Incidental Mutation 'R5501:Atp1a4'
ID |
430592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp1a4
|
Ensembl Gene |
ENSMUSG00000007107 |
Gene Name |
ATPase, Na+/K+ transporting, alpha 4 polypeptide |
Synonyms |
|
MMRRC Submission |
043062-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5501 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
172051080-172085981 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 172074399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 285
(S285P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111243]
|
AlphaFold |
Q9WV27 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111243
AA Change: S285P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106874 Gene: ENSMUSG00000007107 AA Change: S285P
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: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.3%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
C |
8: 44,022,941 (GRCm39) |
L183* |
probably null |
Het |
Alox12e |
G |
T |
11: 70,207,055 (GRCm39) |
Q584K |
probably benign |
Het |
Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
Col25a1 |
A |
G |
3: 130,389,312 (GRCm39) |
T632A |
probably benign |
Het |
Coro6 |
T |
C |
11: 77,358,622 (GRCm39) |
F227S |
probably damaging |
Het |
Diras2 |
C |
T |
13: 52,661,786 (GRCm39) |
V174M |
probably benign |
Het |
Dop1a |
A |
G |
9: 86,389,783 (GRCm39) |
D569G |
probably benign |
Het |
Dync1li2 |
A |
G |
8: 105,167,104 (GRCm39) |
|
probably null |
Het |
Dysf |
T |
C |
6: 84,064,800 (GRCm39) |
V508A |
probably damaging |
Het |
Edem1 |
T |
C |
6: 108,820,061 (GRCm39) |
|
probably null |
Het |
Eef2k |
A |
G |
7: 120,488,471 (GRCm39) |
D452G |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,225,565 (GRCm39) |
R1539G |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 38,941,364 (GRCm39) |
S86G |
probably benign |
Het |
Hpgd |
A |
T |
8: 56,751,391 (GRCm39) |
D73V |
probably benign |
Het |
Ltb4r1 |
A |
G |
14: 56,005,539 (GRCm39) |
N281D |
probably damaging |
Het |
Map7 |
T |
C |
10: 20,151,948 (GRCm39) |
S638P |
unknown |
Het |
Mical1 |
G |
A |
10: 41,362,075 (GRCm39) |
A934T |
probably benign |
Het |
Micu3 |
C |
A |
8: 40,807,341 (GRCm39) |
|
probably null |
Het |
Mmp24 |
T |
A |
2: 155,640,056 (GRCm39) |
Y129N |
probably damaging |
Het |
Mras |
A |
T |
9: 99,293,599 (GRCm39) |
Y14N |
probably damaging |
Het |
Msmo1 |
A |
T |
8: 65,175,523 (GRCm39) |
I169N |
probably damaging |
Het |
Mtrr |
G |
T |
13: 68,727,766 (GRCm39) |
T60K |
probably damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,230 (GRCm39) |
L180* |
probably null |
Het |
Or5p6 |
G |
T |
7: 107,631,360 (GRCm39) |
Y63* |
probably null |
Het |
Or7g30 |
T |
A |
9: 19,352,290 (GRCm39) |
I27N |
possibly damaging |
Het |
Pam |
A |
T |
1: 97,768,090 (GRCm39) |
C8* |
probably null |
Het |
Phrf1 |
T |
G |
7: 140,839,834 (GRCm39) |
S1169A |
possibly damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,792,569 (GRCm39) |
T408A |
probably damaging |
Het |
Plch1 |
G |
T |
3: 63,615,162 (GRCm39) |
Q778K |
probably damaging |
Het |
Ppp1r3a |
A |
G |
6: 14,719,417 (GRCm39) |
V499A |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Ryr3 |
C |
A |
2: 112,492,849 (GRCm39) |
S3736I |
possibly damaging |
Het |
Serpinb13 |
T |
C |
1: 106,909,915 (GRCm39) |
F11L |
possibly damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Smcp |
A |
G |
3: 92,491,731 (GRCm39) |
C39R |
unknown |
Het |
Sox9 |
T |
A |
11: 112,674,685 (GRCm39) |
L161Q |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,805,811 (GRCm39) |
|
probably null |
Het |
Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
Tmem131l |
G |
T |
3: 83,833,435 (GRCm39) |
N809K |
probably damaging |
Het |
Tyk2 |
T |
C |
9: 21,032,908 (GRCm39) |
Y285C |
probably damaging |
Het |
Usp15 |
T |
A |
10: 123,011,804 (GRCm39) |
N98Y |
probably damaging |
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 |
R1652:Atp1a4
|
UTSW |
1 |
172,082,470 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GTTTACTCACAGTGACAGTGGCC -3'
(R):5'- AAGTGTCAGGAACCTACCATG -3'
Sequencing Primer
(F):5'- CAGTGACAGTGGCCAGCAG -3'
(R):5'- GATTCTCCTAGCAAAACAACCAAAAG -3'
|
Posted On |
2016-10-05 |