Incidental Mutation 'R9324:Atp4a'
| ID |
706382 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R9324 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30411634-30424959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 30415207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 276
(I276L)
|
| 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: I276L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: I276L
| 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 |
probably benign
Transcript: ENSMUST00000170371
AA Change: I276L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: I276L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
G |
7: 119,179,856 (GRCm39) |
H358R |
probably benign |
Het |
| Arid3c |
A |
G |
4: 41,730,138 (GRCm39) |
L19S |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 111,986,765 (GRCm39) |
D262V |
probably damaging |
Het |
| Axl |
C |
G |
7: 25,460,982 (GRCm39) |
E676Q |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,055,118 (GRCm39) |
D193G |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,789,005 (GRCm39) |
V274A |
probably damaging |
Het |
| Efcab5 |
T |
A |
11: 77,004,546 (GRCm39) |
H924L |
possibly damaging |
Het |
| Eif1ad7 |
T |
A |
12: 88,238,709 (GRCm39) |
N17I |
unknown |
Het |
| Eif3l |
T |
A |
15: 78,978,423 (GRCm39) |
M560K |
probably benign |
Het |
| Fam234b |
C |
A |
6: 135,202,793 (GRCm39) |
Y382* |
probably null |
Het |
| Fbxw19 |
T |
C |
9: 109,313,440 (GRCm39) |
K253E |
possibly damaging |
Het |
| Fhip1a |
T |
C |
3: 85,638,053 (GRCm39) |
D82G |
probably benign |
Het |
| Flt3 |
A |
G |
5: 147,313,790 (GRCm39) |
S87P |
probably benign |
Het |
| Garin3 |
A |
T |
11: 46,295,810 (GRCm39) |
I61F |
|
Het |
| Ggnbp2 |
A |
G |
11: 84,725,174 (GRCm39) |
L627S |
probably damaging |
Het |
| Gm26661 |
T |
G |
14: 7,791,765 (GRCm38) |
V60G |
unknown |
Het |
| Golt1a |
T |
C |
1: 133,247,094 (GRCm39) |
L34P |
probably damaging |
Het |
| Gp5 |
T |
C |
16: 30,127,808 (GRCm39) |
M289V |
possibly damaging |
Het |
| Gpr63 |
C |
G |
4: 25,008,432 (GRCm39) |
H385Q |
possibly damaging |
Het |
| Hcn1 |
G |
A |
13: 118,111,901 (GRCm39) |
V622I |
unknown |
Het |
| Hipk4 |
A |
G |
7: 27,228,834 (GRCm39) |
D428G |
probably damaging |
Het |
| Hs3st1 |
T |
C |
5: 39,772,145 (GRCm39) |
Y166C |
probably damaging |
Het |
| Hsd17b3 |
A |
G |
13: 64,206,459 (GRCm39) |
F281S |
possibly damaging |
Het |
| Ifih1 |
T |
C |
2: 62,475,950 (GRCm39) |
T109A |
probably benign |
Het |
| Ighv1-64 |
T |
A |
12: 115,471,645 (GRCm39) |
|
probably benign |
Het |
| Ina |
T |
C |
19: 47,003,816 (GRCm39) |
L208P |
|
Het |
| Iqcn |
C |
T |
8: 71,161,794 (GRCm39) |
T329I |
possibly damaging |
Het |
| Irak2 |
T |
C |
6: 113,615,604 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
G |
A |
11: 100,338,481 (GRCm39) |
E407K |
probably benign |
Het |
| Krt81 |
A |
G |
15: 101,361,335 (GRCm39) |
S82P |
probably damaging |
Het |
| Ktn1 |
C |
A |
14: 47,948,353 (GRCm39) |
Q963K |
probably benign |
Het |
| Lgalsl2 |
G |
A |
7: 5,362,527 (GRCm39) |
V53I |
possibly damaging |
Het |
| Lrrc42 |
A |
T |
4: 107,104,913 (GRCm39) |
Y17* |
probably null |
Het |
| Lrrc9 |
A |
C |
12: 72,496,171 (GRCm39) |
E15D |
probably damaging |
Het |
| Mak |
G |
A |
13: 41,202,839 (GRCm39) |
T203I |
probably benign |
Het |
| Masp2 |
T |
C |
4: 148,692,485 (GRCm39) |
V326A |
possibly damaging |
Het |
| Mdc1 |
T |
C |
17: 36,164,258 (GRCm39) |
S1269P |
probably benign |
Het |
| Mink1 |
G |
A |
11: 70,502,477 (GRCm39) |
V1027M |
probably damaging |
Het |
| Mrps10 |
C |
A |
17: 47,686,903 (GRCm39) |
S123* |
probably null |
Het |
| Myl10 |
C |
T |
5: 136,729,787 (GRCm39) |
H142Y |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,560,648 (GRCm39) |
Q773R |
possibly damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,434,141 (GRCm39) |
M68K |
probably damaging |
Het |
| Ntrk1 |
C |
T |
3: 87,698,745 (GRCm39) |
V99M |
possibly damaging |
Het |
| Odad3 |
T |
C |
9: 21,903,207 (GRCm39) |
E402G |
probably damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,787 (GRCm39) |
T237I |
probably damaging |
Het |
| Or5an1 |
A |
G |
19: 12,260,939 (GRCm39) |
R176G |
probably benign |
Het |
| Or8c8 |
A |
G |
9: 38,164,962 (GRCm39) |
K80R |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,595,437 (GRCm39) |
V830A |
probably damaging |
Het |
| Phospho2 |
T |
C |
2: 69,625,913 (GRCm39) |
V23A |
probably damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,780,685 (GRCm39) |
|
probably benign |
Het |
| Ppcdc |
T |
C |
9: 57,342,280 (GRCm39) |
E14G |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,302,645 (GRCm39) |
Y106C |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,087,544 (GRCm39) |
Q582R |
probably benign |
Het |
| Rngtt |
T |
A |
4: 33,320,613 (GRCm39) |
Y53* |
probably null |
Het |
| Slc12a3 |
T |
G |
8: 95,083,028 (GRCm39) |
|
probably null |
Het |
| Slc26a11 |
A |
G |
11: 119,267,730 (GRCm39) |
T456A |
probably benign |
Het |
| Slc26a5 |
G |
T |
5: 22,018,334 (GRCm39) |
A677E |
possibly damaging |
Het |
| Smurf1 |
T |
C |
5: 144,817,463 (GRCm39) |
T690A |
probably benign |
Het |
| Spata24 |
A |
T |
18: 35,790,064 (GRCm39) |
N142K |
probably damaging |
Het |
| Ubqlnl |
A |
T |
7: 103,798,962 (GRCm39) |
N178K |
possibly damaging |
Het |
| Uggt2 |
A |
G |
14: 119,312,741 (GRCm39) |
|
probably null |
Het |
| Vmn1r2 |
C |
A |
4: 3,172,678 (GRCm39) |
A199D |
probably damaging |
Het |
| Vmn2r39 |
T |
C |
7: 9,030,684 (GRCm39) |
N128S |
probably damaging |
Het |
| Vmn2r61 |
G |
T |
7: 41,916,619 (GRCm39) |
V411F |
probably benign |
Het |
| Vmn2r-ps117 |
T |
A |
17: 19,042,911 (GRCm39) |
F106L |
probably benign |
Het |
| Zfp503 |
A |
T |
14: 22,035,353 (GRCm39) |
I521N |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,547,113 (GRCm39) |
V1432A |
probably benign |
Het |
| Zfp981 |
T |
A |
4: 146,619,884 (GRCm39) |
L13I |
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 |
|
|
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 |
|
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'- TCTGGAGGGTCTGTGAAGCATC -3'
(R):5'- GCCATGAAGAAGACCATGGC -3'
Sequencing Primer
(F):5'- AAGCATCGTTAGCCTGTCCTGAAG -3'
(R):5'- GAAGACCATGGCCCGAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation