Incidental Mutation 'R8777:Atp1a4'
| ID |
664722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1a4
|
| Ensembl Gene |
ENSMUSG00000007107 |
| Gene Name |
ATPase, Na+/K+ transporting, alpha 4 polypeptide |
| Synonyms |
|
| MMRRC Submission |
068720-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8777 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
172051080-172085981 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 172059869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 787
(Y787N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111243]
|
| AlphaFold |
Q9WV27 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111243
AA Change: Y787N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106874
Gene: ENSMUSG00000007107
AA Change: Y787N
| 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 |
|
| 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 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,989,894 (GRCm39) |
T816S |
probably benign |
Het |
| Aff4 |
G |
A |
11: 53,290,783 (GRCm39) |
S581N |
probably damaging |
Het |
| Aimp2 |
G |
A |
5: 143,839,825 (GRCm39) |
A253V |
probably damaging |
Het |
| Arl6ip4 |
T |
G |
5: 124,254,611 (GRCm39) |
S35A |
probably benign |
Het |
| Btbd8 |
T |
G |
5: 107,658,293 (GRCm39) |
I1621R |
probably damaging |
Het |
| Ccdc169 |
T |
C |
3: 55,058,334 (GRCm39) |
S13P |
probably damaging |
Het |
| Ccdc186 |
G |
A |
19: 56,801,793 (GRCm39) |
S108F |
probably damaging |
Het |
| Ccdc39 |
G |
A |
3: 33,893,282 (GRCm39) |
T101I |
probably benign |
Het |
| Cdh13 |
G |
T |
8: 119,963,706 (GRCm39) |
|
probably null |
Het |
| Clec1b |
A |
T |
6: 129,380,537 (GRCm39) |
E151V |
probably benign |
Het |
| Cplx1 |
T |
A |
5: 108,673,435 (GRCm39) |
|
probably null |
Het |
| Diablo |
T |
A |
5: 123,655,990 (GRCm39) |
I150F |
unknown |
Het |
| Esp31 |
T |
C |
17: 38,955,582 (GRCm39) |
V75A |
probably benign |
Het |
| Gm49336 |
G |
A |
14: 60,466,185 (GRCm39) |
L458F |
probably damaging |
Het |
| Grin3b |
A |
T |
10: 79,808,972 (GRCm39) |
S241C |
possibly damaging |
Het |
| Gxylt2 |
A |
G |
6: 100,727,432 (GRCm39) |
N182S |
probably damaging |
Het |
| Hephl1 |
T |
G |
9: 14,972,090 (GRCm39) |
D950A |
probably benign |
Het |
| Hkdc1 |
A |
G |
10: 62,234,612 (GRCm39) |
I556T |
possibly damaging |
Het |
| Ints4 |
C |
A |
7: 97,134,227 (GRCm39) |
A53D |
probably damaging |
Het |
| Kmt5c |
T |
C |
7: 4,745,712 (GRCm39) |
V124A |
possibly damaging |
Het |
| Lrpprc |
T |
A |
17: 85,058,657 (GRCm39) |
Q734H |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,304 (GRCm39) |
T1806A |
unknown |
Het |
| Mcmbp |
A |
T |
7: 128,308,855 (GRCm39) |
F389I |
probably damaging |
Het |
| Mcrs1 |
C |
T |
15: 99,141,237 (GRCm39) |
G422S |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,632,185 (GRCm39) |
H173R |
probably damaging |
Het |
| Mib1 |
G |
A |
18: 10,747,422 (GRCm39) |
G200S |
probably benign |
Het |
| Myh13 |
A |
T |
11: 67,252,161 (GRCm39) |
Q1423L |
possibly damaging |
Het |
| Myh2 |
A |
G |
11: 67,083,398 (GRCm39) |
R1454G |
possibly damaging |
Het |
| Mylk4 |
C |
T |
13: 32,913,089 (GRCm39) |
V70I |
probably benign |
Het |
| Myof |
A |
G |
19: 37,968,841 (GRCm39) |
V358A |
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,324,492 (GRCm39) |
I48F |
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,324,494 (GRCm39) |
H47L |
probably damaging |
Het |
| Neurog2 |
G |
T |
3: 127,427,742 (GRCm39) |
R122L |
probably damaging |
Het |
| Npdc1 |
T |
A |
2: 25,298,129 (GRCm39) |
L193Q |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,227,234 (GRCm39) |
N290D |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,109,120 (GRCm39) |
M1409T |
probably benign |
Het |
| Oas1h |
T |
C |
5: 121,005,107 (GRCm39) |
L185P |
probably damaging |
Het |
| Or10x4 |
A |
T |
1: 174,218,848 (GRCm39) |
Y71F |
probably damaging |
Het |
| Or2z2 |
C |
T |
11: 58,346,757 (GRCm39) |
W6* |
probably null |
Het |
| Or6c3 |
T |
A |
10: 129,309,374 (GRCm39) |
V271E |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,128,974 (GRCm39) |
N853K |
probably benign |
Het |
| Pcsk4 |
G |
T |
10: 80,159,557 (GRCm39) |
P405Q |
probably benign |
Het |
| Piwil4 |
A |
C |
9: 14,650,685 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,967 (GRCm39) |
Y547H |
probably damaging |
Het |
| Pramel40 |
A |
G |
5: 94,465,027 (GRCm39) |
D471G |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,382,156 (GRCm39) |
L51P |
probably damaging |
Het |
| Rufy2 |
T |
G |
10: 62,833,660 (GRCm39) |
L241V |
possibly damaging |
Het |
| Slc5a5 |
T |
C |
8: 71,343,934 (GRCm39) |
I155V |
possibly damaging |
Het |
| Slc7a2 |
T |
G |
8: 41,351,991 (GRCm39) |
M18R |
probably damaging |
Het |
| Snapc4 |
A |
G |
2: 26,259,375 (GRCm39) |
S592P |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,550,533 (GRCm39) |
W86R |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,545,244 (GRCm39) |
N2457S |
probably damaging |
Het |
| Tent4a |
T |
A |
13: 69,658,824 (GRCm39) |
D337V |
probably damaging |
Het |
| Timd4 |
C |
A |
11: 46,706,309 (GRCm39) |
T37N |
possibly damaging |
Het |
| Tmem268 |
T |
A |
4: 63,496,076 (GRCm39) |
N172K |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,773,949 (GRCm39) |
V2855D |
probably benign |
Het |
| Tubb6 |
A |
T |
18: 67,534,598 (GRCm39) |
T166S |
probably damaging |
Het |
| Tufm |
A |
G |
7: 126,088,034 (GRCm39) |
Y179C |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,933,597 (GRCm39) |
N1302D |
probably benign |
Het |
| Ube2r2 |
C |
T |
4: 41,190,715 (GRCm39) |
S203L |
possibly damaging |
Het |
| Vldlr |
G |
T |
19: 27,217,946 (GRCm39) |
V465L |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Vmn2r42 |
A |
G |
7: 8,195,692 (GRCm39) |
F485L |
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 |
|
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 |
|
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-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'- CCTACACTCGATGGATCAGATCG -3'
(R):5'- TGACAGGCACACAGTTTGC -3'
Sequencing Primer
(F):5'- TGGATCAGATCGTAGGAATCCCC -3'
(R):5'- GTTTGCAGAGAAATCACAGGCCC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation