Incidental Mutation 'R5340:Atp4a'
ID |
422282 |
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 |
042919-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R5340 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
30411634-30424959 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30420231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 793
(I793V)
|
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: I802V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000005692 Gene: ENSMUSG00000005553 AA Change: I802V
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: I793V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000131964 Gene: ENSMUSG00000005553 AA Change: I793V
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: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp7 |
T |
C |
4: 41,034,347 (GRCm39) |
R271G |
probably benign |
Het |
Baz2a |
C |
T |
10: 127,950,911 (GRCm39) |
R535C |
probably damaging |
Het |
BC034090 |
T |
C |
1: 155,102,160 (GRCm39) |
T35A |
possibly damaging |
Het |
Bnip1 |
T |
C |
17: 27,005,764 (GRCm39) |
|
probably null |
Het |
Ccdc136 |
A |
G |
6: 29,411,859 (GRCm39) |
S369G |
possibly damaging |
Het |
Csrnp3 |
A |
G |
2: 65,852,781 (GRCm39) |
D391G |
probably benign |
Het |
Ctbp2 |
G |
T |
7: 132,615,692 (GRCm39) |
H414Q |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,189,603 (GRCm39) |
I15T |
probably benign |
Het |
Dync2li1 |
A |
G |
17: 84,957,130 (GRCm39) |
|
probably null |
Het |
Eri3 |
A |
T |
4: 117,530,991 (GRCm39) |
I329F |
probably damaging |
Het |
Flii |
T |
A |
11: 60,608,094 (GRCm39) |
I786F |
probably damaging |
Het |
Fmo1 |
A |
T |
1: 162,657,551 (GRCm39) |
I530N |
probably benign |
Het |
Gm28042 |
T |
C |
2: 119,871,929 (GRCm39) |
S960P |
probably benign |
Het |
Gzmm |
C |
A |
10: 79,530,907 (GRCm39) |
F236L |
probably benign |
Het |
H2bl1 |
C |
T |
13: 99,120,951 (GRCm39) |
R25H |
possibly damaging |
Het |
Igkv4-55 |
A |
G |
6: 69,584,489 (GRCm39) |
V41A |
probably damaging |
Het |
Ipo9 |
A |
G |
1: 135,313,170 (GRCm39) |
Y1020H |
probably benign |
Het |
Masp1 |
T |
C |
16: 23,276,858 (GRCm39) |
Y549C |
probably damaging |
Het |
Mblac1 |
A |
T |
5: 138,192,840 (GRCm39) |
S61C |
probably damaging |
Het |
Mical1 |
T |
A |
10: 41,359,427 (GRCm39) |
|
probably null |
Het |
Mroh9 |
C |
T |
1: 162,908,156 (GRCm39) |
|
probably benign |
Het |
Mta2 |
T |
C |
19: 8,919,720 (GRCm39) |
M1T |
probably null |
Het |
Neb |
A |
G |
2: 52,113,060 (GRCm39) |
Y4245H |
probably damaging |
Het |
Or11j4 |
T |
C |
14: 50,630,677 (GRCm39) |
F155L |
probably damaging |
Het |
Or4c52 |
T |
C |
2: 89,845,706 (GRCm39) |
V144A |
probably benign |
Het |
Otulinl |
T |
C |
15: 27,658,175 (GRCm39) |
M282V |
possibly damaging |
Het |
Pak2 |
G |
T |
16: 31,853,764 (GRCm39) |
|
probably null |
Het |
Phc3 |
A |
T |
3: 30,961,616 (GRCm39) |
F939I |
probably damaging |
Het |
Prss3l |
T |
C |
6: 41,422,307 (GRCm39) |
N33D |
probably benign |
Het |
Rogdi |
C |
A |
16: 4,831,225 (GRCm39) |
R14L |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,664,470 (GRCm39) |
Y1627C |
probably damaging |
Het |
Scrn3 |
A |
T |
2: 73,166,154 (GRCm39) |
K396* |
probably null |
Het |
Sh3pxd2a |
T |
C |
19: 47,256,670 (GRCm39) |
N683D |
probably benign |
Het |
Smtnl1 |
T |
A |
2: 84,645,785 (GRCm39) |
H362L |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,210,479 (GRCm39) |
S927G |
probably benign |
Het |
Tcaf1 |
A |
G |
6: 42,655,923 (GRCm39) |
V351A |
probably damaging |
Het |
Tmem232 |
C |
T |
17: 65,709,993 (GRCm39) |
V432M |
possibly damaging |
Het |
Ttll11 |
G |
T |
2: 35,792,801 (GRCm39) |
H347Q |
probably damaging |
Het |
Vmn2r56 |
A |
C |
7: 12,449,799 (GRCm39) |
D146E |
probably damaging |
Het |
Wwp1 |
A |
G |
4: 19,638,773 (GRCm39) |
|
probably null |
Het |
Zcchc7 |
T |
A |
4: 44,762,245 (GRCm39) |
N124K |
probably benign |
Het |
Zfp667 |
A |
G |
7: 6,308,252 (GRCm39) |
T307A |
possibly damaging |
Het |
Zfp709 |
T |
A |
8: 72,643,596 (GRCm39) |
C342S |
probably damaging |
Het |
Zfp940 |
A |
G |
7: 29,544,266 (GRCm39) |
V547A |
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 |
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 |
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'- TGCTTCCATTGTGACAGGCG -3'
(R):5'- CAACCTCTGCGTCTATTTCTGAATG -3'
Sequencing Primer
(F):5'- CCATTGTGACAGGCGTGGAG -3'
(R):5'- GCGTCTATTTCTGAATGCCTATCG -3'
|
Posted On |
2016-08-04 |