GRCm39) |
D551A |
probably damaging |
Het |
| Ubald2 |
A |
G |
11: 116,325,178 (GRCm39) |
N15S |
probably damaging |
Het |
| Usf1 |
T |
C |
1: 171,245,317 (GRCm39) |
I243T |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,292,656 (GRCm39) |
I233F |
possibly damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,635 (GRCm39) |
N301S |
probably benign |
Het |
| Wdr27 |
A |
G |
17: 15,137,532 (GRCm39) |
F419L |
probably benign |
Het |
|
| Other mutations in Atp1a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Atp1a4
|
APN |
1 |
172,067,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00924:Atp1a4
|
APN |
1 |
172,074,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01288:Atp1a4
|
APN |
1 |
172,085,474 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01665:Atp1a4
|
APN |
1 |
172,074,291 (GRCm39) |
missense |
probably benign |
|
|
IGL02156:Atp1a4
|
APN |
1 |
172,085,529 (GRCm39) |
missense |
probably benign |
|
|
IGL02170:Atp1a4
|
APN |
1 |
172,062,103 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02228:Atp1a4
|
APN |
1 |
172,082,452 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02505:Atp1a4
|
APN |
1 |
172,062,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02653:Atp1a4
|
APN |
1 |
172,078,973 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02792:Atp1a4
|
APN |
1 |
172,054,866 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02794:Atp1a4
|
APN |
1 |
172,071,653 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03102:Atp1a4
|
APN |
1 |
172,058,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Atp1a4
|
UTSW |
1 |
172,067,664 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0046:Atp1a4
|
UTSW |
1 |
172,067,664 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0276:Atp1a4
|
UTSW |
1 |
172,085,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Atp1a4
|
UTSW |
1 |
172,062,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0525:Atp1a4
|
UTSW |
1 |
172,067,255 (GRCm39) |
splice site |
probably benign |
|
|
R0615:Atp1a4
|
UTSW |
1 |
172,059,627 (GRCm39) |
splice site |
probably benign |
|
|
R0730:Atp1a4
|
UTSW |
1 |
172,067,774 (GRCm39) |
splice site |
probably benign |
|
|
R1412:Atp1a4
|
UTSW |
1 |
172,059,576 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1898:Atp1a4
|
UTSW |
1 |
172,062,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1968:Atp1a4
|
UTSW |
1 |
172,067,731 (GRCm39) |
missense |
probably benign |
|
|
R2291:Atp1a4
|
UTSW |
1 |
172,072,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Atp1a4
|
UTSW |
1 |
172,074,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2908:Atp1a4
|
UTSW |
1 |
172,062,044 (GRCm39) |
missense |
probably benign |
|
|
R3119:Atp1a4
|
UTSW |
1 |
172,067,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3731:Atp1a4
|
UTSW |
1 |
172,061,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4447:Atp1a4
|
UTSW |
1 |
172,061,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4602:Atp1a4
|
UTSW |
1 |
172,067,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4670:Atp1a4
|
UTSW |
1 |
172,062,567 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4674:Atp1a4
|
UTSW |
1 |
172,085,223 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4675:Atp1a4
|
UTSW |
1 |
172,085,223 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4785:Atp1a4
|
UTSW |
1 |
172,081,677 (GRCm39) |
nonsense |
probably null |
|
|
R4958:Atp1a4
|
UTSW |
1 |
172,058,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Atp1a4
|
UTSW |
1 |
172,081,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5149:Atp1a4
|
UTSW |
1 |
172,059,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5234:Atp1a4
|
UTSW |
1 |
172,054,737 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5501:Atp1a4
|
UTSW |
1 |
172,074,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Atp1a4
|
UTSW |
1 |
172,081,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5872:Atp1a4
|
UTSW |
1 |
172,071,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Atp1a4
|
UTSW |
1 |
172,059,841 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6722:Atp1a4
|
UTSW |
1 |
172,085,617 (GRCm39) |
unclassified |
probably benign |
|
|
R7087:Atp1a4
|
UTSW |
1 |
172,074,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Atp1a4
|
UTSW |
1 |
172,059,503 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7381:Atp1a4
|
UTSW |
1 |
172,067,682 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7431:Atp1a4
|
UTSW |
1 |
172,078,474 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8269:Atp1a4
|
UTSW |
1 |
172,059,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8400:Atp1a4
|
UTSW |
1 |
172,062,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8559:Atp1a4
|
UTSW |
1 |
172,078,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Atp1a4
|
UTSW |
1 |
172,078,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777:Atp1a4
|
UTSW |
1 |
172,059,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777-TAIL:Atp1a4
|
UTSW |
1 |
172,059,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8867:Atp1a4
|
UTSW |
1 |
172,072,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8869:Atp1a4
|
UTSW |
1 |
172,054,690 (GRCm39) |
missense |
probably benign |
|
|
R9260:Atp1a4
|
UTSW |
1 |
172,074,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9300:Atp1a4
|
UTSW |
1 |
172,067,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9545:Atp1a4
|
UTSW |
1 |
172,078,464 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1176:Atp1a4
|
UTSW |
1 |
172,059,521 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGAGTAGACTGGTAGAATAACGCC -3'
(R):5'- GTTGTCATGCCATCTCAGAGTCCC -3'
Sequencing Primer
(F):5'- ACGCCTTTTAGGGAGCTAAAC -3'
(R):5'- tgatgatattctcagctcctacc -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation