Incidental Mutation 'R3811:Atp1b1'
ID |
275184 |
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 |
040767-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.739)
|
Stock # |
R3811 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
164264678-164285924 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 164270874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 35
(R35H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027863]
[ENSMUST00000193367]
|
AlphaFold |
P14094 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027863
AA Change: R91H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000027863 Gene: ENSMUSG00000026576 AA Change: R91H
Domain | Start | End | E-Value | Type |
Pfam:Na_K-ATPase
|
3 |
298 |
1.1e-100 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193367
AA Change: R35H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000141777 Gene: ENSMUSG00000026576 AA Change: R35H
Domain | Start | End | E-Value | Type |
Pfam:Na_K-ATPase
|
1 |
132 |
2.7e-48 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193980
|
Meta Mutation Damage Score |
0.0654 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
97% (36/37) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl3 |
G |
T |
6: 34,776,664 (GRCm39) |
S385I |
probably damaging |
Het |
Arhgap28 |
G |
A |
17: 68,203,088 (GRCm39) |
P122S |
probably benign |
Het |
Arid2 |
T |
C |
15: 96,186,967 (GRCm39) |
V73A |
probably benign |
Het |
Cacybp |
T |
C |
1: 160,031,222 (GRCm39) |
D202G |
probably benign |
Het |
Chsy3 |
C |
G |
18: 59,309,242 (GRCm39) |
P165R |
probably benign |
Het |
Creb3 |
C |
T |
4: 43,565,501 (GRCm39) |
Q227* |
probably null |
Het |
Crnkl1 |
C |
A |
2: 145,773,226 (GRCm39) |
R140L |
probably damaging |
Het |
Cyth4 |
A |
G |
15: 78,488,849 (GRCm39) |
E39G |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,168,481 (GRCm39) |
T481A |
probably benign |
Het |
Dock4 |
T |
A |
12: 40,829,123 (GRCm39) |
I1003N |
possibly damaging |
Het |
Galntl5 |
T |
C |
5: 25,391,178 (GRCm39) |
F26L |
probably benign |
Het |
Glrx5 |
C |
G |
12: 104,999,147 (GRCm39) |
C63W |
probably damaging |
Het |
Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,006,101 (GRCm39) |
T900A |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,525,328 (GRCm39) |
|
probably null |
Het |
Ighv1-24 |
G |
T |
12: 114,736,685 (GRCm39) |
L72I |
probably benign |
Het |
Ilvbl |
G |
A |
10: 78,414,869 (GRCm39) |
C244Y |
probably benign |
Het |
Kat7 |
A |
G |
11: 95,182,441 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,138,454 (GRCm39) |
|
probably null |
Het |
Mall |
T |
A |
2: 127,550,774 (GRCm39) |
I129F |
probably damaging |
Het |
Mdn1 |
A |
T |
4: 32,693,506 (GRCm39) |
K1044* |
probably null |
Het |
Med23 |
A |
T |
10: 24,768,490 (GRCm39) |
R77* |
probably null |
Het |
Med23 |
G |
A |
10: 24,768,491 (GRCm39) |
|
probably null |
Het |
Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
Or8k28 |
A |
T |
2: 86,285,691 (GRCm39) |
V308E |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,060,437 (GRCm39) |
V828D |
probably damaging |
Het |
Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
Rbbp5 |
T |
C |
1: 132,420,325 (GRCm39) |
V59A |
probably damaging |
Het |
Sco2 |
T |
C |
15: 89,257,882 (GRCm39) |
|
probably benign |
Het |
Slc32a1 |
G |
T |
2: 158,456,656 (GRCm39) |
C437F |
possibly damaging |
Het |
Spem2 |
T |
C |
11: 69,707,990 (GRCm39) |
E325G |
possibly damaging |
Het |
Steap4 |
A |
G |
5: 8,027,017 (GRCm39) |
T327A |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,848,011 (GRCm39) |
D70G |
probably benign |
Het |
Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
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 |
|
R1034:Atp1b1
|
UTSW |
1 |
164,281,057 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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'- GAGAATTCCGTGACATTGCC -3'
(R):5'- TTTAATCCATCCCGTGAGCC -3'
Sequencing Primer
(F):5'- TGCCTTTAAACTACTAAAGCAACGG -3'
(R):5'- TTAATCCATCCCGTGAGCCAAGTG -3'
|
Posted On |
2015-04-02 |