Incidental Mutation 'IGL02792:Atp1a4'
ID |
359816 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atp1a4
|
Ensembl Gene |
ENSMUSG00000007107 |
Gene Name |
ATPase, Na+/K+ transporting, alpha 4 polypeptide |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02792
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
172051080-172085981 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 172054866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111243]
|
AlphaFold |
Q9WV27 |
Predicted Effect |
probably null
Transcript: ENSMUST00000111243
|
SMART Domains |
Protein: ENSMUSP00000106874 Gene: ENSMUSG00000007107
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 |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
G |
A |
17: 48,401,107 (GRCm39) |
V131M |
probably benign |
Het |
Abca6 |
A |
T |
11: 110,079,507 (GRCm39) |
C1216S |
probably damaging |
Het |
Acly |
T |
C |
11: 100,369,236 (GRCm39) |
K1018E |
probably damaging |
Het |
Acsl5 |
G |
A |
19: 55,282,163 (GRCm39) |
|
probably null |
Het |
Adgrb1 |
C |
A |
15: 74,419,471 (GRCm39) |
L771I |
probably damaging |
Het |
Adh7 |
A |
T |
3: 137,929,498 (GRCm39) |
K89I |
probably damaging |
Het |
Adora2b |
A |
T |
11: 62,156,309 (GRCm39) |
I253F |
possibly damaging |
Het |
Akna |
G |
A |
4: 63,295,943 (GRCm39) |
P975S |
possibly damaging |
Het |
Alg9 |
T |
C |
9: 50,754,048 (GRCm39) |
L576P |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,761,218 (GRCm39) |
E1023G |
possibly damaging |
Het |
Astn2 |
A |
T |
4: 65,563,058 (GRCm39) |
S908T |
probably benign |
Het |
Cabin1 |
T |
C |
10: 75,582,573 (GRCm39) |
Y281C |
probably damaging |
Het |
Cdc42bpb |
G |
T |
12: 111,265,995 (GRCm39) |
F1312L |
probably benign |
Het |
Cfap65 |
A |
C |
1: 74,966,337 (GRCm39) |
F330C |
probably damaging |
Het |
Col27a1 |
C |
T |
4: 63,233,820 (GRCm39) |
P689S |
unknown |
Het |
Col4a3 |
A |
T |
1: 82,696,524 (GRCm39) |
K1643N |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,598,460 (GRCm39) |
V1875D |
possibly damaging |
Het |
Eftud2 |
A |
G |
11: 102,761,082 (GRCm39) |
|
probably benign |
Het |
Ergic3 |
C |
A |
2: 155,859,770 (GRCm39) |
T357K |
probably damaging |
Het |
Glra1 |
A |
T |
11: 55,427,226 (GRCm39) |
D36E |
probably damaging |
Het |
Gpatch1 |
A |
G |
7: 35,001,018 (GRCm39) |
Y330H |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,236,602 (GRCm39) |
S382P |
probably damaging |
Het |
Kat6a |
G |
A |
8: 23,428,316 (GRCm39) |
E1224K |
probably damaging |
Het |
Klk13 |
A |
G |
7: 43,370,838 (GRCm39) |
E29G |
possibly damaging |
Het |
Klra9 |
T |
C |
6: 130,165,643 (GRCm39) |
D124G |
probably benign |
Het |
Lrmda |
T |
C |
14: 22,069,978 (GRCm39) |
|
probably null |
Het |
Ltbp1 |
G |
A |
17: 75,589,989 (GRCm39) |
V539M |
probably damaging |
Het |
Ngfr |
A |
C |
11: 95,462,687 (GRCm39) |
L317R |
probably damaging |
Het |
Nlrp6 |
C |
A |
7: 140,502,348 (GRCm39) |
H151Q |
probably damaging |
Het |
Nnt |
A |
G |
13: 119,494,182 (GRCm39) |
L633P |
probably damaging |
Het |
Nxpe3 |
C |
T |
16: 55,686,535 (GRCm39) |
V158M |
probably damaging |
Het |
Or11i1 |
T |
C |
3: 106,729,456 (GRCm39) |
T140A |
probably damaging |
Het |
Or2d36 |
T |
C |
7: 106,747,425 (GRCm39) |
F301L |
probably benign |
Het |
Or7g16 |
C |
T |
9: 18,727,254 (GRCm39) |
S112N |
probably benign |
Het |
Pla2g4f |
T |
C |
2: 120,133,850 (GRCm39) |
Y517C |
probably damaging |
Het |
Poc1a |
A |
T |
9: 106,172,393 (GRCm39) |
I207F |
possibly damaging |
Het |
Polr2a |
A |
G |
11: 69,636,938 (GRCm39) |
S338P |
probably damaging |
Het |
Ptprz1 |
T |
C |
6: 22,959,722 (GRCm39) |
V73A |
probably damaging |
Het |
Relb |
A |
T |
7: 19,347,789 (GRCm39) |
L281Q |
probably damaging |
Het |
Rrp8 |
A |
T |
7: 105,383,018 (GRCm39) |
L382* |
probably null |
Het |
Setd1a |
C |
T |
7: 127,390,522 (GRCm39) |
S523F |
unknown |
Het |
Slamf8 |
A |
G |
1: 172,415,697 (GRCm39) |
I47T |
probably damaging |
Het |
Slc16a4 |
G |
A |
3: 107,206,193 (GRCm39) |
A88T |
probably benign |
Het |
Sox6 |
C |
T |
7: 115,140,884 (GRCm39) |
M532I |
probably benign |
Het |
Tcp11l1 |
T |
A |
2: 104,512,165 (GRCm39) |
Y489F |
probably benign |
Het |
Tdrd6 |
T |
G |
17: 43,935,918 (GRCm39) |
D1710A |
probably benign |
Het |
Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
Vangl1 |
A |
T |
3: 102,070,739 (GRCm39) |
I399N |
probably damaging |
Het |
Vmn1r201 |
T |
C |
13: 22,659,014 (GRCm39) |
L76P |
probably damaging |
Het |
Vmn1r58 |
T |
C |
7: 5,414,228 (GRCm39) |
M1V |
probably null |
Het |
Wdfy4 |
T |
C |
14: 32,817,262 (GRCm39) |
I1561V |
probably benign |
Het |
Xkr9 |
A |
G |
1: 13,771,027 (GRCm39) |
D181G |
probably damaging |
Het |
Zfp318 |
T |
C |
17: 46,720,104 (GRCm39) |
F1101L |
probably damaging |
Het |
Zfpm2 |
C |
A |
15: 40,966,409 (GRCm39) |
Q833K |
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 |
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: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 |
|
Posted On |
2015-12-18 |