Incidental Mutation 'R7122:Atp1a4'
ID |
552047 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp1a4
|
Ensembl Gene |
ENSMUSG00000007107 |
Gene Name |
ATPase, Na+/K+ transporting, alpha 4 polypeptide |
Synonyms |
|
MMRRC Submission |
045245-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7122 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
172051080-172085981 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 172059503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 863
(Y863F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111243]
|
AlphaFold |
Q9WV27 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111243
AA Change: Y863F
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000106874 Gene: ENSMUSG00000007107 AA Change: Y863F
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 |
|
Meta Mutation Damage Score |
0.3654 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (75/76) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
T |
A |
13: 4,561,275 (GRCm39) |
E126V |
probably benign |
Het |
Alg3 |
A |
T |
16: 20,426,602 (GRCm39) |
L213H |
probably damaging |
Het |
Atp6v0e |
A |
G |
17: 26,914,390 (GRCm39) |
T72A |
probably benign |
Het |
Aup1 |
A |
G |
6: 83,032,123 (GRCm39) |
T97A |
probably benign |
Het |
Bcl6 |
T |
C |
16: 23,791,652 (GRCm39) |
D234G |
probably damaging |
Het |
Cdc42bpa |
T |
C |
1: 179,892,583 (GRCm39) |
L249P |
probably damaging |
Het |
Celsr3 |
A |
G |
9: 108,705,766 (GRCm39) |
K750E |
possibly damaging |
Het |
Ces1g |
C |
A |
8: 94,043,665 (GRCm39) |
G425C |
possibly damaging |
Het |
Chl1 |
T |
C |
6: 103,683,409 (GRCm39) |
L745P |
probably damaging |
Het |
Csmd2 |
G |
A |
4: 128,343,020 (GRCm39) |
V1471M |
|
Het |
Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
E4f1 |
G |
A |
17: 24,663,808 (GRCm39) |
Q569* |
probably null |
Het |
Efcab3 |
A |
T |
11: 104,899,787 (GRCm39) |
I4350F |
possibly damaging |
Het |
Fbxw24 |
A |
T |
9: 109,430,328 (GRCm39) |
C439S |
probably benign |
Het |
Ftdc2 |
C |
A |
16: 58,458,140 (GRCm39) |
A54S |
probably benign |
Het |
Gmip |
C |
T |
8: 70,270,452 (GRCm39) |
P721S |
probably benign |
Het |
Grip1 |
A |
G |
10: 119,871,279 (GRCm39) |
I669V |
possibly damaging |
Het |
Gsn |
A |
T |
2: 35,185,061 (GRCm39) |
K339* |
probably null |
Het |
Herc1 |
G |
T |
9: 66,307,056 (GRCm39) |
A959S |
possibly damaging |
Het |
Hic1 |
A |
G |
11: 75,060,056 (GRCm39) |
V97A |
probably benign |
Het |
Il11ra1 |
A |
G |
4: 41,766,189 (GRCm39) |
Y242C |
probably damaging |
Het |
Iqsec3 |
A |
C |
6: 121,450,317 (GRCm39) |
V69G |
unknown |
Het |
Jak3 |
T |
A |
8: 72,138,601 (GRCm39) |
M933K |
probably damaging |
Het |
Kbtbd7 |
G |
A |
14: 79,665,757 (GRCm39) |
V530I |
probably damaging |
Het |
Kif22 |
G |
A |
7: 126,632,150 (GRCm39) |
R345C |
probably benign |
Het |
Klhl7 |
G |
A |
5: 24,343,433 (GRCm39) |
E250K |
probably damaging |
Het |
Klk1b4 |
A |
G |
7: 43,860,531 (GRCm39) |
H183R |
probably damaging |
Het |
Lhfpl4 |
C |
T |
6: 113,153,632 (GRCm39) |
V140I |
probably benign |
Het |
Lhx5 |
T |
A |
5: 120,574,410 (GRCm39) |
M238K |
probably benign |
Het |
Lin28b |
A |
T |
10: 45,345,244 (GRCm39) |
H27Q |
probably benign |
Het |
Mgat4c |
A |
T |
10: 102,214,070 (GRCm39) |
R18* |
probably null |
Het |
Myct1 |
C |
A |
10: 5,554,492 (GRCm39) |
H120N |
probably damaging |
Het |
Nek1 |
A |
T |
8: 61,559,829 (GRCm39) |
D984V |
probably benign |
Het |
Nfu1 |
A |
T |
6: 86,986,863 (GRCm39) |
|
probably benign |
Het |
Nipsnap1 |
A |
T |
11: 4,833,366 (GRCm39) |
|
probably null |
Het |
Nlrp9c |
A |
G |
7: 26,085,046 (GRCm39) |
Y178H |
probably damaging |
Het |
Nrxn3 |
T |
A |
12: 89,477,377 (GRCm39) |
M520K |
probably damaging |
Het |
Oacyl |
A |
G |
18: 65,853,323 (GRCm39) |
D143G |
probably benign |
Het |
Obox5 |
A |
G |
7: 15,492,732 (GRCm39) |
Y229C |
probably damaging |
Het |
Or1j12 |
A |
G |
2: 36,342,702 (GRCm39) |
Y35C |
probably damaging |
Het |
Or1j18 |
G |
A |
2: 36,624,436 (GRCm39) |
M34I |
probably benign |
Het |
Or2a5 |
T |
C |
6: 42,874,024 (GRCm39) |
V213A |
probably damaging |
Het |
Or52n5 |
T |
C |
7: 104,588,405 (GRCm39) |
L224P |
probably damaging |
Het |
Otogl |
C |
T |
10: 107,702,515 (GRCm39) |
A713T |
probably benign |
Het |
Pcdhb17 |
A |
C |
18: 37,619,566 (GRCm39) |
N452T |
probably benign |
Het |
Pi16 |
A |
G |
17: 29,545,313 (GRCm39) |
Y192C |
probably damaging |
Het |
Pla2g5 |
T |
C |
4: 138,531,830 (GRCm39) |
D58G |
probably damaging |
Het |
Plpp4 |
G |
T |
7: 128,981,207 (GRCm39) |
V153F |
unknown |
Het |
Plxna2 |
C |
A |
1: 194,326,876 (GRCm39) |
S270* |
probably null |
Het |
Pole |
T |
A |
5: 110,472,968 (GRCm39) |
|
probably null |
Het |
Prmt7 |
T |
C |
8: 106,961,732 (GRCm39) |
F215S |
unknown |
Het |
Ptpn21 |
C |
T |
12: 98,655,171 (GRCm39) |
V599I |
probably damaging |
Het |
Rab26 |
C |
A |
17: 24,749,652 (GRCm39) |
R131L |
probably damaging |
Het |
Raph1 |
A |
T |
1: 60,565,136 (GRCm39) |
V117D |
probably benign |
Het |
Sacs |
T |
C |
14: 61,447,845 (GRCm39) |
V3297A |
probably damaging |
Het |
Serpine1 |
C |
A |
5: 137,095,796 (GRCm39) |
A262S |
probably benign |
Het |
Sgf29 |
A |
G |
7: 126,271,221 (GRCm39) |
D193G |
probably null |
Het |
Sh3rf2 |
G |
A |
18: 42,237,227 (GRCm39) |
|
probably null |
Het |
Sipa1l1 |
T |
C |
12: 82,469,236 (GRCm39) |
V1245A |
possibly damaging |
Het |
Slc22a7 |
A |
G |
17: 46,749,224 (GRCm39) |
L31P |
probably damaging |
Het |
Slc24a5 |
G |
A |
2: 124,930,111 (GRCm39) |
V471I |
probably benign |
Het |
Slc26a7 |
A |
T |
4: 14,533,639 (GRCm39) |
Y395N |
probably damaging |
Het |
Slc38a2 |
T |
C |
15: 96,591,182 (GRCm39) |
M229V |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Susd1 |
G |
A |
4: 59,411,318 (GRCm39) |
R225* |
probably null |
Het |
Suz12 |
T |
A |
11: 79,884,419 (GRCm39) |
F92I |
probably damaging |
Het |
Tmem114 |
C |
A |
16: 8,242,610 (GRCm39) |
|
probably benign |
Het |
Tmem68 |
A |
G |
4: 3,564,107 (GRCm39) |
V159A |
probably benign |
Het |
Tpra1 |
T |
A |
6: 88,885,276 (GRCm39) |
I76N |
probably damaging |
Het |
Trim45 |
A |
G |
3: 100,839,353 (GRCm39) |
T752A |
unknown |
Het |
Trp63 |
C |
A |
16: 25,639,227 (GRCm39) |
H138Q |
probably damaging |
Het |
Ugt2a2 |
T |
C |
5: 87,608,255 (GRCm39) |
D528G |
possibly damaging |
Het |
Vmn2r39 |
T |
G |
7: 9,017,761 (GRCm39) |
K858N |
possibly damaging |
Het |
Zfp629 |
A |
T |
7: 127,210,484 (GRCm39) |
S442T |
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 |
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 |
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'- ATATGGGAAGGGGCACTGTC -3'
(R):5'- AGCTCTAGAGTGTCTTCTGAACCC -3'
Sequencing Primer
(F):5'- AAGGGGCACTGTCACTTTATG -3'
(R):5'- AGTGTCTTCTGAACCCCGCATAC -3'
|
Posted On |
2019-05-15 |