Incidental Mutation 'R2897:Atp1a4'
ID |
260822 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp1a4
|
Ensembl Gene |
ENSMUSG00000007107 |
Gene Name |
ATPase, Na+/K+ transporting, alpha 4 polypeptide |
Synonyms |
|
MMRRC Submission |
040485-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2897 (G1)
|
Quality Score |
194 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
172051080-172085981 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 172074257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 332
(I332N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111243]
|
AlphaFold |
Q9WV27 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111243
AA Change: I332N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106874 Gene: ENSMUSG00000007107 AA Change: I332N
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
|
Meta Mutation Damage Score |
0.7195 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
99% (72/73) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,471,640 (GRCm39) |
V1015A |
probably benign |
Het |
4930480E11Rik |
C |
T |
X: 77,413,868 (GRCm39) |
Q198* |
probably null |
Het |
Acap3 |
G |
C |
4: 155,989,388 (GRCm39) |
|
probably null |
Het |
Adamts14 |
T |
C |
10: 61,040,689 (GRCm39) |
D879G |
probably damaging |
Het |
Akap1 |
A |
T |
11: 88,735,605 (GRCm39) |
C352* |
probably null |
Het |
Ankk1 |
T |
A |
9: 49,333,122 (GRCm39) |
T121S |
probably benign |
Het |
Ankrd6 |
T |
C |
4: 32,860,438 (GRCm39) |
S2G |
probably damaging |
Het |
Anks1 |
G |
T |
17: 28,204,337 (GRCm39) |
|
probably null |
Het |
Apob |
G |
A |
12: 8,060,356 (GRCm39) |
G2946D |
probably damaging |
Het |
Atm |
A |
C |
9: 53,419,105 (GRCm39) |
C782W |
probably damaging |
Het |
Bnc2 |
T |
C |
4: 84,211,152 (GRCm39) |
I406V |
probably damaging |
Het |
Cdh20 |
A |
T |
1: 104,875,199 (GRCm39) |
D327V |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,988,341 (GRCm39) |
|
probably null |
Het |
Chd5 |
T |
C |
4: 152,456,572 (GRCm39) |
F970L |
probably damaging |
Het |
Coq9 |
T |
C |
8: 95,579,752 (GRCm39) |
Y236H |
probably damaging |
Het |
Csn1s2a |
A |
G |
5: 87,929,680 (GRCm39) |
H93R |
unknown |
Het |
Cxcr2 |
T |
C |
1: 74,198,130 (GRCm39) |
V208A |
probably benign |
Het |
Cyp1b1 |
G |
A |
17: 80,021,160 (GRCm39) |
T194M |
probably benign |
Het |
Dbt |
T |
A |
3: 116,317,061 (GRCm39) |
V79E |
probably damaging |
Het |
Dcx |
A |
G |
X: 142,706,428 (GRCm39) |
|
probably benign |
Het |
Dnm3 |
G |
A |
1: 162,113,643 (GRCm39) |
|
probably benign |
Het |
Erbin |
C |
T |
13: 104,022,705 (GRCm39) |
E45K |
probably damaging |
Het |
Fastkd1 |
A |
G |
2: 69,532,960 (GRCm39) |
L469P |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm10271 |
A |
G |
10: 116,808,495 (GRCm39) |
L7S |
probably damaging |
Het |
Gm5087 |
T |
C |
14: 13,158,805 (GRCm38) |
|
noncoding transcript |
Het |
Hid1 |
A |
G |
11: 115,241,356 (GRCm39) |
S645P |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,678,624 (GRCm39) |
C499Y |
probably damaging |
Het |
Ifna1 |
C |
A |
4: 88,768,450 (GRCm39) |
Q43K |
probably benign |
Het |
Ikbkb |
G |
T |
8: 23,159,693 (GRCm39) |
Q432K |
possibly damaging |
Het |
Inpp4a |
A |
T |
1: 37,405,675 (GRCm39) |
H148L |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,074,839 (GRCm39) |
R2338Q |
probably benign |
Het |
Itpr2 |
A |
T |
6: 146,224,667 (GRCm39) |
I1441N |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,855,541 (GRCm39) |
R757G |
probably benign |
Het |
Lmx1a |
T |
A |
1: 167,658,109 (GRCm39) |
|
probably benign |
Het |
Lpxn |
T |
A |
19: 12,796,722 (GRCm39) |
S81T |
probably benign |
Het |
Lrriq1 |
T |
C |
10: 103,063,111 (GRCm39) |
N65S |
probably damaging |
Het |
Mis18bp1 |
T |
C |
12: 65,180,360 (GRCm39) |
D981G |
probably benign |
Het |
Mpp4 |
T |
C |
1: 59,183,853 (GRCm39) |
I296V |
probably benign |
Het |
Mtrf1l |
T |
C |
10: 5,767,565 (GRCm39) |
R184G |
probably benign |
Het |
Muc19 |
T |
C |
15: 91,822,550 (GRCm39) |
|
noncoding transcript |
Het |
Myo6 |
T |
A |
9: 80,176,893 (GRCm39) |
|
probably null |
Het |
Myom1 |
A |
G |
17: 71,408,215 (GRCm39) |
|
probably benign |
Het |
Ndrg4 |
A |
G |
8: 96,405,014 (GRCm39) |
|
probably null |
Het |
Neu2 |
A |
G |
1: 87,522,782 (GRCm39) |
S72G |
probably benign |
Het |
Nlrc4 |
T |
A |
17: 74,755,040 (GRCm39) |
M59L |
probably benign |
Het |
Nuak2 |
A |
T |
1: 132,252,791 (GRCm39) |
H115L |
probably damaging |
Het |
Oog1 |
T |
A |
12: 87,655,178 (GRCm39) |
I272K |
probably damaging |
Het |
Or10aa1 |
T |
C |
1: 173,869,699 (GRCm39) |
F61S |
probably damaging |
Het |
Or52a20 |
A |
T |
7: 103,366,749 (GRCm39) |
Y316F |
probably benign |
Het |
Pcdhb1 |
A |
G |
18: 37,399,516 (GRCm39) |
Y489C |
probably damaging |
Het |
Pde5a |
T |
C |
3: 122,572,651 (GRCm39) |
I344T |
probably benign |
Het |
Pip5kl1 |
C |
A |
2: 32,473,359 (GRCm39) |
A332D |
probably benign |
Het |
Pja1 |
T |
C |
X: 98,510,754 (GRCm39) |
E385G |
probably benign |
Het |
Psma6 |
A |
T |
12: 55,454,829 (GRCm39) |
I53L |
probably benign |
Het |
Ric8b |
T |
G |
10: 84,783,761 (GRCm39) |
D206E |
probably benign |
Het |
Sardh |
T |
C |
2: 27,079,559 (GRCm39) |
D911G |
probably benign |
Het |
Serpinb8 |
A |
G |
1: 107,534,776 (GRCm39) |
T32A |
unknown |
Het |
Shroom2 |
G |
T |
X: 151,443,035 (GRCm39) |
T710K |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc38a7 |
A |
G |
8: 96,572,424 (GRCm39) |
|
probably benign |
Het |
Stk36 |
T |
A |
1: 74,671,984 (GRCm39) |
S895T |
probably null |
Het |
Sycp3 |
G |
A |
10: 88,308,544 (GRCm39) |
E205K |
possibly damaging |
Het |
Tbc1d16 |
A |
T |
11: 119,048,654 (GRCm39) |
I333N |
probably damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Tmeff1 |
T |
A |
4: 48,658,831 (GRCm39) |
Y101* |
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,549,500 (GRCm39) |
T23399S |
probably damaging |
Het |
Vipas39 |
A |
G |
12: 87,289,297 (GRCm39) |
V389A |
possibly damaging |
Het |
Vps41 |
T |
C |
13: 18,994,598 (GRCm39) |
|
probably benign |
Het |
Zfp329 |
A |
T |
7: 12,544,413 (GRCm39) |
H370Q |
probably damaging |
Het |
Zfp37 |
C |
T |
4: 62,110,014 (GRCm39) |
G350D |
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 |
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'- TCTGACGCTTCTATGTATCTCAGG -3'
(R):5'- GAACAGCTCGGGGTATTGTG -3'
Sequencing Primer
(F):5'- GGATACCCCTCACTTCAGATG -3'
(R):5'- TGTGATTGCTACAGGAGACTACAC -3'
|
Posted On |
2015-01-23 |