Incidental Mutation 'R4576:Atp4a'
| ID |
342467 |
| 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 |
041799-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R4576 (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 30417147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 510
(D510G)
|
| 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 benign
Transcript: ENSMUST00000005692
AA Change: D510G
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: D510G
| 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
AA Change: D510G
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: D510G
| 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 |
0.5111 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (84/86) |
| 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 |
|---|
| Adhfe1 |
A |
T |
1: 9,623,979 (GRCm39) |
D160V |
probably damaging |
Het |
| Ano9 |
T |
C |
7: 140,684,051 (GRCm39) |
Q538R |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,973,158 (GRCm39) |
|
probably benign |
Het |
| Auts2 |
C |
T |
5: 132,287,773 (GRCm39) |
G70E |
probably benign |
Het |
| C7 |
A |
G |
15: 5,032,238 (GRCm39) |
S658P |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,832,325 (GRCm39) |
V404A |
possibly damaging |
Het |
| Cfap54 |
C |
T |
10: 92,879,090 (GRCm39) |
|
probably null |
Het |
| Chml |
G |
T |
1: 175,514,506 (GRCm39) |
Q129K |
probably damaging |
Het |
| Chst2 |
T |
C |
9: 95,287,224 (GRCm39) |
H374R |
probably damaging |
Het |
| Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
| Cirbp |
A |
G |
10: 80,006,075 (GRCm39) |
K84E |
probably damaging |
Het |
| Cln6 |
G |
T |
9: 62,746,231 (GRCm39) |
Q23H |
probably benign |
Het |
| Cntn5 |
A |
G |
9: 9,673,297 (GRCm39) |
M801T |
probably benign |
Het |
| Dapk1 |
A |
T |
13: 60,869,636 (GRCm39) |
M293L |
probably benign |
Het |
| Ddx11 |
A |
G |
17: 66,457,721 (GRCm39) |
K869E |
probably damaging |
Het |
| Ddx17 |
A |
T |
15: 79,425,347 (GRCm39) |
M108K |
probably benign |
Het |
| Dnaaf5 |
C |
A |
5: 139,171,394 (GRCm39) |
A557D |
probably damaging |
Het |
| Ecpas |
A |
T |
4: 58,834,708 (GRCm39) |
|
probably benign |
Het |
| Edil3 |
T |
C |
13: 89,467,850 (GRCm39) |
Y452H |
probably damaging |
Het |
| Elfn1 |
T |
C |
5: 139,957,808 (GRCm39) |
S271P |
probably benign |
Het |
| Enah |
G |
A |
1: 181,747,128 (GRCm39) |
S298L |
possibly damaging |
Het |
| Exoc7 |
T |
C |
11: 116,180,009 (GRCm39) |
*685W |
probably null |
Het |
| Fgfbp1 |
C |
T |
5: 44,136,806 (GRCm39) |
R162H |
probably benign |
Het |
| Foxj3 |
A |
G |
4: 119,478,860 (GRCm39) |
S439G |
unknown |
Het |
| Fzd9 |
A |
G |
5: 135,279,166 (GRCm39) |
S240P |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,720,064 (GRCm39) |
D442G |
probably damaging |
Het |
| Gm10804 |
C |
T |
2: 93,299,014 (GRCm39) |
|
noncoding transcript |
Het |
| Grhl3 |
G |
T |
4: 135,288,562 (GRCm39) |
T41K |
probably damaging |
Het |
| H6pd |
A |
T |
4: 150,078,933 (GRCm39) |
D243E |
probably damaging |
Het |
| Heatr6 |
T |
A |
11: 83,655,826 (GRCm39) |
S306T |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,221,622 (GRCm39) |
D812G |
possibly damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,610,238 (GRCm39) |
T1477K |
probably benign |
Het |
| Ift80 |
A |
G |
3: 68,857,863 (GRCm39) |
S261P |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,380,048 (GRCm39) |
D424V |
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,140,757 (GRCm39) |
S658P |
probably damaging |
Het |
| Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
| Kntc1 |
T |
G |
5: 123,904,018 (GRCm39) |
L345R |
probably damaging |
Het |
| Llph-ps2 |
A |
G |
X: 13,084,690 (GRCm39) |
|
noncoding transcript |
Het |
| Lpxn |
T |
C |
19: 12,810,654 (GRCm39) |
I366T |
probably benign |
Het |
| Lrp1 |
ACAGGCGC |
AC |
10: 127,376,057 (GRCm39) |
|
probably benign |
Het |
| Maml3 |
G |
A |
3: 51,763,927 (GRCm39) |
Q346* |
probably null |
Het |
| Mef2a |
T |
C |
7: 66,890,187 (GRCm39) |
N131S |
probably benign |
Het |
| Mlc1 |
G |
A |
15: 88,858,740 (GRCm39) |
T136M |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Pcdhga9 |
A |
C |
18: 37,870,881 (GRCm39) |
N237H |
probably damaging |
Het |
| Pde4dip |
C |
A |
3: 97,661,565 (GRCm39) |
E657D |
probably damaging |
Het |
| Pknox2 |
A |
G |
9: 36,834,844 (GRCm39) |
|
probably benign |
Het |
| Plcb3 |
C |
T |
19: 6,936,415 (GRCm39) |
|
probably benign |
Het |
| Plxnd1 |
G |
A |
6: 115,945,005 (GRCm39) |
A99V |
probably benign |
Het |
| Pnpla2 |
T |
C |
7: 141,037,257 (GRCm39) |
S87P |
probably damaging |
Het |
| Ppp1r14c |
G |
T |
10: 3,316,912 (GRCm39) |
K82N |
probably damaging |
Het |
| Pum3 |
G |
A |
19: 27,393,308 (GRCm39) |
T389M |
probably benign |
Het |
| Pxdn |
A |
T |
12: 30,061,922 (GRCm39) |
T1165S |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,044,529 (GRCm39) |
D925G |
possibly damaging |
Het |
| Samhd1 |
A |
T |
2: 156,943,670 (GRCm39) |
C615S |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,321,131 (GRCm39) |
Y1320* |
probably null |
Het |
| Slco6b1 |
T |
A |
1: 96,916,422 (GRCm39) |
|
noncoding transcript |
Het |
| Slitrk6 |
C |
A |
14: 110,987,602 (GRCm39) |
V702F |
probably benign |
Het |
| Spata31d1b |
C |
A |
13: 59,864,675 (GRCm39) |
H608N |
probably damaging |
Het |
| Spef1l |
A |
G |
7: 139,558,043 (GRCm39) |
I51T |
probably damaging |
Het |
| Srpra |
T |
C |
9: 35,125,904 (GRCm39) |
I394T |
possibly damaging |
Het |
| Svop |
C |
T |
5: 114,203,743 (GRCm39) |
V13M |
probably damaging |
Het |
| Tacc3 |
T |
A |
5: 33,818,841 (GRCm39) |
|
probably benign |
Het |
| Tango2 |
A |
T |
16: 18,119,392 (GRCm39) |
D146E |
probably damaging |
Het |
| Thbs1 |
G |
A |
2: 117,949,897 (GRCm39) |
R624Q |
probably damaging |
Het |
| Tmem161a |
T |
C |
8: 70,634,713 (GRCm39) |
|
probably null |
Het |
| Tmem175 |
A |
G |
5: 108,792,468 (GRCm39) |
D248G |
possibly damaging |
Het |
| Traf3ip2 |
A |
G |
10: 39,510,650 (GRCm39) |
N308D |
probably damaging |
Het |
| Trim30b |
T |
C |
7: 104,006,538 (GRCm39) |
Y106C |
possibly damaging |
Het |
| Trip11 |
G |
A |
12: 101,852,499 (GRCm39) |
Q521* |
probably null |
Het |
| Tssk5 |
C |
T |
15: 76,256,668 (GRCm39) |
R280Q |
probably benign |
Het |
| Ttc16 |
A |
T |
2: 32,660,071 (GRCm39) |
F246I |
probably benign |
Het |
| Unc79 |
T |
C |
12: 102,968,062 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
A |
G |
7: 11,580,696 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,665 (GRCm39) |
Y624F |
possibly damaging |
Het |
| Zc3h4 |
G |
A |
7: 16,168,579 (GRCm39) |
R896H |
unknown |
Het |
| Zfp941 |
T |
A |
7: 140,391,503 (GRCm39) |
K619* |
probably null |
Het |
| Zfp970 |
A |
T |
2: 177,167,473 (GRCm39) |
H349L |
probably 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 |
|
|
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'- AGAGCCGAGAACCAATTCTGC -3'
(R):5'- CAAGAAGTTTGGAGGGGTCC -3'
Sequencing Primer
(F):5'- GCCGAGAACCAATTCTGCTTTAGG -3'
(R):5'- TTGATACATAGCCCAGTCCATG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation