Incidental Mutation 'R3845:Atp4a'
| ID |
277325 |
| 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 |
040893-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R3845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30411634-30424959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30416540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 439
(N439S)
|
| 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 null
Transcript: ENSMUST00000005692
AA Change: N439S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: N439S
| 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: ENSMUST00000167761
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170371
AA Change: N439S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: N439S
| 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
|
| Meta Mutation Damage Score |
0.3569 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (45/46) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
C |
8: 44,079,669 (GRCm39) |
N185S |
probably benign |
Het |
| Apool |
A |
T |
X: 111,274,155 (GRCm39) |
|
probably benign |
Het |
| AU041133 |
T |
A |
10: 81,987,152 (GRCm39) |
H268Q |
probably damaging |
Het |
| Ccdc136 |
C |
T |
6: 29,417,176 (GRCm39) |
R666W |
probably benign |
Het |
| Ccdc97 |
T |
C |
7: 25,414,453 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,839,583 (GRCm39) |
V336A |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,237,585 (GRCm39) |
N1870D |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,719,673 (GRCm39) |
D229N |
unknown |
Het |
| Cpn1 |
G |
T |
19: 43,962,523 (GRCm39) |
P142Q |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,287,819 (GRCm39) |
D3420G |
probably damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,087,135 (GRCm39) |
F482S |
possibly damaging |
Het |
| Foxo1 |
T |
A |
3: 52,253,701 (GRCm39) |
D621E |
probably benign |
Het |
| Grid2 |
A |
G |
6: 64,322,826 (GRCm39) |
M609V |
possibly damaging |
Het |
| Hsd17b3 |
A |
T |
13: 64,236,876 (GRCm39) |
F23I |
possibly damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,407,003 (GRCm39) |
I217T |
probably benign |
Het |
| Mis18bp1 |
G |
A |
12: 65,195,916 (GRCm39) |
S616L |
possibly damaging |
Het |
| Mtch1 |
A |
T |
17: 29,561,806 (GRCm39) |
F133I |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,149,931 (GRCm39) |
V1830E |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,689,237 (GRCm39) |
M347V |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,993,713 (GRCm39) |
|
probably benign |
Het |
| Nhej1 |
A |
T |
1: 75,008,042 (GRCm39) |
D76E |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or5m12 |
A |
C |
2: 85,735,081 (GRCm39) |
C106G |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,609,526 (GRCm39) |
V307A |
probably benign |
Het |
| Pltp |
T |
A |
2: 164,696,208 (GRCm39) |
M135L |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,476,098 (GRCm39) |
Y1106C |
probably damaging |
Het |
| Pramel26 |
T |
C |
4: 143,538,545 (GRCm39) |
E142G |
probably damaging |
Het |
| Ptgir |
G |
A |
7: 16,641,311 (GRCm39) |
R201H |
probably damaging |
Het |
| Ptk7 |
A |
T |
17: 46,897,344 (GRCm39) |
D329E |
probably benign |
Het |
| Pygl |
T |
C |
12: 70,245,217 (GRCm39) |
D411G |
probably benign |
Het |
| Rev1 |
A |
T |
1: 38,138,069 (GRCm39) |
M72K |
probably damaging |
Het |
| Sfrp1 |
T |
C |
8: 23,902,264 (GRCm39) |
L155P |
probably damaging |
Het |
| Slc5a4a |
A |
G |
10: 76,024,983 (GRCm39) |
E620G |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,698,273 (GRCm39) |
I1314V |
probably benign |
Het |
| Tas2r109 |
G |
A |
6: 132,957,766 (GRCm39) |
L55F |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,693,109 (GRCm39) |
C274S |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,584,532 (GRCm39) |
N330S |
probably benign |
Het |
| Tent4b |
A |
T |
8: 88,977,292 (GRCm39) |
I322F |
possibly damaging |
Het |
| Tmem38b |
T |
A |
4: 53,859,905 (GRCm39) |
D228E |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,187,122 (GRCm39) |
V109A |
possibly damaging |
Het |
| Trbv5 |
A |
G |
6: 41,039,682 (GRCm39) |
I96V |
probably benign |
Het |
| Trim16 |
T |
G |
11: 62,727,498 (GRCm39) |
|
probably benign |
Het |
| Upf3a |
A |
T |
8: 13,848,238 (GRCm39) |
T345S |
probably benign |
Het |
| Usp15 |
A |
G |
10: 122,955,040 (GRCm39) |
S913P |
probably damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,293,953 (GRCm39) |
V680D |
possibly damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,327,860 (GRCm39) |
V485I |
probably benign |
Het |
| Zdbf2 |
A |
T |
1: 63,347,483 (GRCm39) |
H1954L |
possibly damaging |
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 |
|
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 |
|
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'- TACTCTCCATGCCTGGGAAG -3'
(R):5'- TCGCAAACTTTGGGGAAGC -3'
Sequencing Primer
(F):5'- CATGCCTGGGAAGGGGAC -3'
(R):5'- TGTAACCCATGGCGTTGC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation