Incidental Mutation 'R7712:Atp4a'
| ID |
594679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp4a
|
| Ensembl Gene |
ENSMUSG00000005553 |
| Gene Name |
ATPase, H+/K+ exchanging, gastric, alpha polypeptide |
| Synonyms |
H+K+-transporting alpha 1, H+/K+-ATPase alpha |
| MMRRC Submission |
045770-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R7712 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30411634-30424959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30414978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 256
(S256T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005692]
[ENSMUST00000170371]
[ENSMUST00000171014]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005692
AA Change: S256T
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: S256T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:H-K_ATPase_N
|
2 |
42 |
5.4e-23 |
PFAM |
|
Cation_ATPase_N
|
52 |
126 |
2.26e-18 |
SMART |
|
Pfam:E1-E2_ATPase
|
144 |
375 |
1.1e-57 |
PFAM |
|
Pfam:Hydrolase
|
380 |
739 |
5.3e-16 |
PFAM |
|
Pfam:HAD
|
383 |
736 |
1.9e-18 |
PFAM |
|
Pfam:Cation_ATPase
|
436 |
531 |
1.6e-24 |
PFAM |
|
Pfam:Cation_ATPase_C
|
809 |
1019 |
4.8e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170371
AA Change: S256T
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: S256T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:H-K_ATPase_N
|
2 |
42 |
4.9e-28 |
PFAM |
|
Cation_ATPase_N
|
52 |
126 |
2.26e-18 |
SMART |
|
Pfam:E1-E2_ATPase
|
145 |
376 |
1e-62 |
PFAM |
|
Pfam:Hydrolase
|
380 |
730 |
9.3e-25 |
PFAM |
|
Pfam:HAD
|
383 |
727 |
2.1e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
436 |
531 |
4e-25 |
PFAM |
|
Pfam:Cation_ATPase_C
|
800 |
1010 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171014
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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 a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in achlorhydria, hypergastrinemia, and abnormalities of the parietal cells. Mice homozygous for an ENU-induced allele exhibit iron-deficiency anemia. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2) |
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
C |
5: 114,303,799 (GRCm39) |
D74A |
probably benign |
Het |
| Alox15 |
T |
C |
11: 70,241,079 (GRCm39) |
|
probably null |
Het |
| Ano5 |
A |
G |
7: 51,222,805 (GRCm39) |
T455A |
probably benign |
Het |
| Ano5 |
T |
G |
7: 51,240,403 (GRCm39) |
I827S |
probably damaging |
Het |
| Arid1a |
G |
A |
4: 133,479,922 (GRCm39) |
A334V |
probably benign |
Het |
| Atp13a4 |
A |
G |
16: 29,278,305 (GRCm39) |
C298R |
|
Het |
| Atp6v1c1 |
G |
A |
15: 38,687,049 (GRCm39) |
V215I |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,582,109 (GRCm39) |
F600L |
probably benign |
Het |
| Bmp8b |
A |
T |
4: 123,018,257 (GRCm39) |
Y376F |
possibly damaging |
Het |
| Cacna2d1 |
A |
T |
5: 16,567,347 (GRCm39) |
D986V |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,503,223 (GRCm39) |
F973S |
possibly damaging |
Het |
| Ccdc177 |
G |
A |
12: 80,804,712 (GRCm39) |
Q521* |
probably null |
Het |
| Cd209b |
T |
A |
8: 3,973,299 (GRCm39) |
E158D |
possibly damaging |
Het |
| Cdk14 |
G |
A |
5: 5,430,061 (GRCm39) |
T22I |
possibly damaging |
Het |
| Chl1 |
A |
T |
6: 103,688,063 (GRCm39) |
I968F |
possibly damaging |
Het |
| Cnot7 |
T |
C |
8: 40,947,122 (GRCm39) |
Y255C |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,475,376 (GRCm39) |
L600H |
probably benign |
Het |
| Cpne7 |
C |
A |
8: 123,850,920 (GRCm39) |
L129M |
probably damaging |
Het |
| Cpxm2 |
G |
T |
7: 131,756,107 (GRCm39) |
P79Q |
possibly damaging |
Het |
| Dhx9 |
T |
A |
1: 153,340,747 (GRCm39) |
N631I |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,026,528 (GRCm39) |
S1879P |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,300,831 (GRCm39) |
F63I |
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,223,866 (GRCm39) |
N98S |
probably damaging |
Het |
| Fgd2 |
A |
G |
17: 29,595,886 (GRCm39) |
T515A |
probably benign |
Het |
| Fmo1 |
T |
C |
1: 162,663,704 (GRCm39) |
D275G |
probably benign |
Het |
| Gm5796 |
A |
G |
14: 15,379,960 (GRCm39) |
Y90C |
probably damaging |
Het |
| H60b |
C |
A |
10: 22,161,637 (GRCm39) |
H42N |
possibly damaging |
Het |
| Hipk2 |
A |
G |
6: 38,680,569 (GRCm39) |
S924P |
probably benign |
Het |
| Hpf1 |
C |
A |
8: 61,358,613 (GRCm39) |
S27* |
probably null |
Het |
| Idua |
T |
G |
5: 108,829,388 (GRCm39) |
D443E |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,009,357 (GRCm39) |
G816D |
possibly damaging |
Het |
| Lgi3 |
T |
A |
14: 70,768,551 (GRCm39) |
V16E |
unknown |
Het |
| Lpar1 |
T |
A |
4: 58,486,795 (GRCm39) |
M159L |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,755,280 (GRCm39) |
D618G |
possibly damaging |
Het |
| Man2b2 |
C |
G |
5: 36,967,658 (GRCm39) |
Q903H |
probably benign |
Het |
| Marchf7 |
A |
T |
2: 60,065,334 (GRCm39) |
K537* |
probably null |
Het |
| Mcoln1 |
T |
C |
8: 3,555,873 (GRCm39) |
F56S |
probably damaging |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Myo1b |
A |
T |
1: 51,832,836 (GRCm39) |
M383K |
probably damaging |
Het |
| Or12k7 |
A |
T |
2: 36,958,916 (GRCm39) |
T200S |
probably damaging |
Het |
| Or1f19 |
T |
C |
16: 3,410,295 (GRCm39) |
F12L |
probably damaging |
Het |
| Or8a1b |
T |
C |
9: 37,623,429 (GRCm39) |
I49V |
probably damaging |
Het |
| Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
| Pcdha8 |
A |
C |
18: 37,125,737 (GRCm39) |
D73A |
possibly damaging |
Het |
| Pcdhga8 |
C |
T |
18: 37,860,102 (GRCm39) |
T386M |
possibly damaging |
Het |
| Pdzd2 |
G |
T |
15: 12,407,422 (GRCm39) |
T346N |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 133,013,349 (GRCm39) |
Q781R |
probably damaging |
Het |
| Pp2d1 |
T |
A |
17: 53,815,318 (GRCm39) |
T469S |
possibly damaging |
Het |
| Sectm1a |
G |
A |
11: 120,959,631 (GRCm39) |
L166F |
probably damaging |
Het |
| Sgms1 |
T |
A |
19: 32,120,169 (GRCm39) |
M246L |
probably benign |
Het |
| Shroom3 |
G |
A |
5: 93,098,806 (GRCm39) |
G1429S |
probably benign |
Het |
| Snx17 |
T |
A |
5: 31,352,804 (GRCm39) |
F101Y |
probably damaging |
Het |
| Sowahb |
C |
T |
5: 93,191,240 (GRCm39) |
S493N |
probably benign |
Het |
| Spc25 |
T |
A |
2: 69,036,481 (GRCm39) |
R7S |
unknown |
Het |
| Sult2b1 |
A |
G |
7: 45,379,620 (GRCm39) |
I308T |
probably benign |
Het |
| Tkt |
A |
G |
14: 30,280,763 (GRCm39) |
N65D |
probably benign |
Het |
| Ttc5 |
A |
T |
14: 51,010,769 (GRCm39) |
S221T |
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
| Wipf1 |
A |
C |
2: 73,274,805 (GRCm39) |
S55R |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,344,530 (GRCm39) |
S970P |
possibly damaging |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp362 |
A |
T |
4: 128,671,203 (GRCm39) |
H313Q |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,121,420 (GRCm39) |
I158F |
probably benign |
Het |
|
| Other mutations in Atp4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Atp4a
|
APN |
7 |
30,412,629 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01327:Atp4a
|
APN |
7 |
30,412,675 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL01510:Atp4a
|
APN |
7 |
30,420,216 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01763:Atp4a
|
APN |
7 |
30,414,943 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02061:Atp4a
|
APN |
7 |
30,414,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02435:Atp4a
|
APN |
7 |
30,416,482 (GRCm39) |
missense |
probably benign |
|
|
IGL02903:Atp4a
|
APN |
7 |
30,415,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03181:Atp4a
|
APN |
7 |
30,424,129 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03350:Atp4a
|
APN |
7 |
30,420,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
atypical
|
UTSW |
7 |
30,414,781 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
sublytic
|
UTSW |
7 |
30,415,225 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03097:Atp4a
|
UTSW |
7 |
30,422,462 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0095:Atp4a
|
UTSW |
7 |
30,420,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0121:Atp4a
|
UTSW |
7 |
30,419,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0140:Atp4a
|
UTSW |
7 |
30,419,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0241:Atp4a
|
UTSW |
7 |
30,416,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0437:Atp4a
|
UTSW |
7 |
30,419,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0624:Atp4a
|
UTSW |
7 |
30,418,424 (GRCm39) |
missense |
probably benign |
|
|
R1164:Atp4a
|
UTSW |
7 |
30,417,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2105:Atp4a
|
UTSW |
7 |
30,419,793 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2272:Atp4a
|
UTSW |
7 |
30,414,925 (GRCm39) |
nonsense |
probably null |
|
|
R2327:Atp4a
|
UTSW |
7 |
30,419,666 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2881:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2990:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2992:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2993:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3123:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3125:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3441:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3442:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3686:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3687:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3845:Atp4a
|
UTSW |
7 |
30,416,540 (GRCm39) |
missense |
probably null |
0.99 |
|
R4027:Atp4a
|
UTSW |
7 |
30,424,377 (GRCm39) |
splice site |
probably null |
|
|
R4072:Atp4a
|
UTSW |
7 |
30,414,757 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4433:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4454:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4457:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4458:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4510:Atp4a
|
UTSW |
7 |
30,423,678 (GRCm39) |
nonsense |
probably null |
|
|
R4511:Atp4a
|
UTSW |
7 |
30,423,678 (GRCm39) |
nonsense |
probably null |
|
|
R4576:Atp4a
|
UTSW |
7 |
30,417,147 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4656:Atp4a
|
UTSW |
7 |
30,419,373 (GRCm39) |
intron |
probably benign |
|
|
R4661:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4662:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4852:Atp4a
|
UTSW |
7 |
30,423,693 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4892:Atp4a
|
UTSW |
7 |
30,411,899 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4907:Atp4a
|
UTSW |
7 |
30,418,517 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5024:Atp4a
|
UTSW |
7 |
30,415,289 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5254:Atp4a
|
UTSW |
7 |
30,414,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Atp4a
|
UTSW |
7 |
30,414,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:Atp4a
|
UTSW |
7 |
30,420,231 (GRCm39) |
missense |
probably benign |
|
|
R5484:Atp4a
|
UTSW |
7 |
30,420,097 (GRCm39) |
unclassified |
probably benign |
|
|
R5729:Atp4a
|
UTSW |
7 |
30,411,851 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5762:Atp4a
|
UTSW |
7 |
30,418,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5797:Atp4a
|
UTSW |
7 |
30,412,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Atp4a
|
UTSW |
7 |
30,421,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6030:Atp4a
|
UTSW |
7 |
30,421,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6077:Atp4a
|
UTSW |
7 |
30,415,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6243:Atp4a
|
UTSW |
7 |
30,415,382 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6346:Atp4a
|
UTSW |
7 |
30,414,781 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6459:Atp4a
|
UTSW |
7 |
30,411,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6515:Atp4a
|
UTSW |
7 |
30,411,903 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6773:Atp4a
|
UTSW |
7 |
30,414,802 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6854:Atp4a
|
UTSW |
7 |
30,414,433 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7215:Atp4a
|
UTSW |
7 |
30,416,785 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7271:Atp4a
|
UTSW |
7 |
30,421,944 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7340:Atp4a
|
UTSW |
7 |
30,416,155 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7457:Atp4a
|
UTSW |
7 |
30,420,192 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7593:Atp4a
|
UTSW |
7 |
30,424,105 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7762:Atp4a
|
UTSW |
7 |
30,419,461 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8714:Atp4a
|
UTSW |
7 |
30,420,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9324:Atp4a
|
UTSW |
7 |
30,415,207 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Atp4a
|
UTSW |
7 |
30,417,265 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1186:Atp4a
|
UTSW |
7 |
30,416,782 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGATCAACGCGGATCAGCTTG -3'
(R):5'- AAACCCTGAGCTGTTCCTGC -3'
Sequencing Primer
(F):5'- CAGCTTGTGGTGGGCGAC -3'
(R):5'- AGCTGTTCCTGCAGTGGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation