Incidental Mutation 'R8714:Atp4a'
ID |
669770 |
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 |
068568-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R8714 (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 30420013 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 750
(I750N)
|
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: I759N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000005692 Gene: ENSMUSG00000005553 AA Change: I759N
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: I750N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000131964 Gene: ENSMUSG00000005553 AA Change: I750N
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: 99.6%
- 20x: 98.7%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
C |
T |
4: 103,100,093 (GRCm39) |
A137T |
probably benign |
Het |
4930474N05Rik |
T |
A |
14: 35,818,456 (GRCm39) |
C151* |
probably null |
Het |
Abca4 |
A |
G |
3: 121,942,528 (GRCm39) |
T1674A |
probably benign |
Het |
Acat3 |
A |
T |
17: 13,147,516 (GRCm39) |
V167E |
probably benign |
Het |
Alb |
T |
C |
5: 90,608,874 (GRCm39) |
|
probably null |
Het |
Apol9a |
T |
C |
15: 77,288,942 (GRCm39) |
T142A |
probably benign |
Het |
Asb14 |
C |
T |
14: 26,623,032 (GRCm39) |
P135S |
possibly damaging |
Het |
Asb17 |
A |
G |
3: 153,556,313 (GRCm39) |
Y140C |
probably damaging |
Het |
Bard1 |
T |
C |
1: 71,069,986 (GRCm39) |
Y664C |
probably damaging |
Het |
Cacnb3 |
G |
A |
15: 98,530,262 (GRCm39) |
|
probably benign |
Het |
Card11 |
T |
A |
5: 140,899,147 (GRCm39) |
D9V |
possibly damaging |
Het |
Casp8 |
A |
T |
1: 58,872,812 (GRCm39) |
Q229H |
possibly damaging |
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Cd209d |
CAT |
C |
8: 3,923,772 (GRCm39) |
|
probably null |
Het |
Cep350 |
T |
C |
1: 155,736,477 (GRCm39) |
D2853G |
probably damaging |
Het |
Cfap161 |
T |
C |
7: 83,442,482 (GRCm39) |
I110M |
probably benign |
Het |
Chid1 |
T |
A |
7: 141,093,678 (GRCm39) |
K313* |
probably null |
Het |
Col16a1 |
T |
A |
4: 129,947,961 (GRCm39) |
I227N |
unknown |
Het |
D3Ertd751e |
G |
T |
3: 41,700,998 (GRCm39) |
E6* |
probably null |
Het |
Ddx41 |
T |
C |
13: 55,682,250 (GRCm39) |
Q208R |
probably damaging |
Het |
Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
Dmrta1 |
A |
T |
4: 89,579,682 (GRCm39) |
Q214L |
probably benign |
Het |
Eif2ak4 |
T |
C |
2: 118,292,765 (GRCm39) |
F1330L |
possibly damaging |
Het |
Fbxw13 |
C |
T |
9: 109,023,832 (GRCm39) |
V71I |
probably benign |
Het |
H2-Q2 |
T |
C |
17: 35,562,338 (GRCm39) |
L195P |
possibly damaging |
Het |
Hemgn |
C |
T |
4: 46,395,904 (GRCm39) |
G444D |
probably damaging |
Het |
Lmtk2 |
A |
G |
5: 144,112,876 (GRCm39) |
T1199A |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,164,829 (GRCm39) |
D783G |
probably damaging |
Het |
Micall1 |
G |
A |
15: 79,011,510 (GRCm39) |
A627T |
probably benign |
Het |
Morc2a |
C |
T |
11: 3,625,877 (GRCm39) |
T159I |
probably benign |
Het |
Mthfr |
C |
A |
4: 148,126,275 (GRCm39) |
N115K |
probably damaging |
Het |
Muc1 |
G |
A |
3: 89,138,821 (GRCm39) |
V477M |
possibly damaging |
Het |
Mug1 |
C |
T |
6: 121,859,681 (GRCm39) |
P1227S |
probably benign |
Het |
Ogfod3 |
T |
A |
11: 121,087,608 (GRCm39) |
D163V |
possibly damaging |
Het |
Or51a43 |
T |
A |
7: 103,717,483 (GRCm39) |
I252F |
probably damaging |
Het |
Pcnx2 |
C |
T |
8: 126,500,546 (GRCm39) |
V1515I |
probably benign |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Plscr3 |
G |
T |
11: 69,738,838 (GRCm39) |
G167C |
probably benign |
Het |
Plxna4 |
T |
A |
6: 32,140,379 (GRCm39) |
K1670* |
probably null |
Het |
Prb1c |
G |
A |
6: 132,341,051 (GRCm39) |
T7I |
unknown |
Het |
Rab7 |
T |
C |
6: 87,989,369 (GRCm39) |
S34G |
probably damaging |
Het |
Rnf157 |
C |
A |
11: 116,237,891 (GRCm39) |
A577S |
probably benign |
Het |
Rnf213 |
C |
T |
11: 119,359,720 (GRCm39) |
S4371L |
|
Het |
S1pr1 |
A |
T |
3: 115,505,470 (GRCm39) |
S375T |
probably benign |
Het |
Spen |
T |
C |
4: 141,215,314 (GRCm39) |
N506S |
unknown |
Het |
Sulf1 |
T |
A |
1: 12,878,141 (GRCm39) |
Y210N |
probably benign |
Het |
Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
Tg |
A |
G |
15: 66,555,891 (GRCm39) |
N861S |
probably damaging |
Het |
Ttc29 |
A |
G |
8: 79,060,331 (GRCm39) |
E417G |
possibly damaging |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Ubxn7 |
T |
A |
16: 32,186,229 (GRCm39) |
|
probably benign |
Het |
Vmn1r62 |
C |
A |
7: 5,678,629 (GRCm39) |
Y103* |
probably null |
Het |
Zfp804b |
A |
T |
5: 6,822,378 (GRCm39) |
Y228* |
probably null |
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 |
R7712:Atp4a
|
UTSW |
7 |
30,414,978 (GRCm39) |
missense |
probably damaging |
0.96 |
R7762:Atp4a
|
UTSW |
7 |
30,419,461 (GRCm39) |
missense |
probably damaging |
0.96 |
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'- AGAGTTGTCAGCGACTGGTG -3'
(R):5'- ATGCAATGGATTTCTTCAGGTTGTC -3'
Sequencing Primer
(F):5'- ACTGGTGAGACCCTGCTGAG -3'
(R):5'- TTGTCAAAGATCAGTCGGCC -3'
|
Posted On |
2021-04-30 |