Incidental Mutation 'R6030:Atp4a'
| ID |
486194 |
| 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 |
044202-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R6030 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30411634-30424959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 30421941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 826
(E826Q)
|
| 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: E835Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: E835Q
| 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 damaging
Transcript: ENSMUST00000170371
AA Change: E826Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: E826Q
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,133,021 (GRCm39) |
N1317D |
probably benign |
Het |
| Abhd8 |
T |
A |
8: 71,910,794 (GRCm39) |
Y338F |
possibly damaging |
Het |
| Actg2 |
G |
T |
6: 83,493,346 (GRCm39) |
N297K |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,558,156 (GRCm39) |
D148G |
probably damaging |
Het |
| Alox12 |
T |
C |
11: 70,145,417 (GRCm39) |
D52G |
possibly damaging |
Het |
| Ano5 |
T |
A |
7: 51,224,573 (GRCm39) |
S496T |
probably damaging |
Het |
| Arl6ip4 |
T |
C |
5: 124,255,968 (GRCm39) |
|
probably null |
Het |
| Bbs7 |
T |
C |
3: 36,657,060 (GRCm39) |
D256G |
probably damaging |
Het |
| Bckdha |
T |
A |
7: 25,330,866 (GRCm39) |
D50V |
probably damaging |
Het |
| Cast |
A |
G |
13: 74,844,056 (GRCm39) |
S693P |
possibly damaging |
Het |
| Cfap251 |
C |
T |
5: 123,412,267 (GRCm39) |
T532M |
probably damaging |
Het |
| Col6a1 |
T |
C |
10: 76,545,700 (GRCm39) |
Y924C |
unknown |
Het |
| Crkl |
A |
G |
16: 17,270,604 (GRCm39) |
Y88C |
probably damaging |
Het |
| Cse1l |
T |
C |
2: 166,761,541 (GRCm39) |
F32L |
probably benign |
Het |
| Dmxl2 |
C |
T |
9: 54,300,957 (GRCm39) |
V2385I |
probably benign |
Het |
| Dnah1 |
T |
A |
14: 30,989,984 (GRCm39) |
I3219F |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,916,375 (GRCm39) |
R4266H |
probably benign |
Het |
| Efcab5 |
A |
G |
11: 77,012,088 (GRCm39) |
L722P |
probably damaging |
Het |
| Emilin3 |
C |
A |
2: 160,751,105 (GRCm39) |
V215L |
probably benign |
Het |
| Entr1 |
T |
C |
2: 26,276,983 (GRCm39) |
D249G |
possibly damaging |
Het |
| Esr1 |
A |
T |
10: 4,696,622 (GRCm39) |
N157I |
possibly damaging |
Het |
| Esrrg |
A |
G |
1: 187,930,904 (GRCm39) |
M309V |
probably benign |
Het |
| Fam120b |
G |
A |
17: 15,622,172 (GRCm39) |
R50Q |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,201,129 (GRCm39) |
Y648* |
probably null |
Het |
| Gbp2b |
T |
A |
3: 142,309,414 (GRCm39) |
I175N |
probably benign |
Het |
| Gm1043 |
T |
A |
5: 37,311,952 (GRCm39) |
|
probably benign |
Het |
| Gm21060 |
A |
G |
19: 61,285,411 (GRCm39) |
C33R |
possibly damaging |
Het |
| Gpx6 |
C |
T |
13: 21,496,510 (GRCm39) |
S28L |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Ifi44 |
T |
C |
3: 151,455,195 (GRCm39) |
Q10R |
probably benign |
Het |
| Impa2 |
T |
C |
18: 67,451,498 (GRCm39) |
V264A |
probably benign |
Het |
| Khdc1a |
A |
T |
1: 21,421,108 (GRCm39) |
M98L |
probably benign |
Het |
| Lrrc45 |
T |
A |
11: 120,611,474 (GRCm39) |
L616* |
probably null |
Het |
| Mios |
A |
T |
6: 8,215,704 (GRCm39) |
H300L |
probably benign |
Het |
| Mllt6 |
A |
T |
11: 97,568,051 (GRCm39) |
T827S |
probably damaging |
Het |
| Mrc1 |
C |
A |
2: 14,321,712 (GRCm39) |
D1068E |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,346,168 (GRCm39) |
Y702C |
probably damaging |
Het |
| Nek11 |
T |
A |
9: 105,082,087 (GRCm39) |
|
probably null |
Het |
| Nek4 |
T |
C |
14: 30,678,890 (GRCm39) |
F138S |
probably damaging |
Het |
| Nfatc4 |
T |
A |
14: 56,069,897 (GRCm39) |
Y688* |
probably null |
Het |
| Nlrx1 |
C |
T |
9: 44,175,057 (GRCm39) |
V240M |
probably damaging |
Het |
| Npy6r |
A |
T |
18: 44,409,149 (GRCm39) |
Y190F |
probably benign |
Het |
| Or10ab5 |
A |
C |
7: 108,245,433 (GRCm39) |
S117A |
possibly damaging |
Het |
| Or10d4b |
T |
C |
9: 39,534,637 (GRCm39) |
F71L |
probably damaging |
Het |
| Or1j10 |
T |
G |
2: 36,267,556 (GRCm39) |
L256R |
probably damaging |
Het |
| Or52b4i |
C |
A |
7: 102,191,817 (GRCm39) |
R225S |
probably benign |
Het |
| Or5p52 |
A |
G |
7: 107,502,620 (GRCm39) |
E232G |
probably benign |
Het |
| Or6c68 |
A |
T |
10: 129,158,238 (GRCm39) |
T249S |
probably benign |
Het |
| Osbpl7 |
A |
C |
11: 96,943,087 (GRCm39) |
H113P |
probably benign |
Het |
| Pam16l |
C |
T |
10: 43,400,252 (GRCm39) |
A30V |
probably benign |
Het |
| Pck1 |
A |
G |
2: 172,996,650 (GRCm39) |
E188G |
probably benign |
Het |
| Pimreg |
A |
G |
11: 71,936,576 (GRCm39) |
D213G |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,769,976 (GRCm39) |
I1160T |
probably damaging |
Het |
| Ppargc1b |
G |
A |
18: 61,441,005 (GRCm39) |
Q622* |
probably null |
Het |
| Ppfia2 |
T |
A |
10: 106,742,338 (GRCm39) |
C1044S |
probably damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,024,659 (GRCm39) |
V280A |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,068,245 (GRCm39) |
N1764D |
probably benign |
Het |
| Pygm |
C |
T |
19: 6,438,842 (GRCm39) |
R311C |
possibly damaging |
Het |
| Rab7b |
A |
G |
1: 131,626,299 (GRCm39) |
K109R |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Setbp1 |
T |
G |
18: 78,900,926 (GRCm39) |
I914L |
probably benign |
Het |
| Shprh |
A |
C |
10: 11,027,735 (GRCm39) |
Q114P |
probably benign |
Het |
| Slc5a9 |
T |
C |
4: 111,742,725 (GRCm39) |
I456V |
possibly damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,657,985 (GRCm39) |
|
probably null |
Het |
| Spin1 |
T |
A |
13: 51,293,552 (GRCm39) |
Y87* |
probably null |
Het |
| Spring1 |
T |
C |
5: 118,393,798 (GRCm39) |
W59R |
probably damaging |
Het |
| Srebf2 |
T |
C |
15: 82,061,477 (GRCm39) |
|
probably null |
Het |
| Sufu |
T |
C |
19: 46,463,978 (GRCm39) |
Y397H |
probably damaging |
Het |
| Tgfb3 |
A |
C |
12: 86,110,624 (GRCm39) |
V242G |
probably benign |
Het |
| Tgm3 |
A |
T |
2: 129,883,920 (GRCm39) |
Y526F |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,482,967 (GRCm39) |
L508P |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,063,799 (GRCm39) |
D454G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,646,943 (GRCm39) |
E3280G |
possibly damaging |
Het |
| Tusc3 |
G |
C |
8: 39,538,560 (GRCm39) |
G200R |
probably damaging |
Het |
| Umps |
A |
G |
16: 33,782,508 (GRCm39) |
V138A |
probably benign |
Het |
| Ypel1 |
A |
G |
16: 16,902,377 (GRCm39) |
|
probably null |
Het |
| Zdhhc19 |
T |
A |
16: 32,317,860 (GRCm39) |
L63Q |
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 |
|
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'- ATACAGCCTGCACACATGG -3'
(R):5'- GATACTCAGGGACATGCAGC -3'
Sequencing Primer
(F):5'- TGCACACATGGGTCAAGC -3'
(R):5'- GACATGCAGCCGCCAAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation