Incidental Mutation 'IGL02653:Atp1a4'
| ID |
302223 |
| 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 # |
IGL02653
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
172051080-172085981 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 172078973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 182
(I182F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111243]
|
| AlphaFold |
Q9WV27 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111243
AA Change: I182F
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106874
Gene: ENSMUSG00000007107
AA Change: I182F
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,765,191 (GRCm39) |
|
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,392,438 (GRCm39) |
H361L |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,185,583 (GRCm39) |
N3S |
probably damaging |
Het |
| Cby2 |
T |
C |
14: 75,820,597 (GRCm39) |
D385G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 76,957,760 (GRCm39) |
D496E |
probably benign |
Het |
| Cyp3a25 |
G |
T |
5: 145,939,920 (GRCm39) |
S29Y |
possibly damaging |
Het |
| Dglucy |
G |
A |
12: 100,837,690 (GRCm39) |
G611D |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,022,848 (GRCm39) |
K622E |
probably damaging |
Het |
| Esyt1 |
T |
A |
10: 128,346,877 (GRCm39) |
I1071L |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,209,777 (GRCm39) |
K1035E |
probably benign |
Het |
| Frem1 |
T |
G |
4: 82,877,571 (GRCm39) |
E1335D |
probably benign |
Het |
| Gm5900 |
A |
G |
7: 104,599,340 (GRCm39) |
|
noncoding transcript |
Het |
| Ikbke |
T |
A |
1: 131,199,572 (GRCm39) |
Q283L |
possibly damaging |
Het |
| Lepr |
A |
T |
4: 101,622,141 (GRCm39) |
I358F |
probably benign |
Het |
| Lnpk |
A |
G |
2: 74,378,392 (GRCm39) |
V123A |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 70,916,357 (GRCm39) |
K130R |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,389,526 (GRCm39) |
|
probably null |
Het |
| Npy6r |
T |
C |
18: 44,409,694 (GRCm39) |
*372Q |
probably null |
Het |
| Polr3d |
T |
C |
14: 70,677,557 (GRCm39) |
D273G |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,088,892 (GRCm39) |
V477A |
probably benign |
Het |
| Prpf19 |
T |
A |
19: 10,880,328 (GRCm39) |
|
probably benign |
Het |
| Ptgr3 |
T |
C |
18: 84,113,443 (GRCm39) |
V373A |
possibly damaging |
Het |
| Pwwp2a |
A |
G |
11: 43,596,862 (GRCm39) |
T676A |
possibly damaging |
Het |
| Ralgapb |
T |
A |
2: 158,285,229 (GRCm39) |
I242N |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,291,531 (GRCm39) |
S1738R |
probably damaging |
Het |
| Snapc1 |
C |
A |
12: 74,029,261 (GRCm39) |
P348Q |
probably benign |
Het |
| Tbc1d7 |
T |
C |
13: 43,318,874 (GRCm39) |
I88V |
probably benign |
Het |
| Tnks2 |
T |
C |
19: 36,849,851 (GRCm39) |
S220P |
probably damaging |
Het |
| Trim56 |
A |
T |
5: 137,141,760 (GRCm39) |
S585R |
probably damaging |
Het |
| Trpm2 |
T |
G |
10: 77,748,503 (GRCm39) |
E1389A |
probably benign |
Het |
| Tspear |
T |
A |
10: 77,542,799 (GRCm39) |
|
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,500 (GRCm39) |
I221T |
probably damaging |
Het |
| Vmn1r204 |
A |
C |
13: 22,740,800 (GRCm39) |
I144L |
probably benign |
Het |
| Vmn2r20 |
A |
T |
6: 123,362,324 (GRCm39) |
I820N |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,214,646 (GRCm39) |
|
probably benign |
Het |
| Wnt1 |
G |
A |
15: 98,690,336 (GRCm39) |
G222R |
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 |
|
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: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 |
2015-04-16 |
Incidental Mutation