Incidental Mutation 'R5797:Atp4a'
| ID |
447272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp4a
|
| Ensembl Gene |
ENSMUSG00000005553 |
| Gene Name |
ATPase, H+/K+ exchanging, gastric, alpha polypeptide |
| Synonyms |
H+/K+-ATPase alpha, H+K+-transporting alpha 1 |
| MMRRC Submission |
043209-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R5797 (G1)
|
| Quality Score |
219 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30712209-30725534 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30712649 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 65
(Y65C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005692]
[ENSMUST00000170371]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005692
AA Change: Y65C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: Y65C
| 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 |
noncoding transcript
Transcript: ENSMUST00000085702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167761
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170371
AA Change: Y65C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: Y65C
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| 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 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430573F11Rik |
A |
T |
8: 36,498,415 (GRCm38) |
K30* |
probably null |
Het |
| Abhd18 |
T |
C |
3: 40,933,551 (GRCm38) |
F277L |
probably benign |
Het |
| Acsf2 |
A |
G |
11: 94,571,679 (GRCm38) |
V170A |
probably damaging |
Het |
| Amz2 |
G |
T |
11: 109,427,079 (GRCm38) |
|
probably benign |
Het |
| Canx |
T |
C |
11: 50,301,017 (GRCm38) |
I356V |
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,967,576 (GRCm38) |
T1535S |
probably benign |
Het |
| Cts3 |
A |
T |
13: 61,568,392 (GRCm38) |
W52R |
probably damaging |
Het |
| Cyb5rl |
A |
T |
4: 107,084,207 (GRCm38) |
E276D |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 110,098,820 (GRCm38) |
N78S |
probably damaging |
Het |
| Dmap1 |
A |
T |
4: 117,675,480 (GRCm38) |
V333E |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,821,386 (GRCm38) |
E3744G |
probably benign |
Het |
| Efcab6 |
C |
T |
15: 83,924,277 (GRCm38) |
C828Y |
possibly damaging |
Het |
| Fam227b |
A |
C |
2: 126,007,334 (GRCm38) |
I326S |
probably benign |
Het |
| Fbrs |
C |
A |
7: 127,487,291 (GRCm38) |
H604Q |
probably damaging |
Het |
| Fshr |
T |
G |
17: 89,011,075 (GRCm38) |
N129T |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,035,713 (GRCm38) |
R401G |
probably damaging |
Het |
| Gm572 |
G |
A |
4: 148,666,798 (GRCm38) |
M209I |
probably benign |
Het |
| Gne |
G |
A |
4: 44,060,030 (GRCm38) |
T121M |
probably damaging |
Het |
| Gnmt |
T |
C |
17: 46,726,379 (GRCm38) |
N160D |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,212,249 (GRCm38) |
Y1125C |
probably damaging |
Het |
| Kif2a |
A |
T |
13: 106,975,376 (GRCm38) |
C524S |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,991,538 (GRCm38) |
N910S |
possibly damaging |
Het |
| Lrrtm2 |
C |
T |
18: 35,213,706 (GRCm38) |
R181H |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,433,069 (GRCm38) |
D214G |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,851,582 (GRCm38) |
T909N |
unknown |
Het |
| Myh13 |
T |
A |
11: 67,335,002 (GRCm38) |
D335E |
possibly damaging |
Het |
| Myo5b |
A |
G |
18: 74,701,521 (GRCm38) |
E884G |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,444,526 (GRCm38) |
D71G |
possibly damaging |
Het |
| Nxpe4 |
T |
A |
9: 48,396,538 (GRCm38) |
I314N |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,392,756 (GRCm38) |
E1525G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,592,641 (GRCm38) |
H153Q |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,737,834 (GRCm38) |
Y2157* |
probably null |
Het |
| Scd3 |
T |
C |
19: 44,215,511 (GRCm38) |
I46T |
probably benign |
Het |
| Sdha |
A |
T |
13: 74,334,357 (GRCm38) |
M279K |
probably damaging |
Het |
| Slco4c1 |
A |
G |
1: 96,819,104 (GRCm38) |
V671A |
probably benign |
Het |
| Slitrk3 |
T |
A |
3: 73,048,629 (GRCm38) |
T937S |
probably damaging |
Het |
| Sncaip |
A |
T |
18: 52,898,204 (GRCm38) |
T442S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,603,699 (GRCm38) |
D1748G |
possibly damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,085,870 (GRCm38) |
C825* |
probably null |
Het |
|
| Other mutations in Atp4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Atp4a
|
APN |
7 |
30,713,204 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01327:Atp4a
|
APN |
7 |
30,713,250 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
IGL01510:Atp4a
|
APN |
7 |
30,720,791 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01763:Atp4a
|
APN |
7 |
30,715,518 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL02061:Atp4a
|
APN |
7 |
30,715,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02435:Atp4a
|
APN |
7 |
30,717,057 (GRCm38) |
missense |
probably benign |
|
|
IGL02903:Atp4a
|
APN |
7 |
30,715,919 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03181:Atp4a
|
APN |
7 |
30,724,704 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03350:Atp4a
|
APN |
7 |
30,720,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
atypical
|
UTSW |
7 |
30,715,356 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
sublytic
|
UTSW |
7 |
30,715,800 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL03097:Atp4a
|
UTSW |
7 |
30,723,037 (GRCm38) |
missense |
probably benign |
0.14 |
|
R0095:Atp4a
|
UTSW |
7 |
30,720,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0121:Atp4a
|
UTSW |
7 |
30,720,101 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0140:Atp4a
|
UTSW |
7 |
30,720,101 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0241:Atp4a
|
UTSW |
7 |
30,717,135 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0437:Atp4a
|
UTSW |
7 |
30,720,101 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0624:Atp4a
|
UTSW |
7 |
30,718,999 (GRCm38) |
missense |
probably benign |
|
|
R1164:Atp4a
|
UTSW |
7 |
30,717,692 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2105:Atp4a
|
UTSW |
7 |
30,720,368 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2272:Atp4a
|
UTSW |
7 |
30,715,500 (GRCm38) |
nonsense |
probably null |
|
|
R2327:Atp4a
|
UTSW |
7 |
30,720,241 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2881:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2990:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2992:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2993:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3123:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3125:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3441:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3442:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3686:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3687:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3845:Atp4a
|
UTSW |
7 |
30,717,115 (GRCm38) |
missense |
probably null |
0.99 |
|
R4027:Atp4a
|
UTSW |
7 |
30,724,952 (GRCm38) |
splice site |
probably null |
|
|
R4072:Atp4a
|
UTSW |
7 |
30,715,332 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4433:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4454:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4457:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4458:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4510:Atp4a
|
UTSW |
7 |
30,724,253 (GRCm38) |
nonsense |
probably null |
|
|
R4511:Atp4a
|
UTSW |
7 |
30,724,253 (GRCm38) |
nonsense |
probably null |
|
|
R4576:Atp4a
|
UTSW |
7 |
30,717,722 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4656:Atp4a
|
UTSW |
7 |
30,719,948 (GRCm38) |
intron |
probably benign |
|
|
R4661:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4662:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4852:Atp4a
|
UTSW |
7 |
30,724,268 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4892:Atp4a
|
UTSW |
7 |
30,712,474 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4907:Atp4a
|
UTSW |
7 |
30,719,092 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5024:Atp4a
|
UTSW |
7 |
30,715,864 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5254:Atp4a
|
UTSW |
7 |
30,715,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5318:Atp4a
|
UTSW |
7 |
30,715,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5340:Atp4a
|
UTSW |
7 |
30,720,806 (GRCm38) |
missense |
probably benign |
|
|
R5484:Atp4a
|
UTSW |
7 |
30,720,672 (GRCm38) |
unclassified |
probably benign |
|
|
R5729:Atp4a
|
UTSW |
7 |
30,712,426 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R5762:Atp4a
|
UTSW |
7 |
30,719,096 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6030:Atp4a
|
UTSW |
7 |
30,722,516 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6030:Atp4a
|
UTSW |
7 |
30,722,516 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6077:Atp4a
|
UTSW |
7 |
30,715,919 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6243:Atp4a
|
UTSW |
7 |
30,715,957 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R6346:Atp4a
|
UTSW |
7 |
30,715,356 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R6459:Atp4a
|
UTSW |
7 |
30,712,462 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6515:Atp4a
|
UTSW |
7 |
30,712,478 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6773:Atp4a
|
UTSW |
7 |
30,715,377 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6854:Atp4a
|
UTSW |
7 |
30,715,008 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7215:Atp4a
|
UTSW |
7 |
30,717,360 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R7271:Atp4a
|
UTSW |
7 |
30,722,519 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7340:Atp4a
|
UTSW |
7 |
30,716,730 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7457:Atp4a
|
UTSW |
7 |
30,720,767 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7593:Atp4a
|
UTSW |
7 |
30,724,680 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7712:Atp4a
|
UTSW |
7 |
30,715,553 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7762:Atp4a
|
UTSW |
7 |
30,720,036 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8714:Atp4a
|
UTSW |
7 |
30,720,588 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9324:Atp4a
|
UTSW |
7 |
30,715,782 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1177:Atp4a
|
UTSW |
7 |
30,717,840 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
Z1186:Atp4a
|
UTSW |
7 |
30,717,357 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGTGGGGACATGACTGC -3'
(R):5'- TGTCACGGTGGAGGCTACAG -3'
Sequencing Primer
(F):5'- ACATGACTGCCAAGATGAGC -3'
(R):5'- GCATAGTCTCTTCTCTTTGCCATG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation