Incidental Mutation 'R5484:Atp4a'
| ID |
430310 |
| 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 |
043045-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R5484 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30411634-30424959 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 30420097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005692]
[ENSMUST00000170371]
[ENSMUST00000171014]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005692
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
| 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: ENSMUST00000165410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167761
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170371
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.4%
|
| Validation Efficiency |
97% (76/78) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,313,851 (GRCm39) |
H609R |
probably benign |
Het |
| Abca6 |
A |
T |
11: 110,074,899 (GRCm39) |
V1388E |
probably damaging |
Het |
| Alx1 |
T |
A |
10: 102,861,177 (GRCm39) |
D117V |
probably damaging |
Het |
| Ascl4 |
T |
C |
10: 85,764,401 (GRCm39) |
L16P |
probably damaging |
Het |
| Btnl10 |
G |
A |
11: 58,814,651 (GRCm39) |
V444M |
probably damaging |
Het |
| Camkv |
A |
T |
9: 107,823,345 (GRCm39) |
N124Y |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,542,175 (GRCm39) |
L625P |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,612,199 (GRCm39) |
I973V |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,815,483 (GRCm39) |
D1844G |
probably benign |
Het |
| Chd7 |
G |
C |
4: 8,828,258 (GRCm39) |
K1066N |
probably damaging |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,515,827 (GRCm39) |
D409G |
probably benign |
Het |
| Cry1 |
T |
C |
10: 84,982,588 (GRCm39) |
|
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,427,689 (GRCm39) |
|
probably benign |
Het |
| Cyrib |
T |
A |
15: 63,815,056 (GRCm39) |
T139S |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,022,531 (GRCm39) |
V1623E |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,069,099 (GRCm39) |
D2477E |
possibly damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dop1a |
C |
G |
9: 86,427,341 (GRCm39) |
R2164G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,368,014 (GRCm39) |
T678A |
possibly damaging |
Het |
| Farsb |
A |
C |
1: 78,452,833 (GRCm39) |
I51S |
probably damaging |
Het |
| Gm10220 |
T |
A |
5: 26,322,930 (GRCm39) |
I161L |
possibly damaging |
Het |
| Gm10782 |
G |
T |
13: 56,510,987 (GRCm39) |
|
noncoding transcript |
Het |
| Gm12830 |
A |
T |
4: 114,702,248 (GRCm39) |
T137S |
unknown |
Het |
| Gopc |
A |
G |
10: 52,234,942 (GRCm39) |
L67P |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,551,291 (GRCm39) |
I2655V |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,283,066 (GRCm39) |
Q1981* |
probably null |
Het |
| Ifi209 |
T |
A |
1: 173,468,640 (GRCm39) |
S157T |
probably benign |
Het |
| Ift56 |
T |
G |
6: 38,366,057 (GRCm39) |
C124W |
probably benign |
Het |
| Iqcf1 |
A |
T |
9: 106,379,107 (GRCm39) |
I74F |
probably damaging |
Het |
| Irf3 |
A |
T |
7: 44,649,382 (GRCm39) |
R78W |
probably damaging |
Het |
| Kank4 |
T |
C |
4: 98,663,022 (GRCm39) |
D722G |
probably benign |
Het |
| Loxl1 |
A |
G |
9: 58,198,065 (GRCm39) |
V597A |
possibly damaging |
Het |
| Marveld1 |
T |
C |
19: 42,136,272 (GRCm39) |
L62P |
probably damaging |
Het |
| Mga |
T |
G |
2: 119,747,107 (GRCm39) |
D419E |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,938,463 (GRCm39) |
K251E |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,142,644 (GRCm39) |
E935G |
probably damaging |
Het |
| Nat8f2 |
C |
A |
6: 85,844,994 (GRCm39) |
A123S |
possibly damaging |
Het |
| Niban1 |
A |
G |
1: 151,593,837 (GRCm39) |
T841A |
probably benign |
Het |
| Or4d11 |
G |
A |
19: 12,013,192 (GRCm39) |
L305F |
probably benign |
Het |
| Pcdha9 |
T |
A |
18: 37,131,156 (GRCm39) |
V75E |
probably damaging |
Het |
| Pebp4 |
A |
T |
14: 70,200,991 (GRCm39) |
|
probably null |
Het |
| Pitx1 |
A |
G |
13: 55,974,166 (GRCm39) |
S222P |
probably benign |
Het |
| Plekhg3 |
G |
A |
12: 76,625,174 (GRCm39) |
V1339M |
possibly damaging |
Het |
| Plekhs1 |
C |
T |
19: 56,468,260 (GRCm39) |
S276L |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,932 (GRCm39) |
T700A |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,048,412 (GRCm39) |
|
probably null |
Het |
| Pms2 |
T |
C |
5: 143,864,943 (GRCm39) |
I675T |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,577,888 (GRCm39) |
L268P |
probably damaging |
Het |
| Rtp1 |
A |
G |
16: 23,248,025 (GRCm39) |
T33A |
probably benign |
Het |
| Safb2 |
T |
C |
17: 56,882,346 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,085,941 (GRCm39) |
P1383Q |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,244,569 (GRCm39) |
C758S |
probably damaging |
Het |
| Sh3gl2 |
T |
C |
4: 85,317,160 (GRCm39) |
|
probably benign |
Het |
| Slc13a2 |
G |
A |
11: 78,295,648 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,278,631 (GRCm39) |
Y126H |
probably damaging |
Het |
| Strip2 |
C |
A |
6: 29,917,154 (GRCm39) |
|
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,805,230 (GRCm39) |
T440A |
probably damaging |
Het |
| Tcf7l2 |
C |
A |
19: 55,907,940 (GRCm39) |
|
probably null |
Het |
| Tgfb1 |
A |
C |
7: 25,387,574 (GRCm39) |
D94A |
probably benign |
Het |
| Tmem132b |
T |
C |
5: 125,864,797 (GRCm39) |
C968R |
probably damaging |
Het |
| Tmem176b |
T |
A |
6: 48,811,467 (GRCm39) |
M61L |
probably benign |
Het |
| Tmem258 |
A |
G |
19: 10,184,689 (GRCm39) |
|
probably null |
Het |
| Tpr |
T |
C |
1: 150,302,639 (GRCm39) |
L1379S |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,383,123 (GRCm39) |
D157G |
possibly damaging |
Het |
| Wfdc8 |
T |
C |
2: 164,439,649 (GRCm39) |
I244M |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,466,921 (GRCm39) |
S97P |
probably benign |
Het |
| Zfp655 |
T |
C |
5: 145,180,445 (GRCm39) |
V101A |
probably benign |
Het |
| Zfp788 |
T |
C |
7: 41,299,277 (GRCm39) |
S586P |
probably damaging |
Het |
| Zfp874b |
C |
T |
13: 67,629,373 (GRCm39) |
V52I |
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 |
|
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 |
|
|
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'- GGGATGGTGTGAATGACTCC -3'
(R):5'- AGACTCACGATATCTGTGCAG -3'
Sequencing Primer
(F):5'- ATGGTGTGAATGACTCCCCAGC -3'
(R):5'- GACTCACGATATCTGTGCAGAGTTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation