Incidental Mutation 'IGL01288:Atp1a4'
ID |
72812 |
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 # |
IGL01288
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
172051080-172085981 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 172085474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 43
(E43G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111243]
[ENSMUST00000139528]
|
AlphaFold |
Q9WV27 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111243
AA Change: E43G
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106874 Gene: ENSMUSG00000007107 AA Change: E43G
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 |
probably benign
Transcript: ENSMUST00000139528
|
SMART Domains |
Protein: ENSMUSP00000134280 Gene: ENSMUSG00000038034
Domain | Start | End | E-Value | Type |
IG_like
|
19 |
84 |
3.66e1 |
SMART |
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
IG
|
106 |
222 |
2.3e-3 |
SMART |
IG
|
246 |
370 |
9.49e-5 |
SMART |
IG
|
382 |
508 |
3.59e-5 |
SMART |
transmembrane domain
|
515 |
537 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155363
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
G |
T |
8: 123,507,381 (GRCm39) |
|
probably benign |
Het |
Acsl3 |
G |
T |
1: 78,677,476 (GRCm39) |
W490L |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,979,858 (GRCm39) |
I381V |
possibly damaging |
Het |
Aox1 |
A |
G |
1: 58,333,566 (GRCm39) |
Y261C |
probably damaging |
Het |
Ap3m2 |
T |
C |
8: 23,293,931 (GRCm39) |
T40A |
probably benign |
Het |
Arfgef1 |
C |
T |
1: 10,283,436 (GRCm39) |
A158T |
possibly damaging |
Het |
Cog5 |
C |
T |
12: 31,936,205 (GRCm39) |
T584I |
probably benign |
Het |
Cpa1 |
G |
A |
6: 30,640,582 (GRCm39) |
V75M |
probably damaging |
Het |
Cul7 |
A |
G |
17: 46,968,733 (GRCm39) |
|
probably benign |
Het |
Dennd2b |
A |
G |
7: 109,139,029 (GRCm39) |
I668T |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,536,181 (GRCm39) |
I93T |
possibly damaging |
Het |
Dyrk2 |
T |
C |
10: 118,696,604 (GRCm39) |
Y218C |
probably damaging |
Het |
Efr3b |
T |
C |
12: 4,032,865 (GRCm39) |
Y164C |
probably damaging |
Het |
Etos1 |
C |
A |
7: 130,373,935 (GRCm39) |
|
probably benign |
Het |
Fam13a |
A |
G |
6: 58,933,712 (GRCm39) |
Y293H |
probably damaging |
Het |
Gde1 |
A |
T |
7: 118,290,863 (GRCm39) |
V154D |
possibly damaging |
Het |
Glyat |
A |
G |
19: 12,627,719 (GRCm39) |
T105A |
possibly damaging |
Het |
Il36b |
A |
T |
2: 24,049,925 (GRCm39) |
I179L |
probably benign |
Het |
Kif21b |
C |
T |
1: 136,099,922 (GRCm39) |
T1492M |
probably benign |
Het |
Kmt2d |
G |
T |
15: 98,762,925 (GRCm39) |
P282T |
probably damaging |
Het |
Lgi4 |
A |
G |
7: 30,768,468 (GRCm39) |
E489G |
probably benign |
Het |
Lipn |
A |
C |
19: 34,056,435 (GRCm39) |
E260D |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,730,864 (GRCm39) |
D2911G |
probably benign |
Het |
Nab2 |
C |
T |
10: 127,500,978 (GRCm39) |
R38Q |
probably damaging |
Het |
Or1e35 |
A |
T |
11: 73,798,139 (GRCm39) |
Y60N |
probably damaging |
Het |
Or4c1 |
A |
T |
2: 89,133,816 (GRCm39) |
V40E |
possibly damaging |
Het |
Or4p22 |
T |
A |
2: 88,317,592 (GRCm39) |
I172K |
probably damaging |
Het |
Or52i2 |
A |
G |
7: 102,319,858 (GRCm39) |
T244A |
probably damaging |
Het |
Or5t16 |
C |
A |
2: 86,818,598 (GRCm39) |
M307I |
probably benign |
Het |
Or6f2 |
T |
C |
7: 139,756,528 (GRCm39) |
L165P |
probably damaging |
Het |
Osbpl6 |
T |
C |
2: 76,395,167 (GRCm39) |
S337P |
probably damaging |
Het |
Phf8 |
T |
C |
X: 150,330,921 (GRCm39) |
|
probably null |
Het |
Pik3c2b |
C |
T |
1: 133,022,543 (GRCm39) |
H1162Y |
probably damaging |
Het |
Plek2 |
T |
C |
12: 78,941,727 (GRCm39) |
D134G |
possibly damaging |
Het |
Rnf139 |
G |
A |
15: 58,771,028 (GRCm39) |
R351H |
probably damaging |
Het |
Shld2 |
A |
T |
14: 33,981,600 (GRCm39) |
Y513N |
probably benign |
Het |
Skint5 |
T |
C |
4: 113,381,332 (GRCm39) |
|
probably benign |
Het |
Slc12a9 |
C |
T |
5: 137,329,200 (GRCm39) |
|
probably null |
Het |
Stradb |
C |
A |
1: 59,031,460 (GRCm39) |
H216N |
possibly damaging |
Het |
Tex15 |
C |
T |
8: 34,061,412 (GRCm39) |
H281Y |
probably benign |
Het |
Tg |
G |
T |
15: 66,608,125 (GRCm39) |
V237L |
possibly damaging |
Het |
Tns1 |
T |
A |
1: 73,992,969 (GRCm39) |
T570S |
probably damaging |
Het |
Tpm1 |
C |
T |
9: 66,943,337 (GRCm39) |
R105H |
probably damaging |
Het |
Wdfy3 |
G |
T |
5: 102,049,857 (GRCm39) |
|
probably null |
Het |
Zc3h12c |
A |
G |
9: 52,028,951 (GRCm39) |
|
probably benign |
Het |
Zmynd8 |
T |
A |
2: 165,654,734 (GRCm39) |
S584C |
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 |
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: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 |
2013-10-07 |