Incidental Mutation 'IGL02794:Atp1a4'
| ID |
359875 |
| 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 # |
IGL02794
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
172051080-172085981 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172071653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 481
(M481V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111243]
|
| AlphaFold |
Q9WV27 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111243
AA Change: M481V
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000106874
Gene: ENSMUSG00000007107
AA Change: M481V
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,621,385 (GRCm39) |
C1082S |
probably benign |
Het |
| Akt2 |
G |
T |
7: 27,328,806 (GRCm39) |
R176L |
probably benign |
Het |
| Aldh16a1 |
A |
G |
7: 44,795,018 (GRCm39) |
Y484H |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,969,209 (GRCm39) |
S280P |
possibly damaging |
Het |
| Atraid |
G |
A |
5: 31,210,214 (GRCm39) |
S135N |
probably damaging |
Het |
| Camta2 |
C |
T |
11: 70,566,484 (GRCm39) |
G677D |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,319,614 (GRCm39) |
N545S |
probably benign |
Het |
| Cic |
A |
G |
7: 24,985,069 (GRCm39) |
D1105G |
probably damaging |
Het |
| Crisp1 |
A |
T |
17: 40,623,957 (GRCm39) |
M4K |
unknown |
Het |
| Crnkl1 |
C |
T |
2: 145,772,532 (GRCm39) |
E182K |
possibly damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,847,847 (GRCm39) |
C114S |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,174,788 (GRCm39) |
Y496N |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,309,910 (GRCm39) |
V1528A |
probably damaging |
Het |
| Fbxl8 |
C |
T |
8: 105,994,752 (GRCm39) |
T88M |
probably benign |
Het |
| Fbxo10 |
T |
C |
4: 45,041,928 (GRCm39) |
N767S |
probably benign |
Het |
| Gm1527 |
A |
G |
3: 28,949,829 (GRCm39) |
T30A |
unknown |
Het |
| Gorasp2 |
C |
A |
2: 70,509,838 (GRCm39) |
Y166* |
probably null |
Het |
| Gucy2c |
T |
A |
6: 136,690,146 (GRCm39) |
Q744L |
probably damaging |
Het |
| Heg1 |
A |
T |
16: 33,546,992 (GRCm39) |
N593I |
probably damaging |
Het |
| Ice1 |
T |
A |
13: 70,757,278 (GRCm39) |
S236C |
possibly damaging |
Het |
| Il12b |
T |
C |
11: 44,298,808 (GRCm39) |
Y88H |
probably damaging |
Het |
| Izumo3 |
C |
T |
4: 92,035,200 (GRCm39) |
V6I |
probably benign |
Het |
| Kcna6 |
A |
G |
6: 126,715,515 (GRCm39) |
V458A |
probably damaging |
Het |
| Kif13b |
G |
A |
14: 65,040,889 (GRCm39) |
R1659Q |
probably benign |
Het |
| Klk1b1 |
A |
G |
7: 43,619,789 (GRCm39) |
D116G |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 26,917,227 (GRCm39) |
T2233A |
possibly damaging |
Het |
| Lin9 |
A |
T |
1: 180,479,444 (GRCm39) |
K59N |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,838,709 (GRCm39) |
E1083G |
probably damaging |
Het |
| Mfsd11 |
T |
A |
11: 116,750,177 (GRCm39) |
S105T |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,776,770 (GRCm39) |
I1768N |
possibly damaging |
Het |
| Mical3 |
C |
A |
6: 120,984,270 (GRCm39) |
G202V |
probably damaging |
Het |
| Mylk |
A |
T |
16: 34,806,911 (GRCm39) |
I1719F |
probably benign |
Het |
| Nusap1 |
T |
A |
2: 119,460,867 (GRCm39) |
F120Y |
possibly damaging |
Het |
| Or52e8 |
T |
A |
7: 104,624,596 (GRCm39) |
M203L |
probably benign |
Het |
| Or8b56 |
T |
A |
9: 38,739,511 (GRCm39) |
C175S |
probably damaging |
Het |
| Or8k32 |
T |
C |
2: 86,368,492 (GRCm39) |
T256A |
possibly damaging |
Het |
| Pidd1 |
T |
C |
7: 141,023,021 (GRCm39) |
Y57C |
probably benign |
Het |
| Pik3cd |
T |
A |
4: 149,739,028 (GRCm39) |
M671L |
probably benign |
Het |
| Ppp5c |
A |
G |
7: 16,740,885 (GRCm39) |
V361A |
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,096,725 (GRCm39) |
V743A |
probably benign |
Het |
| Siglec1 |
C |
A |
2: 130,917,889 (GRCm39) |
S996I |
possibly damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,957,206 (GRCm39) |
R948G |
possibly damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,948,668 (GRCm39) |
Y537* |
probably null |
Het |
| Smarca4 |
T |
A |
9: 21,584,638 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,944,760 (GRCm39) |
P1109S |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,975,070 (GRCm39) |
N513Y |
probably damaging |
Het |
| Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
T |
C |
7: 127,603,704 (GRCm39) |
C17R |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,268,785 (GRCm39) |
C1956R |
probably damaging |
Het |
| Vmn1r211 |
G |
T |
13: 23,036,379 (GRCm39) |
T96N |
possibly damaging |
Het |
| Vmn1r211 |
C |
A |
13: 23,036,376 (GRCm39) |
S97I |
probably damaging |
Het |
| Vmn1r211 |
T |
A |
13: 23,036,377 (GRCm39) |
S97C |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,623 (GRCm39) |
S596T |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,611,602 (GRCm39) |
S454P |
possibly 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 |
|
|
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 |
Incidental Mutation