Incidental Mutation 'R4602:Atp1a4'
| ID |
345685 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4602 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
172051080-172085981 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 172067332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 600
(M600R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111243]
|
| AlphaFold |
Q9WV27 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111243
AA Change: M600R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106874
Gene: ENSMUSG00000007107
AA Change: M600R
| 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: ENSMUST00000191616
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,988,189 (GRCm39) |
K3158E |
possibly damaging |
Het |
| Ak7 |
G |
A |
12: 105,679,834 (GRCm39) |
V123M |
probably benign |
Het |
| Ankmy1 |
A |
T |
1: 92,816,372 (GRCm39) |
N247K |
probably benign |
Het |
| Atp1a1 |
A |
G |
3: 101,494,259 (GRCm39) |
V447A |
probably benign |
Het |
| Baat |
A |
G |
4: 49,502,727 (GRCm39) |
Y132H |
probably damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,405,906 (GRCm39) |
V215A |
probably damaging |
Het |
| Celf2 |
G |
T |
2: 6,590,831 (GRCm39) |
N279K |
possibly damaging |
Het |
| Cfap96 |
A |
T |
8: 46,423,505 (GRCm39) |
I69N |
probably damaging |
Het |
| Clec14a |
C |
T |
12: 58,314,767 (GRCm39) |
R285H |
probably benign |
Het |
| Ctnna1 |
T |
G |
18: 35,312,880 (GRCm39) |
I244R |
possibly damaging |
Het |
| Dcxr |
T |
A |
11: 120,617,130 (GRCm39) |
N105Y |
possibly damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,468,461 (GRCm39) |
F166L |
probably damaging |
Het |
| Ercc3 |
G |
A |
18: 32,378,624 (GRCm39) |
A202T |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,584,625 (GRCm39) |
D67G |
probably benign |
Het |
| Fancm |
G |
A |
12: 65,171,718 (GRCm39) |
R1786H |
probably benign |
Het |
| Fnbp1 |
A |
G |
2: 30,926,552 (GRCm39) |
|
probably null |
Het |
| Frem2 |
A |
G |
3: 53,455,228 (GRCm39) |
L2116S |
possibly damaging |
Het |
| Gbp5 |
A |
G |
3: 142,209,546 (GRCm39) |
E164G |
probably benign |
Het |
| Gm4922 |
A |
T |
10: 18,660,007 (GRCm39) |
Y238* |
probably null |
Het |
| Gm8257 |
A |
G |
14: 44,893,774 (GRCm39) |
Y62H |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,755,739 (GRCm39) |
F525S |
probably damaging |
Het |
| Hjv |
T |
G |
3: 96,434,869 (GRCm39) |
S203A |
probably benign |
Het |
| Hsd17b3 |
C |
A |
13: 64,210,984 (GRCm39) |
|
probably null |
Het |
| Ighv1-23 |
T |
A |
12: 114,728,179 (GRCm39) |
Q81L |
probably benign |
Het |
| Inpp4b |
T |
C |
8: 82,696,164 (GRCm39) |
V366A |
probably damaging |
Het |
| Jak1 |
G |
T |
4: 101,036,791 (GRCm39) |
A283D |
possibly damaging |
Het |
| Kmt2d |
G |
T |
15: 98,748,140 (GRCm39) |
|
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,262,086 (GRCm39) |
D354E |
probably damaging |
Het |
| Mettl17 |
T |
C |
14: 52,126,246 (GRCm39) |
V218A |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
C |
T |
8: 108,093,855 (GRCm39) |
Q699* |
probably null |
Het |
| Or4s2b |
G |
A |
2: 88,508,240 (GRCm39) |
V14I |
probably benign |
Het |
| Or4s2b |
T |
G |
2: 88,508,523 (GRCm39) |
V101G |
probably benign |
Het |
| Or7e174 |
C |
A |
9: 20,012,540 (GRCm39) |
H162N |
probably benign |
Het |
| Osbpl7 |
C |
A |
11: 96,947,095 (GRCm39) |
S265R |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,430,046 (GRCm39) |
T1258A |
probably damaging |
Het |
| Pcdh20 |
A |
T |
14: 88,705,866 (GRCm39) |
L478Q |
probably damaging |
Het |
| Pde11a |
A |
G |
2: 75,988,677 (GRCm39) |
V488A |
probably benign |
Het |
| Phactr1 |
A |
T |
13: 43,248,441 (GRCm39) |
E463D |
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,973,520 (GRCm39) |
N282K |
possibly damaging |
Het |
| Samd9l |
A |
T |
6: 3,373,935 (GRCm39) |
Y1109N |
probably damaging |
Het |
| Samd9l |
GAA |
GAAA |
6: 3,373,937 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Serpinb12 |
T |
A |
1: 106,876,883 (GRCm39) |
D66E |
probably benign |
Het |
| Sgk2 |
G |
A |
2: 162,836,674 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
C |
A |
6: 142,047,378 (GRCm39) |
C404F |
probably benign |
Het |
| Spaca6 |
C |
T |
17: 18,051,387 (GRCm39) |
A21V |
probably damaging |
Het |
| Sphkap |
G |
T |
1: 83,256,782 (GRCm39) |
Y322* |
probably null |
Het |
| Sptlc3 |
G |
A |
2: 139,478,600 (GRCm39) |
V520I |
probably benign |
Het |
| Stox2 |
A |
G |
8: 47,645,970 (GRCm39) |
S497P |
probably damaging |
Het |
| Syt9 |
A |
T |
7: 107,035,594 (GRCm39) |
K204* |
probably null |
Het |
| Taf3 |
A |
G |
2: 9,957,468 (GRCm39) |
V233A |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,637,285 (GRCm39) |
|
probably null |
Het |
| Tdrd5 |
T |
A |
1: 156,111,944 (GRCm39) |
T479S |
probably benign |
Het |
| Tex10 |
T |
C |
4: 48,452,946 (GRCm39) |
D671G |
probably benign |
Het |
| Tgtp2 |
T |
C |
11: 48,949,811 (GRCm39) |
T254A |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,249,391 (GRCm39) |
Y114C |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ubac1 |
A |
T |
2: 25,888,989 (GRCm39) |
I402N |
probably damaging |
Het |
| Zmat1 |
A |
T |
X: 133,873,694 (GRCm39) |
S566T |
probably damaging |
Homo |
|
| 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 |
|
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'- AGGCAGCAATCAATTAGGCC -3'
(R):5'- AGGGCTTTGAAAGGACACC -3'
Sequencing Primer
(F):5'- CAAGAGTATTGGGCGCCTACTCTAG -3'
(R):5'- GGCTTTGAAAGGACACCATTAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation