Incidental Mutation 'R0615:Atp1a4'
ID |
54988 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp1a4
|
Ensembl Gene |
ENSMUSG00000007107 |
Gene Name |
ATPase, Na+/K+ transporting, alpha 4 polypeptide |
Synonyms |
|
MMRRC Submission |
038804-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0615 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
172051080-172085981 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 172059627 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 benign
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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
100% (57/57) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933411K16Rik |
T |
C |
19: 42,040,962 (GRCm39) |
I31T |
possibly damaging |
Het |
Abca13 |
A |
G |
11: 9,206,197 (GRCm39) |
I166V |
probably damaging |
Het |
Acaa2 |
G |
T |
18: 74,931,517 (GRCm39) |
V238L |
probably benign |
Het |
Ahsg |
A |
T |
16: 22,717,805 (GRCm39) |
I296F |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,415,027 (GRCm39) |
V1436D |
probably damaging |
Het |
Ate1 |
A |
T |
7: 130,115,563 (GRCm39) |
|
probably benign |
Het |
Atosa |
T |
A |
9: 74,911,570 (GRCm39) |
Y14N |
probably damaging |
Het |
Aurkc |
A |
T |
7: 7,005,402 (GRCm39) |
I223L |
possibly damaging |
Het |
Bckdha |
G |
T |
7: 25,341,210 (GRCm39) |
D50E |
probably benign |
Het |
Brf2 |
C |
T |
8: 27,614,059 (GRCm39) |
E376K |
probably benign |
Het |
Cdk9 |
C |
A |
2: 32,599,813 (GRCm39) |
L141F |
possibly damaging |
Het |
Cgn |
A |
C |
3: 94,678,024 (GRCm39) |
|
probably benign |
Het |
Clcn1 |
G |
A |
6: 42,282,509 (GRCm39) |
V526I |
probably damaging |
Het |
Cnot2 |
A |
G |
10: 116,334,141 (GRCm39) |
V343A |
possibly damaging |
Het |
Commd2 |
A |
T |
3: 57,554,116 (GRCm39) |
V195D |
possibly damaging |
Het |
Cubn |
C |
T |
2: 13,365,063 (GRCm39) |
|
probably null |
Het |
Eif2ak4 |
C |
T |
2: 118,266,666 (GRCm39) |
T729M |
probably damaging |
Het |
Elac1 |
A |
T |
18: 73,871,954 (GRCm39) |
V347E |
probably damaging |
Het |
Fam209 |
T |
C |
2: 172,316,053 (GRCm39) |
S143P |
probably benign |
Het |
Fam20c |
G |
A |
5: 138,793,241 (GRCm39) |
R454Q |
probably damaging |
Het |
Faxc |
C |
T |
4: 21,958,608 (GRCm39) |
S255L |
probably benign |
Het |
Fem1al |
C |
A |
11: 29,774,515 (GRCm39) |
R314L |
probably damaging |
Het |
Foxj1 |
T |
C |
11: 116,224,908 (GRCm39) |
D153G |
possibly damaging |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Lmo7 |
T |
A |
14: 102,114,295 (GRCm39) |
Y12* |
probably null |
Het |
Matn3 |
T |
G |
12: 9,013,594 (GRCm39) |
C425W |
probably damaging |
Het |
Mmd2 |
A |
T |
5: 142,550,668 (GRCm39) |
M190K |
probably benign |
Het |
Morn2 |
A |
T |
17: 80,603,026 (GRCm39) |
T102S |
probably damaging |
Het |
Nr3c2 |
A |
C |
8: 77,912,518 (GRCm39) |
T710P |
probably benign |
Het |
Nrros |
C |
A |
16: 31,962,903 (GRCm39) |
L343F |
probably damaging |
Het |
Ntrk2 |
C |
T |
13: 59,276,000 (GRCm39) |
Q767* |
probably null |
Het |
Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
Or4k47 |
C |
T |
2: 111,452,264 (GRCm39) |
D52N |
possibly damaging |
Het |
Plekhf2 |
C |
T |
4: 10,991,330 (GRCm39) |
R4H |
probably benign |
Het |
Ppox |
A |
G |
1: 171,105,387 (GRCm39) |
|
probably benign |
Het |
Qprt |
T |
A |
7: 126,708,248 (GRCm39) |
D61V |
probably damaging |
Het |
Reln |
A |
G |
5: 22,215,148 (GRCm39) |
V1101A |
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,548,202 (GRCm39) |
N124D |
probably damaging |
Het |
Scx |
C |
T |
15: 76,342,295 (GRCm39) |
P165L |
probably benign |
Het |
Sema6d |
T |
C |
2: 124,496,055 (GRCm39) |
|
probably benign |
Het |
Serf2 |
T |
C |
2: 121,281,336 (GRCm39) |
F92L |
probably benign |
Het |
Synpo2 |
A |
T |
3: 122,910,936 (GRCm39) |
N236K |
probably damaging |
Het |
Tbc1d32 |
C |
A |
10: 56,100,736 (GRCm39) |
D81Y |
probably benign |
Het |
Terf2 |
G |
A |
8: 107,809,622 (GRCm39) |
T232I |
possibly damaging |
Het |
Tpd52l2 |
A |
G |
2: 181,143,744 (GRCm39) |
E50G |
probably damaging |
Het |
Tprn |
A |
G |
2: 25,154,210 (GRCm39) |
E504G |
probably damaging |
Het |
Tufm |
G |
T |
7: 126,086,654 (GRCm39) |
R12L |
probably benign |
Het |
Vmn2r8 |
A |
G |
5: 108,947,195 (GRCm39) |
F519S |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,145,590 (GRCm39) |
V89A |
probably benign |
Het |
Wnt3 |
T |
C |
11: 103,703,207 (GRCm39) |
I230T |
possibly damaging |
Het |
Zan |
A |
T |
5: 137,466,693 (GRCm39) |
F388Y |
probably damaging |
Het |
Zfp474 |
C |
T |
18: 52,771,421 (GRCm39) |
L25F |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCACATATGGGAAGGGGCACTG -3'
(R):5'- GGGCACCATAACCATTCTCTGCATC -3'
Sequencing Primer
(F):5'- CCCTGACTTCTAAACAGAGGTG -3'
(R):5'- ATCGACCTGGGCACTGAC -3'
|
Posted On |
2013-07-11 |