Incidental Mutation 'R0963:Atp4b'
ID |
81376 |
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 |
039092-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0963 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
13436209-13446778 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 13440014 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 111
(H111N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033826
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033826]
|
AlphaFold |
P50992 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033826
AA Change: H111N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000033826 Gene: ENSMUSG00000031449 AA Change: H111N
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: 99.4%
- 3x: 98.8%
- 10x: 97.1%
- 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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb2 |
A |
G |
13: 8,722,451 (GRCm39) |
D369G |
probably damaging |
Het |
Adcy7 |
T |
C |
8: 89,038,893 (GRCm39) |
V303A |
probably damaging |
Het |
Afap1l1 |
A |
T |
18: 61,870,001 (GRCm39) |
Y610N |
probably damaging |
Het |
Agr3 |
T |
A |
12: 35,984,433 (GRCm39) |
H53Q |
probably benign |
Het |
Akr1d1 |
A |
G |
6: 37,507,209 (GRCm39) |
I10M |
probably damaging |
Het |
Bbs7 |
G |
T |
3: 36,667,412 (GRCm39) |
A8E |
probably benign |
Het |
Bsn |
C |
T |
9: 107,989,006 (GRCm39) |
V2249M |
possibly damaging |
Het |
Cpt1a |
T |
C |
19: 3,431,634 (GRCm39) |
S685P |
probably damaging |
Het |
Dhx57 |
A |
T |
17: 80,582,956 (GRCm39) |
H163Q |
probably benign |
Het |
Duox2 |
A |
C |
2: 122,117,653 (GRCm39) |
C894G |
probably benign |
Het |
Ecm1 |
T |
C |
3: 95,643,900 (GRCm39) |
T209A |
possibly damaging |
Het |
Glo1 |
T |
C |
17: 30,819,085 (GRCm39) |
N79S |
probably benign |
Het |
Htra1 |
T |
A |
7: 130,584,009 (GRCm39) |
M388K |
possibly damaging |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Jag2 |
C |
T |
12: 112,878,934 (GRCm39) |
E496K |
probably damaging |
Het |
Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
Khdc1c |
A |
G |
1: 21,439,833 (GRCm39) |
N128S |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,119,132 (GRCm39) |
N829S |
probably benign |
Het |
Leprotl1 |
T |
C |
8: 34,606,189 (GRCm39) |
Y33C |
probably damaging |
Het |
Lypd11 |
A |
T |
7: 24,423,047 (GRCm39) |
D90E |
probably benign |
Het |
Map3k3 |
T |
A |
11: 106,014,618 (GRCm39) |
S130T |
probably benign |
Het |
Mip |
C |
T |
10: 128,061,854 (GRCm39) |
A35V |
probably benign |
Het |
Ms4a19 |
T |
C |
19: 11,118,921 (GRCm39) |
T63A |
possibly damaging |
Het |
Myh15 |
A |
G |
16: 48,952,512 (GRCm39) |
R861G |
probably damaging |
Het |
Myom1 |
A |
C |
17: 71,384,762 (GRCm39) |
I718L |
possibly damaging |
Het |
Naip6 |
C |
T |
13: 100,452,983 (GRCm39) |
R26H |
probably benign |
Het |
Or52e4 |
G |
A |
7: 104,706,179 (GRCm39) |
C242Y |
probably damaging |
Het |
Pde6b |
A |
G |
5: 108,578,534 (GRCm39) |
E824G |
probably benign |
Het |
Pramel24 |
T |
A |
4: 143,453,678 (GRCm39) |
I262N |
possibly damaging |
Het |
Rbm19 |
T |
G |
5: 120,268,799 (GRCm39) |
S476A |
possibly damaging |
Het |
Rpl39l |
T |
A |
16: 9,992,162 (GRCm39) |
|
probably null |
Het |
Sec24b |
A |
G |
3: 129,834,554 (GRCm39) |
S79P |
probably benign |
Het |
Slc15a2 |
G |
A |
16: 36,594,935 (GRCm39) |
A146V |
probably damaging |
Het |
Slmap |
T |
C |
14: 26,189,675 (GRCm39) |
Y161C |
probably damaging |
Het |
Smc4 |
T |
A |
3: 68,933,259 (GRCm39) |
C652S |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,869,231 (GRCm39) |
I1499T |
probably damaging |
Het |
Tnnt1 |
A |
G |
7: 4,510,594 (GRCm39) |
L209P |
probably damaging |
Het |
Trim52 |
T |
G |
14: 106,344,973 (GRCm39) |
S210R |
probably benign |
Het |
Tsc22d1 |
T |
A |
14: 76,656,039 (GRCm39) |
N82K |
possibly damaging |
Het |
Wdr75 |
T |
C |
1: 45,856,470 (GRCm39) |
Y498H |
probably benign |
Het |
Zfp955a |
C |
T |
17: 33,462,726 (GRCm39) |
S56N |
probably benign |
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 |
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 |
|
R4400:Atp4b
|
UTSW |
8 |
13,438,810 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GCTGCAAAGCTCTCCTGGAAGAAG -3'
(R):5'- CCAAGTGTCACTATTGCTGGGCTG -3'
Sequencing Primer
(F):5'- CAGATGTACAGTTGATGCTGTCC -3'
(R):5'- TGCTTACGGGAGTCTCAAC -3'
|
Posted On |
2013-11-07 |