Incidental Mutation 'R5254:Atp4a'
| ID |
399341 |
| 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 |
042825-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R5254 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30411634-30424959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30414955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 248
(E248V)
|
| 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: E248V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: E248V
| 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 damaging
Transcript: ENSMUST00000170371
AA Change: E248V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: E248V
| 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 |
0.9569 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
98% (82/84) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
G |
T |
8: 71,911,042 (GRCm39) |
C296* |
probably null |
Het |
| Adam11 |
T |
A |
11: 102,665,098 (GRCm39) |
Y413* |
probably null |
Het |
| Ankhd1 |
A |
G |
18: 36,789,768 (GRCm39) |
I907V |
probably benign |
Het |
| Arrdc5 |
A |
G |
17: 56,604,897 (GRCm39) |
I130T |
probably benign |
Het |
| Asic5 |
T |
A |
3: 81,928,294 (GRCm39) |
I419K |
probably damaging |
Het |
| Avil |
C |
A |
10: 126,847,630 (GRCm39) |
V154L |
probably benign |
Het |
| Bclaf1 |
T |
A |
10: 20,199,282 (GRCm39) |
H226Q |
possibly damaging |
Het |
| Cald1 |
A |
G |
6: 34,723,351 (GRCm39) |
|
probably benign |
Het |
| Cd200r4 |
A |
C |
16: 44,652,453 (GRCm39) |
D27A |
possibly damaging |
Het |
| Cdsn |
T |
A |
17: 35,863,099 (GRCm39) |
M1K |
probably null |
Het |
| Cfap46 |
T |
A |
7: 139,258,430 (GRCm39) |
H281L |
possibly damaging |
Het |
| Chaf1a |
T |
C |
17: 56,369,606 (GRCm39) |
F533L |
probably benign |
Het |
| Chil4 |
T |
A |
3: 106,126,768 (GRCm39) |
I5F |
probably benign |
Het |
| Ctu2 |
A |
T |
8: 123,203,327 (GRCm39) |
R48W |
probably damaging |
Het |
| Daam1 |
A |
T |
12: 71,993,350 (GRCm39) |
H373L |
unknown |
Het |
| Dcaf10 |
T |
A |
4: 45,370,415 (GRCm39) |
Y328N |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,217,012 (GRCm39) |
K1151* |
probably null |
Het |
| Ect2 |
T |
C |
3: 27,184,219 (GRCm39) |
D503G |
probably damaging |
Het |
| Epm2a |
C |
A |
10: 11,333,089 (GRCm39) |
D307E |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,249,230 (GRCm39) |
D73V |
probably damaging |
Het |
| Fam20b |
C |
T |
1: 156,533,310 (GRCm39) |
G102D |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,172,001 (GRCm39) |
N2904S |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,312,500 (GRCm39) |
Q147L |
possibly damaging |
Het |
| Fndc11 |
A |
G |
2: 180,863,956 (GRCm39) |
T254A |
possibly damaging |
Het |
| Galnt15 |
C |
T |
14: 31,780,244 (GRCm39) |
R514* |
probably null |
Het |
| Gbgt1 |
A |
G |
2: 28,395,220 (GRCm39) |
D286G |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,415,032 (GRCm39) |
|
probably null |
Het |
| Gm26526 |
A |
T |
7: 39,238,658 (GRCm39) |
|
noncoding transcript |
Het |
| H2-K2 |
T |
C |
17: 34,216,436 (GRCm39) |
T237A |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,857,067 (GRCm39) |
S1010T |
probably damaging |
Het |
| Il21 |
T |
C |
3: 37,281,884 (GRCm39) |
T87A |
possibly damaging |
Het |
| Kmt2b |
G |
A |
7: 30,268,600 (GRCm39) |
R2010C |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,519,592 (GRCm39) |
P2173S |
probably benign |
Het |
| Krt1 |
A |
T |
15: 101,754,803 (GRCm39) |
S512T |
unknown |
Het |
| Krtap16-1 |
G |
A |
11: 99,876,424 (GRCm39) |
R327* |
probably null |
Het |
| Lama1 |
T |
A |
17: 68,063,711 (GRCm39) |
I745N |
probably benign |
Het |
| Lrrk1 |
T |
A |
7: 65,956,855 (GRCm39) |
N372I |
probably benign |
Het |
| Lyst |
A |
T |
13: 13,857,655 (GRCm39) |
E2481D |
probably benign |
Het |
| Map2k1 |
A |
T |
9: 64,095,027 (GRCm39) |
|
probably benign |
Het |
| Mbip |
A |
G |
12: 56,384,228 (GRCm39) |
V215A |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,158,814 (GRCm39) |
V398D |
probably benign |
Het |
| Mog |
T |
G |
17: 37,323,264 (GRCm39) |
I225L |
probably benign |
Het |
| Mrgprx3-ps |
T |
A |
7: 46,959,184 (GRCm39) |
|
noncoding transcript |
Het |
| Muc5b |
C |
T |
7: 141,418,277 (GRCm39) |
S3741L |
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,037,402 (GRCm39) |
I202F |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,833,677 (GRCm39) |
I818F |
possibly damaging |
Het |
| Nfia |
T |
A |
4: 97,902,534 (GRCm39) |
M262K |
probably damaging |
Het |
| Nisch |
C |
T |
14: 30,928,524 (GRCm39) |
|
probably null |
Het |
| Nkd1 |
A |
G |
8: 89,315,822 (GRCm39) |
D64G |
probably damaging |
Het |
| Nt5c2 |
T |
A |
19: 46,881,999 (GRCm39) |
K284* |
probably null |
Het |
| Or14a259 |
A |
T |
7: 86,013,398 (GRCm39) |
V49E |
possibly damaging |
Het |
| Or4k15b |
C |
A |
14: 50,272,135 (GRCm39) |
A242S |
possibly damaging |
Het |
| Or4l1 |
A |
T |
14: 50,166,236 (GRCm39) |
I255N |
probably damaging |
Het |
| Or52z14 |
T |
G |
7: 103,252,996 (GRCm39) |
I45R |
probably benign |
Het |
| Or5an1c |
A |
G |
19: 12,218,612 (GRCm39) |
S138P |
probably damaging |
Het |
| Or5j3 |
A |
T |
2: 86,128,265 (GRCm39) |
Y35F |
probably damaging |
Het |
| Or8g55 |
A |
T |
9: 39,784,741 (GRCm39) |
T57S |
possibly damaging |
Het |
| Or8k24 |
A |
T |
2: 86,216,484 (GRCm39) |
S93T |
possibly damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,878 (GRCm39) |
D556V |
probably damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,859,673 (GRCm39) |
D243V |
probably benign |
Het |
| Polq |
A |
T |
16: 36,909,681 (GRCm39) |
Q2355L |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc5a4a |
C |
A |
10: 76,018,572 (GRCm39) |
Y506* |
probably null |
Het |
| Sp110 |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Tarbp1 |
G |
A |
8: 127,193,895 (GRCm39) |
H336Y |
probably damaging |
Het |
| Tas2r134 |
T |
G |
2: 51,517,559 (GRCm39) |
F13V |
probably benign |
Het |
| Tgfb2 |
A |
G |
1: 186,436,680 (GRCm39) |
Y98H |
probably damaging |
Het |
| Tmprss11a |
C |
A |
5: 86,559,665 (GRCm39) |
V376L |
probably damaging |
Het |
| Tmprss11f |
T |
A |
5: 86,685,892 (GRCm39) |
K158N |
probably benign |
Het |
| Tnip2 |
G |
T |
5: 34,660,922 (GRCm39) |
Q177K |
probably damaging |
Het |
| Trp53inp1 |
T |
A |
4: 11,165,075 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
C |
T |
5: 111,419,104 (GRCm39) |
P1398S |
probably benign |
Het |
| Umodl1 |
T |
G |
17: 31,199,333 (GRCm39) |
I308S |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,839,719 (GRCm39) |
S1942T |
probably damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,283,339 (GRCm39) |
N344K |
probably benign |
Het |
| Vmn2r25 |
C |
G |
6: 123,802,277 (GRCm39) |
C542S |
probably damaging |
Het |
| Wiz |
T |
A |
17: 32,597,470 (GRCm39) |
|
probably benign |
Het |
| Wrap73 |
A |
G |
4: 154,239,803 (GRCm39) |
Y343C |
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 |
|
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'- ATCAACGCGGATCAGCTTGTG -3'
(R):5'- AAACCCTGAGCTGTTCCTG -3'
Sequencing Primer
(F):5'- CAGCTTGTGGTGGGCGAC -3'
(R):5'- CCTGAGCTGTTCCTGCAGTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation