Incidental Mutation 'R0941:Atp1b1'
| ID |
82566 |
| 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 |
039080-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
R0941 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
164264678-164285924 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 164270829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 50
(I50S)
|
| 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: I106S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027863
Gene: ENSMUSG00000026576
AA Change: I106S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_K-ATPase
|
3 |
298 |
1.1e-100 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193367
AA Change: I50S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141777
Gene: ENSMUSG00000026576
AA Change: I50S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.9%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
G |
T |
18: 74,931,414 (GRCm39) |
M203I |
probably benign |
Het |
| Afmid |
T |
A |
11: 117,726,071 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,987,278 (GRCm39) |
D2854G |
probably damaging |
Het |
| Amotl1 |
A |
C |
9: 14,507,854 (GRCm39) |
I31S |
possibly damaging |
Het |
| Arf3 |
A |
G |
15: 98,638,984 (GRCm39) |
V91A |
probably benign |
Het |
| Baz1a |
A |
T |
12: 54,945,216 (GRCm39) |
S1380T |
probably benign |
Het |
| C4b |
T |
A |
17: 34,959,029 (GRCm39) |
T467S |
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,635,848 (GRCm39) |
S640P |
probably damaging |
Het |
| Col4a1 |
C |
T |
8: 11,258,296 (GRCm39) |
G1396S |
unknown |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
G |
T |
3: 85,580,366 (GRCm39) |
P613Q |
probably benign |
Het |
| Gm12695 |
C |
A |
4: 96,616,454 (GRCm39) |
E460* |
probably null |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
| Igsf8 |
C |
T |
1: 172,143,963 (GRCm39) |
R39C |
probably damaging |
Het |
| Kdm3b |
T |
A |
18: 34,936,605 (GRCm39) |
C296S |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,082,860 (GRCm39) |
P1373S |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,208,020 (GRCm39) |
L89P |
possibly damaging |
Het |
| Ltc4s |
T |
G |
11: 50,128,269 (GRCm39) |
|
probably null |
Het |
| Met |
A |
T |
6: 17,491,393 (GRCm39) |
I52F |
probably damaging |
Het |
| Mterf2 |
G |
A |
10: 84,955,934 (GRCm39) |
T230M |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Npr1 |
A |
T |
3: 90,368,716 (GRCm39) |
I448N |
probably benign |
Het |
| Or52u1 |
C |
T |
7: 104,237,545 (GRCm39) |
T178I |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Serpini1 |
A |
T |
3: 75,523,934 (GRCm39) |
I181F |
probably damaging |
Het |
| Shc3 |
T |
C |
13: 51,634,242 (GRCm39) |
M88V |
probably benign |
Het |
| Skint6 |
T |
A |
4: 113,095,555 (GRCm39) |
S35C |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,072,771 (GRCm39) |
|
probably benign |
Het |
| Sult2a2 |
C |
T |
7: 13,468,815 (GRCm39) |
R94* |
probably null |
Het |
| Trim9 |
A |
G |
12: 70,295,037 (GRCm39) |
V787A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,549,367 (GRCm39) |
V31770A |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,249,055 (GRCm39) |
N337D |
possibly damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,624,000 (GRCm39) |
Y107N |
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 |
|
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 |
|
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'- TCTAACGAGAATTCCGTGACATTGCC -3'
(R):5'- TTTAATCCATCCCGTGAGCCAAGTG -3'
Sequencing Primer
(F):5'- TGCCTTTAAACTACTAAAGCAACGG -3'
(R):5'- CGTGAGCCAAGTGGGAATG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation