Incidental Mutation 'R0525:Atp1a4'
| ID |
48819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1a4
|
| Ensembl Gene |
ENSMUSG00000007107 |
| Gene Name |
ATPase, Na+/K+ transporting, alpha 4 polypeptide |
| Synonyms |
|
| MMRRC Submission |
038718-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0525 (G1)
|
| Quality Score |
147 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
172223513-172258414 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 172239688 bp (GRCm38)
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191616
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (72/72) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
T |
A |
7: 125,331,499 (GRCm38) |
|
noncoding transcript |
Het |
| A930002H24Rik |
A |
G |
17: 63,863,647 (GRCm38) |
W49R |
unknown |
Het |
| Abca13 |
G |
A |
11: 9,293,371 (GRCm38) |
V1745M |
probably damaging |
Het |
| Abca16 |
T |
G |
7: 120,465,810 (GRCm38) |
Y563* |
probably null |
Het |
| Acot12 |
C |
T |
13: 91,760,067 (GRCm38) |
|
probably benign |
Het |
| Alms1 |
G |
A |
6: 85,587,760 (GRCm38) |
A39T |
unknown |
Het |
| Arid5b |
T |
C |
10: 68,097,846 (GRCm38) |
D742G |
possibly damaging |
Het |
| AU021092 |
T |
A |
16: 5,217,861 (GRCm38) |
E145V |
possibly damaging |
Het |
| Calr4 |
A |
T |
4: 109,242,264 (GRCm38) |
|
probably benign |
Het |
| Clip4 |
T |
A |
17: 71,799,098 (GRCm38) |
|
probably null |
Het |
| Cnpy4 |
A |
T |
5: 138,192,616 (GRCm38) |
H180L |
probably benign |
Het |
| Cyp2j9 |
T |
C |
4: 96,579,565 (GRCm38) |
|
probably null |
Het |
| Dgkq |
A |
G |
5: 108,654,615 (GRCm38) |
S406P |
probably damaging |
Het |
| Dhx8 |
G |
A |
11: 101,763,928 (GRCm38) |
C1014Y |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,928,754 (GRCm38) |
Y3824C |
probably damaging |
Het |
| Donson |
A |
T |
16: 91,686,245 (GRCm38) |
H69Q |
probably damaging |
Het |
| Dppa3 |
A |
G |
6: 122,629,980 (GRCm38) |
E143G |
probably damaging |
Het |
| Drg1 |
A |
G |
11: 3,262,545 (GRCm38) |
F96L |
probably damaging |
Het |
| Dvl1 |
A |
C |
4: 155,855,595 (GRCm38) |
T395P |
probably damaging |
Het |
| Eftud2 |
A |
T |
11: 102,839,253 (GRCm38) |
V897D |
probably damaging |
Het |
| Enpp6 |
A |
G |
8: 47,082,443 (GRCm38) |
N341S |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,253,049 (GRCm38) |
F100L |
probably benign |
Het |
| Fas |
T |
C |
19: 34,319,327 (GRCm38) |
Y189H |
probably damaging |
Het |
| Galnt14 |
G |
T |
17: 73,545,081 (GRCm38) |
S114R |
probably damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,829,775 (GRCm38) |
I528V |
probably benign |
Het |
| Glt6d1 |
A |
G |
2: 25,794,268 (GRCm38) |
V242A |
possibly damaging |
Het |
| Grm1 |
A |
T |
10: 10,719,209 (GRCm38) |
|
probably benign |
Het |
| Gskip |
G |
A |
12: 105,698,965 (GRCm38) |
A88T |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,713,447 (GRCm38) |
I348V |
probably benign |
Het |
| Hnrnpul1 |
C |
A |
7: 25,740,883 (GRCm38) |
R316L |
possibly damaging |
Het |
| Il34 |
T |
C |
8: 110,748,283 (GRCm38) |
E121G |
probably damaging |
Het |
| Lrr1 |
T |
C |
12: 69,168,911 (GRCm38) |
L19P |
probably damaging |
Het |
| Mat2b |
A |
G |
11: 40,682,669 (GRCm38) |
|
probably benign |
Het |
| Mettl21e |
T |
C |
1: 44,206,382 (GRCm38) |
K235E |
probably damaging |
Het |
| Mir124-2hg |
T |
A |
3: 17,785,529 (GRCm38) |
E126V |
possibly damaging |
Het |
| Myh15 |
A |
G |
16: 49,132,051 (GRCm38) |
K828R |
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,764,926 (GRCm38) |
D127G |
possibly damaging |
Het |
| Nek5 |
C |
A |
8: 22,079,077 (GRCm38) |
|
probably benign |
Het |
| Nudt7 |
A |
T |
8: 114,151,652 (GRCm38) |
|
probably null |
Het |
| Olfr1056 |
C |
T |
2: 86,356,275 (GRCm38) |
V36I |
probably benign |
Het |
| Olfr1118 |
A |
T |
2: 87,309,349 (GRCm38) |
T187S |
probably benign |
Het |
| Olfr1200 |
G |
A |
2: 88,767,314 (GRCm38) |
Q334* |
probably null |
Het |
| Olfr350 |
T |
C |
2: 36,850,190 (GRCm38) |
L48P |
probably damaging |
Het |
| Olfr961 |
T |
G |
9: 39,647,471 (GRCm38) |
C248W |
probably damaging |
Het |
| Phyhd1 |
A |
G |
2: 30,281,028 (GRCm38) |
H241R |
probably damaging |
Het |
| Pmch |
T |
C |
10: 88,091,400 (GRCm38) |
|
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,441,520 (GRCm38) |
S697G |
probably damaging |
Het |
| Rslcan18 |
A |
G |
13: 67,112,258 (GRCm38) |
V25A |
probably benign |
Het |
| Sema6b |
T |
C |
17: 56,126,630 (GRCm38) |
H426R |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,238,339 (GRCm38) |
F9S |
probably damaging |
Het |
| Serpinb12 |
T |
A |
1: 106,946,702 (GRCm38) |
H52Q |
probably benign |
Het |
| Sh3gl1 |
T |
C |
17: 56,017,873 (GRCm38) |
K294R |
probably benign |
Het |
| Sidt1 |
G |
T |
16: 44,259,446 (GRCm38) |
T615K |
possibly damaging |
Het |
| Slc16a4 |
A |
C |
3: 107,297,939 (GRCm38) |
|
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,271,974 (GRCm38) |
|
probably null |
Het |
| Sp2 |
A |
T |
11: 96,956,098 (GRCm38) |
|
probably benign |
Het |
| Steap1 |
T |
A |
5: 5,742,903 (GRCm38) |
I3F |
possibly damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,129,797 (GRCm38) |
|
probably null |
Het |
| Tbc1d9 |
G |
T |
8: 83,268,985 (GRCm38) |
V968F |
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,038,213 (GRCm38) |
H239Y |
probably benign |
Het |
| Triobp |
T |
C |
15: 78,973,898 (GRCm38) |
L1233P |
possibly damaging |
Het |
| Trp53bp1 |
C |
A |
2: 121,251,868 (GRCm38) |
A317S |
probably null |
Het |
| Trpc4ap |
A |
G |
2: 155,640,478 (GRCm38) |
F531L |
possibly damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,218,249 (GRCm38) |
P473L |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 13,102,161 (GRCm38) |
K213E |
probably benign |
Het |
| Vps8 |
G |
A |
16: 21,540,109 (GRCm38) |
|
probably null |
Het |
| Wnk1 |
A |
T |
6: 119,926,564 (GRCm38) |
S2563T |
probably damaging |
Het |
| Yrdc |
C |
G |
4: 124,851,766 (GRCm38) |
R3G |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,715,244 (GRCm38) |
V279E |
probably benign |
Het |
|
| Other mutations in Atp1a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Atp1a4
|
APN |
1 |
172,239,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00924:Atp1a4
|
APN |
1 |
172,246,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01288:Atp1a4
|
APN |
1 |
172,257,907 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL01665:Atp1a4
|
APN |
1 |
172,246,724 (GRCm38) |
missense |
probably benign |
|
|
IGL02156:Atp1a4
|
APN |
1 |
172,257,962 (GRCm38) |
missense |
probably benign |
|
|
IGL02170:Atp1a4
|
APN |
1 |
172,234,536 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02228:Atp1a4
|
APN |
1 |
172,254,885 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
IGL02505:Atp1a4
|
APN |
1 |
172,235,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02653:Atp1a4
|
APN |
1 |
172,251,406 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL02792:Atp1a4
|
APN |
1 |
172,227,299 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02794:Atp1a4
|
APN |
1 |
172,244,086 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL03102:Atp1a4
|
APN |
1 |
172,231,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0046:Atp1a4
|
UTSW |
1 |
172,240,097 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0046:Atp1a4
|
UTSW |
1 |
172,240,097 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0276:Atp1a4
|
UTSW |
1 |
172,257,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0309:Atp1a4
|
UTSW |
1 |
172,234,987 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0615:Atp1a4
|
UTSW |
1 |
172,232,060 (GRCm38) |
splice site |
probably benign |
|
|
R0730:Atp1a4
|
UTSW |
1 |
172,240,207 (GRCm38) |
splice site |
probably benign |
|
|
R1412:Atp1a4
|
UTSW |
1 |
172,232,009 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1652:Atp1a4
|
UTSW |
1 |
172,254,903 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1898:Atp1a4
|
UTSW |
1 |
172,235,048 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1968:Atp1a4
|
UTSW |
1 |
172,240,164 (GRCm38) |
missense |
probably benign |
|
|
R2291:Atp1a4
|
UTSW |
1 |
172,244,906 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2897:Atp1a4
|
UTSW |
1 |
172,246,690 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2908:Atp1a4
|
UTSW |
1 |
172,234,477 (GRCm38) |
missense |
probably benign |
|
|
R3119:Atp1a4
|
UTSW |
1 |
172,239,826 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3731:Atp1a4
|
UTSW |
1 |
172,233,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4447:Atp1a4
|
UTSW |
1 |
172,234,431 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4602:Atp1a4
|
UTSW |
1 |
172,239,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4670:Atp1a4
|
UTSW |
1 |
172,235,000 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4674:Atp1a4
|
UTSW |
1 |
172,257,656 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4675:Atp1a4
|
UTSW |
1 |
172,257,656 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4785:Atp1a4
|
UTSW |
1 |
172,254,110 (GRCm38) |
nonsense |
probably null |
|
|
R4958:Atp1a4
|
UTSW |
1 |
172,231,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5015:Atp1a4
|
UTSW |
1 |
172,254,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5149:Atp1a4
|
UTSW |
1 |
172,232,005 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5234:Atp1a4
|
UTSW |
1 |
172,227,170 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5501:Atp1a4
|
UTSW |
1 |
172,246,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5682:Atp1a4
|
UTSW |
1 |
172,254,163 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5872:Atp1a4
|
UTSW |
1 |
172,244,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5933:Atp1a4
|
UTSW |
1 |
172,232,274 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6722:Atp1a4
|
UTSW |
1 |
172,258,050 (GRCm38) |
unclassified |
probably benign |
|
|
R7087:Atp1a4
|
UTSW |
1 |
172,246,702 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7122:Atp1a4
|
UTSW |
1 |
172,231,936 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R7381:Atp1a4
|
UTSW |
1 |
172,240,115 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R7431:Atp1a4
|
UTSW |
1 |
172,250,907 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8269:Atp1a4
|
UTSW |
1 |
172,232,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8400:Atp1a4
|
UTSW |
1 |
172,234,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8559:Atp1a4
|
UTSW |
1 |
172,251,330 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8680:Atp1a4
|
UTSW |
1 |
172,250,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8777:Atp1a4
|
UTSW |
1 |
172,232,302 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8777-TAIL:Atp1a4
|
UTSW |
1 |
172,232,302 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8867:Atp1a4
|
UTSW |
1 |
172,244,924 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8869:Atp1a4
|
UTSW |
1 |
172,227,123 (GRCm38) |
missense |
probably benign |
|
|
R9260:Atp1a4
|
UTSW |
1 |
172,246,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9300:Atp1a4
|
UTSW |
1 |
172,239,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9545:Atp1a4
|
UTSW |
1 |
172,250,897 (GRCm38) |
missense |
probably benign |
0.35 |
|
Z1176:Atp1a4
|
UTSW |
1 |
172,231,954 (GRCm38) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATTGGTCGAAGCACTGTGTTTG -3'
(R):5'- TCCAGTTTCCTGCTGAATGGGC -3'
Sequencing Primer
(F):5'- actgatgcctaagagtcatcc -3'
(R):5'- TGGACTTCCAGAATGCCTACATAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation