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, H,K-ATPase-Beta, H+/K+-ATPase beta |
| 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 |
13386205-13396825 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13388810 bp (GRCm38)
|
| 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: 67,764,878 (GRCm38) |
Y372N |
probably benign |
Het |
| Bves |
T |
C |
10: 45,369,293 (GRCm38) |
V354A |
probably benign |
Het |
| Cd79b |
A |
T |
11: 106,312,010 (GRCm38) |
Y195* |
probably null |
Het |
| Cog6 |
A |
C |
3: 53,012,941 (GRCm38) |
D131E |
probably benign |
Het |
| Elp3 |
C |
T |
14: 65,548,090 (GRCm38) |
E421K |
possibly damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,328,310 (GRCm38) |
F237Y |
probably damaging |
Het |
| Fezf1 |
T |
C |
6: 23,247,710 (GRCm38) |
N122S |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 124,324,303 (GRCm38) |
K157E |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,733,909 (GRCm38) |
E141G |
possibly damaging |
Het |
| Gm26888 |
T |
C |
11: 119,154,027 (GRCm38) |
|
silent |
Het |
| Gnrhr |
T |
C |
5: 86,182,249 (GRCm38) |
|
probably null |
Het |
| Hoxd13 |
A |
T |
2: 74,670,015 (GRCm38) |
D300V |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,548,122 (GRCm38) |
A2748T |
probably benign |
Het |
| Hyal2 |
A |
G |
9: 107,570,853 (GRCm38) |
N235S |
probably damaging |
Het |
| Itgam |
T |
G |
7: 128,081,658 (GRCm38) |
L253R |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 52,725,906 (GRCm38) |
74 |
probably benign |
Het |
| Matr3 |
A |
T |
18: 35,583,916 (GRCm38) |
K591N |
possibly damaging |
Het |
| Mep1a |
T |
A |
17: 43,475,006 (GRCm38) |
I731F |
possibly damaging |
Het |
| Mkl1 |
G |
A |
15: 81,020,923 (GRCm38) |
Q103* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,861,387 (GRCm38) |
D2690G |
possibly damaging |
Het |
| Nlrc5 |
A |
G |
8: 94,494,353 (GRCm38) |
Q1140R |
probably benign |
Het |
| Olfr205 |
C |
T |
16: 59,328,598 (GRCm38) |
V304I |
probably benign |
Het |
| Olfr292 |
A |
G |
7: 86,694,590 (GRCm38) |
I45V |
probably benign |
Het |
| Olfr711 |
A |
G |
7: 106,972,002 (GRCm38) |
L114P |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,715,577 (GRCm38) |
F1028L |
probably damaging |
Het |
| Plpp2 |
A |
G |
10: 79,527,493 (GRCm38) |
V106A |
possibly damaging |
Het |
| Prpf8 |
A |
G |
11: 75,490,702 (GRCm38) |
T255A |
possibly damaging |
Het |
| Shoc2 |
A |
G |
19: 54,031,229 (GRCm38) |
I568V |
probably benign |
Het |
| Spopl |
C |
T |
2: 23,517,945 (GRCm38) |
V241M |
probably damaging |
Het |
| Ssrp1 |
A |
T |
2: 85,037,941 (GRCm38) |
D9V |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,648,100 (GRCm38) |
D293E |
possibly damaging |
Het |
| Tbx3 |
G |
T |
5: 119,680,571 (GRCm38) |
D404Y |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,005,540 (GRCm38) |
S416P |
possibly damaging |
Het |
| Trim60 |
G |
T |
8: 65,001,212 (GRCm38) |
Y128* |
probably null |
Het |
| Tspoap1 |
T |
C |
11: 87,775,603 (GRCm38) |
S947P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,782,395 (GRCm38) |
S17113R |
probably damaging |
Het |
| Ubqln1 |
T |
A |
13: 58,193,388 (GRCm38) |
N183I |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,461,856 (GRCm38) |
N3917D |
possibly damaging |
Het |
| Ucp2 |
A |
G |
7: 100,499,350 (GRCm38) |
*310W |
probably null |
Het |
| Wdr76 |
A |
G |
2: 121,528,833 (GRCm38) |
M218V |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,956,655 (GRCm38) |
L998R |
possibly damaging |
Het |
| Zxdc |
G |
A |
6: 90,369,810 (GRCm38) |
G51E |
probably damaging |
Het |
|
| Other mutations in Atp4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Atp4b
|
APN |
8 |
13,389,679 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02596:Atp4b
|
APN |
8 |
13,393,471 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0558:Atp4b
|
UTSW |
8 |
13,393,523 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R0829:Atp4b
|
UTSW |
8 |
13,390,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0963:Atp4b
|
UTSW |
8 |
13,390,014 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1528:Atp4b
|
UTSW |
8 |
13,389,693 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1605:Atp4b
|
UTSW |
8 |
13,393,489 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2022:Atp4b
|
UTSW |
8 |
13,387,477 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3824:Atp4b
|
UTSW |
8 |
13,393,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3825:Atp4b
|
UTSW |
8 |
13,393,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4108:Atp4b
|
UTSW |
8 |
13,396,640 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4606:Atp4b
|
UTSW |
8 |
13,389,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4681:Atp4b
|
UTSW |
8 |
13,389,700 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6056:Atp4b
|
UTSW |
8 |
13,388,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7485:Atp4b
|
UTSW |
8 |
13,386,732 (GRCm38) |
missense |
probably benign |
|
|
R7888:Atp4b
|
UTSW |
8 |
13,389,811 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8743:Atp4b
|
UTSW |
8 |
13,393,489 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8896:Atp4b
|
UTSW |
8 |
13,387,514 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9523:Atp4b
|
UTSW |
8 |
13,386,746 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9742:Atp4b
|
UTSW |
8 |
13,390,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Atp4b
|
UTSW |
8 |
13,396,684 (GRCm38) |
small deletion |
probably benign |
|
|
Z1177:Atp4b
|
UTSW |
8 |
13,389,794 (GRCm38) |
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