Incidental Mutation 'R4400:Atp4b'
| ID |
326590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp4b
|
| Ensembl Gene |
ENSMUSG00000031449 |
| Gene Name |
ATPase, H+/K+ exchanging, beta polypeptide |
| Synonyms |
H+/K+-ATPase beta, H,K-ATPase-Beta, H+,K+-ATPase |
| MMRRC Submission |
041131-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4400 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13436209-13446778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13438810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 189
(F189L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033826]
|
| AlphaFold |
P50992 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033826
AA Change: F189L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033826
Gene: ENSMUSG00000031449
AA Change: F189L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_K-ATPase
|
7 |
288 |
5.7e-108 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211331
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.3%
|
| 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 a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are superficially normal but have hypertrophied stomach mucosa, neutral luminal pH in the stomach, and hypergastrinemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
A |
T |
5: 67,922,221 (GRCm39) |
Y372N |
probably benign |
Het |
| Bves |
T |
C |
10: 45,245,389 (GRCm39) |
V354A |
probably benign |
Het |
| Cd79b |
A |
T |
11: 106,202,836 (GRCm39) |
Y195* |
probably null |
Het |
| Cog6 |
A |
C |
3: 52,920,362 (GRCm39) |
D131E |
probably benign |
Het |
| Elp3 |
C |
T |
14: 65,785,539 (GRCm39) |
E421K |
possibly damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,157,378 (GRCm39) |
F237Y |
probably damaging |
Het |
| Fezf1 |
T |
C |
6: 23,247,709 (GRCm39) |
N122S |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,051,042 (GRCm39) |
K157E |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,871,970 (GRCm39) |
E141G |
possibly damaging |
Het |
| Gm26888 |
T |
C |
11: 119,044,853 (GRCm39) |
|
silent |
Het |
| Gnrhr |
T |
C |
5: 86,330,108 (GRCm39) |
|
probably null |
Het |
| Hoxd13 |
A |
T |
2: 74,500,359 (GRCm39) |
D300V |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,275,433 (GRCm39) |
A2748T |
probably benign |
Het |
| Hyal2 |
A |
G |
9: 107,448,052 (GRCm39) |
N235S |
probably damaging |
Het |
| Itgam |
T |
G |
7: 127,680,830 (GRCm39) |
L253R |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Matr3 |
A |
T |
18: 35,716,969 (GRCm39) |
K591N |
possibly damaging |
Het |
| Mep1a |
T |
A |
17: 43,785,897 (GRCm39) |
I731F |
possibly damaging |
Het |
| Mrtfa |
G |
A |
15: 80,905,124 (GRCm39) |
Q103* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,415,124 (GRCm39) |
D2690G |
possibly damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,220,981 (GRCm39) |
Q1140R |
probably benign |
Het |
| Or14c39 |
A |
G |
7: 86,343,798 (GRCm39) |
I45V |
probably benign |
Het |
| Or5ac23 |
C |
T |
16: 59,148,961 (GRCm39) |
V304I |
probably benign |
Het |
| Or6b6 |
A |
G |
7: 106,571,209 (GRCm39) |
L114P |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,754,736 (GRCm39) |
F1028L |
probably damaging |
Het |
| Plpp2 |
A |
G |
10: 79,363,327 (GRCm39) |
V106A |
possibly damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,528 (GRCm39) |
T255A |
possibly damaging |
Het |
| Shoc2 |
A |
G |
19: 54,019,660 (GRCm39) |
I568V |
probably benign |
Het |
| Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
| Ssrp1 |
A |
T |
2: 84,868,285 (GRCm39) |
D9V |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,694,883 (GRCm39) |
D293E |
possibly damaging |
Het |
| Tbx3 |
G |
T |
5: 119,818,636 (GRCm39) |
D404Y |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,005,540 (GRCm39) |
S416P |
possibly damaging |
Het |
| Trim60 |
G |
T |
8: 65,453,864 (GRCm39) |
Y128* |
probably null |
Het |
| Tspoap1 |
T |
C |
11: 87,666,429 (GRCm39) |
S947P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,612,739 (GRCm39) |
S17113R |
probably damaging |
Het |
| Ubqln1 |
T |
A |
13: 58,341,202 (GRCm39) |
N183I |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,189,167 (GRCm39) |
N3917D |
possibly damaging |
Het |
| Ucp2 |
A |
G |
7: 100,148,557 (GRCm39) |
*310W |
probably null |
Het |
| Wdr76 |
A |
G |
2: 121,359,314 (GRCm39) |
M218V |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,884,392 (GRCm39) |
L998R |
possibly damaging |
Het |
| Zxdc |
G |
A |
6: 90,346,792 (GRCm39) |
G51E |
probably damaging |
Het |
|
| Other mutations in Atp4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Atp4b
|
APN |
8 |
13,439,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02596:Atp4b
|
APN |
8 |
13,443,471 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0558:Atp4b
|
UTSW |
8 |
13,443,523 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0829:Atp4b
|
UTSW |
8 |
13,440,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0963:Atp4b
|
UTSW |
8 |
13,440,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1528:Atp4b
|
UTSW |
8 |
13,439,693 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1605:Atp4b
|
UTSW |
8 |
13,443,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Atp4b
|
UTSW |
8 |
13,437,477 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3824:Atp4b
|
UTSW |
8 |
13,443,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3825:Atp4b
|
UTSW |
8 |
13,443,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4108:Atp4b
|
UTSW |
8 |
13,446,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4606:Atp4b
|
UTSW |
8 |
13,439,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4681:Atp4b
|
UTSW |
8 |
13,439,700 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6056:Atp4b
|
UTSW |
8 |
13,438,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Atp4b
|
UTSW |
8 |
13,436,732 (GRCm39) |
missense |
probably benign |
|
|
R7888:Atp4b
|
UTSW |
8 |
13,439,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8743:Atp4b
|
UTSW |
8 |
13,443,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Atp4b
|
UTSW |
8 |
13,437,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9523:Atp4b
|
UTSW |
8 |
13,436,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9742:Atp4b
|
UTSW |
8 |
13,440,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Atp4b
|
UTSW |
8 |
13,446,684 (GRCm39) |
small deletion |
probably benign |
|
|
Z1177:Atp4b
|
UTSW |
8 |
13,439,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATGGCTATAGCATTTTCCC -3'
(R):5'- CCTGTTCTGCAGCAAGGAAG -3'
Sequencing Primer
(F):5'- GTGTCATCACTCCTGTCAGCAG -3'
(R):5'- GGAAGGCTGCTAATCACCACAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation