Incidental Mutation 'R1034:Atp1b1'
ID |
95370 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp1b1
|
Ensembl Gene |
ENSMUSG00000026576 |
Gene Name |
ATPase, Na+/K+ transporting, beta 1 polypeptide |
Synonyms |
Atpb-1, Atpb, sodium/potassium ATPase beta subunit |
MMRRC Submission |
039133-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.739)
|
Stock # |
R1034 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
164264678-164285924 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 164281057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027863]
[ENSMUST00000193367]
|
AlphaFold |
P14094 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027863
|
SMART Domains |
Protein: ENSMUSP00000027863 Gene: ENSMUSG00000026576
Domain | Start | End | E-Value | Type |
Pfam:Na_K-ATPase
|
3 |
298 |
1.1e-100 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192522
|
Predicted Effect |
probably null
Transcript: ENSMUST00000193367
|
SMART Domains |
Protein: ENSMUSP00000141777 Gene: ENSMUSG00000026576
Domain | Start | End | E-Value | Type |
Pfam:Na_K-ATPase
|
1 |
132 |
2.7e-48 |
PFAM |
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.3%
- 10x: 92.9%
- 20x: 82.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes an integral membrane protein that comprises a subunit of an ATP-metabolizing enzyme responsible for transporting sodium and potassium ions across the plasma membrane. This enzyme regulates the electrochemical gradient of these ions in cells, and plays a central role in osmoregulation and signal transmission in nerves and muscles, among other biological processes. The encoded protein is the non-catalytic beta subunit; it works together with a catalytic alpha subunit and a gamma subunit. [provided by RefSeq, Mar 2013] PHENOTYPE: Mice homozygous for a conditional allele activated in cardiac tissue exhibit age-related cardiac hypertrophy and reduced cardiac function, insensitivity to ouabain, and increased heart dysfunction following aortic constriction. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
Abca14 |
T |
C |
7: 119,815,370 (GRCm39) |
F206S |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,267,386 (GRCm39) |
V622A |
probably benign |
Het |
Asic1 |
T |
A |
15: 99,595,939 (GRCm39) |
L437Q |
probably damaging |
Het |
B3gnt5 |
A |
G |
16: 19,588,234 (GRCm39) |
Y151C |
probably damaging |
Het |
Cbx4 |
A |
G |
11: 118,972,533 (GRCm39) |
S281P |
probably damaging |
Het |
Dnah5 |
G |
A |
15: 28,302,617 (GRCm39) |
V1625I |
probably damaging |
Het |
Eftud2 |
A |
C |
11: 102,740,010 (GRCm39) |
D461E |
probably benign |
Het |
Epgn |
A |
G |
5: 91,180,080 (GRCm39) |
Y74C |
probably damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Fgf14 |
C |
T |
14: 124,369,946 (GRCm39) |
V113I |
probably damaging |
Het |
Ggcx |
G |
A |
6: 72,391,814 (GRCm39) |
R68H |
probably damaging |
Het |
Gm1110 |
A |
G |
9: 26,832,646 (GRCm39) |
S16P |
probably damaging |
Het |
Gm6729 |
T |
C |
10: 86,375,890 (GRCm39) |
|
noncoding transcript |
Het |
Gpr108 |
A |
G |
17: 57,542,995 (GRCm39) |
F522S |
probably damaging |
Het |
Gpr156 |
T |
C |
16: 37,825,088 (GRCm39) |
V435A |
probably benign |
Het |
Khdrbs2 |
T |
C |
1: 32,506,872 (GRCm39) |
L172P |
probably damaging |
Het |
Kmo |
C |
T |
1: 175,479,184 (GRCm39) |
P240L |
possibly damaging |
Het |
Ltn1 |
A |
T |
16: 87,194,025 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
T |
A |
1: 60,329,165 (GRCm39) |
Y2194* |
probably null |
Het |
Or6c8 |
T |
A |
10: 128,915,830 (GRCm39) |
M1L |
probably benign |
Het |
Or7d11 |
A |
T |
9: 19,966,661 (GRCm39) |
S33T |
probably benign |
Het |
Rab6b |
T |
C |
9: 103,044,323 (GRCm39) |
S172P |
probably benign |
Het |
Ror1 |
T |
A |
4: 100,190,817 (GRCm39) |
L58* |
probably null |
Het |
Sec23b |
A |
G |
2: 144,432,258 (GRCm39) |
D756G |
possibly damaging |
Het |
Slc24a2 |
T |
A |
4: 86,950,512 (GRCm39) |
K428N |
probably damaging |
Het |
Spen |
C |
A |
4: 141,203,063 (GRCm39) |
V1855L |
probably benign |
Het |
Srgap1 |
G |
A |
10: 121,621,350 (GRCm39) |
P1071S |
possibly damaging |
Het |
Tns1 |
A |
G |
1: 73,981,128 (GRCm39) |
C1079R |
probably damaging |
Het |
Traf3ip1 |
G |
T |
1: 91,446,041 (GRCm39) |
|
probably null |
Het |
Trmt2a |
T |
C |
16: 18,067,573 (GRCm39) |
F82S |
probably damaging |
Het |
Xrn1 |
A |
G |
9: 95,921,790 (GRCm39) |
D1401G |
probably damaging |
Het |
Zfp352 |
T |
A |
4: 90,112,393 (GRCm39) |
S178T |
possibly damaging |
Het |
Zfp758 |
G |
T |
17: 22,594,740 (GRCm39) |
E409* |
probably null |
Het |
|
Other mutations in Atp1b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01642:Atp1b1
|
APN |
1 |
164,285,330 (GRCm39) |
missense |
probably benign |
0.34 |
IGL01801:Atp1b1
|
APN |
1 |
164,265,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R0941:Atp1b1
|
UTSW |
1 |
164,270,829 (GRCm39) |
missense |
probably benign |
|
R1597:Atp1b1
|
UTSW |
1 |
164,265,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R2202:Atp1b1
|
UTSW |
1 |
164,281,084 (GRCm39) |
missense |
probably benign |
0.01 |
R3811:Atp1b1
|
UTSW |
1 |
164,270,874 (GRCm39) |
missense |
probably benign |
0.00 |
R3817:Atp1b1
|
UTSW |
1 |
164,270,874 (GRCm39) |
missense |
probably benign |
0.00 |
R3819:Atp1b1
|
UTSW |
1 |
164,270,874 (GRCm39) |
missense |
probably benign |
0.00 |
R3880:Atp1b1
|
UTSW |
1 |
164,270,874 (GRCm39) |
missense |
probably benign |
0.00 |
R4420:Atp1b1
|
UTSW |
1 |
164,281,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R4945:Atp1b1
|
UTSW |
1 |
164,265,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGAGCCAGAACGGCCCTAGAATG -3'
(R):5'- GGGATTTGATTCCGAGCCTGTGAC -3'
Sequencing Primer
(F):5'- GATGTGCTCCATCACACAGTG -3'
(R):5'- GATTCCGAGCCTGTGACTACATC -3'
|
Posted On |
2014-01-05 |