Incidental Mutation 'R4907:Atp4a'
| ID |
379108 |
| 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 |
042509-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R4907 (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 30418517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 602
(I602V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005692]
[ENSMUST00000170371]
[ENSMUST00000171014]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005692
AA Change: I602V
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: I602V
| 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 |
possibly damaging
Transcript: ENSMUST00000170371
AA Change: I602V
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: I602V
| 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 |
0.1690 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
98% (89/91) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
G |
T |
1: 57,422,350 (GRCm39) |
G242V |
probably damaging |
Het |
| 4933412E24Rik |
T |
C |
15: 59,887,957 (GRCm39) |
E161G |
probably benign |
Het |
| Abcc5 |
A |
G |
16: 20,195,296 (GRCm39) |
S734P |
possibly damaging |
Het |
| Actn1 |
T |
G |
12: 80,228,188 (GRCm39) |
H394P |
probably damaging |
Het |
| Adam8 |
A |
T |
7: 139,569,286 (GRCm39) |
D144E |
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,510,824 (GRCm39) |
N514K |
probably damaging |
Het |
| Ankrd50 |
T |
A |
3: 38,509,122 (GRCm39) |
K1082* |
probably null |
Het |
| Baz2a |
A |
G |
10: 127,946,677 (GRCm39) |
T64A |
probably damaging |
Het |
| Btbd19 |
A |
G |
4: 116,977,764 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,028,998 (GRCm39) |
S1148T |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,284,007 (GRCm39) |
D103E |
probably benign |
Het |
| Cd209d |
T |
C |
8: 3,927,948 (GRCm39) |
N52S |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 110,066,053 (GRCm39) |
Y776N |
probably damaging |
Het |
| Cdk14 |
A |
G |
5: 5,299,140 (GRCm39) |
V101A |
probably damaging |
Het |
| Cldn22 |
T |
C |
8: 48,277,742 (GRCm39) |
V60A |
probably benign |
Het |
| Clec10a |
G |
A |
11: 70,060,797 (GRCm39) |
G183D |
probably benign |
Het |
| Cnga3 |
T |
C |
1: 37,281,023 (GRCm39) |
|
probably null |
Het |
| Cts3 |
A |
T |
13: 61,714,634 (GRCm39) |
F224I |
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,922,472 (GRCm39) |
|
probably null |
Het |
| Fbxo40 |
A |
G |
16: 36,790,064 (GRCm39) |
Y349H |
probably benign |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Gm10029 |
A |
T |
13: 6,712,592 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14399 |
T |
A |
2: 174,973,182 (GRCm39) |
|
probably benign |
Het |
| Gm9932 |
T |
C |
5: 100,347,014 (GRCm39) |
|
noncoding transcript |
Het |
| Immp1l |
A |
G |
2: 105,767,462 (GRCm39) |
Y107C |
probably damaging |
Het |
| Ism1 |
G |
T |
2: 139,520,672 (GRCm39) |
G28V |
probably benign |
Het |
| Klf1 |
C |
A |
8: 85,629,814 (GRCm39) |
S213* |
probably null |
Het |
| Krt12 |
T |
C |
11: 99,309,188 (GRCm39) |
E329G |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,040,942 (GRCm39) |
N1460K |
probably benign |
Het |
| Llgl2 |
T |
A |
11: 115,744,800 (GRCm39) |
Y932* |
probably null |
Het |
| Lrrc7 |
T |
C |
3: 157,866,877 (GRCm39) |
I955V |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,312,899 (GRCm39) |
R7G |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,329,275 (GRCm39) |
E1152G |
probably damaging |
Het |
| Mgam2-ps |
T |
C |
6: 40,811,677 (GRCm39) |
|
noncoding transcript |
Het |
| Mical3 |
T |
A |
6: 120,984,259 (GRCm39) |
M206L |
probably benign |
Het |
| Mndal |
T |
G |
1: 173,690,256 (GRCm39) |
N358T |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,953,889 (GRCm39) |
S824P |
possibly damaging |
Het |
| Ndufb2 |
T |
C |
6: 39,573,554 (GRCm39) |
|
probably benign |
Het |
| Nfatc3 |
C |
A |
8: 106,806,359 (GRCm39) |
H401Q |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,401,066 (GRCm39) |
V810A |
unknown |
Het |
| Nt5c2 |
A |
G |
19: 46,884,978 (GRCm39) |
V245A |
possibly damaging |
Het |
| Or1j4 |
A |
T |
2: 36,740,270 (GRCm39) |
I71F |
probably benign |
Het |
| Or4d5 |
A |
T |
9: 40,011,955 (GRCm39) |
M277K |
probably benign |
Het |
| Or51ah3 |
A |
G |
7: 103,210,241 (GRCm39) |
M186V |
possibly damaging |
Het |
| Or52h9 |
A |
G |
7: 104,202,518 (GRCm39) |
R131G |
probably damaging |
Het |
| Or5b109 |
A |
G |
19: 13,212,157 (GRCm39) |
D181G |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,536,005 (GRCm39) |
|
probably null |
Het |
| Pck1 |
C |
T |
2: 172,998,816 (GRCm39) |
T358I |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,730,065 (GRCm39) |
|
probably benign |
Het |
| Pgm2 |
T |
A |
5: 64,261,221 (GRCm39) |
F238L |
probably benign |
Het |
| Pgr |
G |
A |
9: 8,947,044 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,367,475 (GRCm39) |
V1224E |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,142,581 (GRCm39) |
V487A |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,279,450 (GRCm39) |
D2956G |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,390,703 (GRCm39) |
|
probably null |
Het |
| Rgs22 |
T |
A |
15: 36,087,570 (GRCm39) |
L573F |
possibly damaging |
Het |
| Rufy3 |
T |
G |
5: 88,732,051 (GRCm39) |
I18S |
possibly damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,503,505 (GRCm39) |
L393P |
probably damaging |
Het |
| Snw1 |
T |
C |
12: 87,506,259 (GRCm39) |
I214V |
probably benign |
Het |
| Sorbs1 |
G |
A |
19: 40,328,491 (GRCm39) |
Q595* |
probably null |
Het |
| Spata21 |
T |
A |
4: 140,824,432 (GRCm39) |
|
probably null |
Het |
| Ss18l1 |
G |
T |
2: 179,705,192 (GRCm39) |
|
probably null |
Het |
| Tmem163 |
A |
T |
1: 127,447,107 (GRCm39) |
L176H |
probably damaging |
Het |
| Tpd52 |
T |
C |
3: 9,009,668 (GRCm39) |
|
probably null |
Het |
| Tpsab1 |
T |
A |
17: 25,562,436 (GRCm39) |
Y297F |
possibly damaging |
Het |
| Trim55 |
A |
G |
3: 19,728,538 (GRCm39) |
T450A |
probably benign |
Het |
| Ttf1 |
C |
T |
2: 28,954,668 (GRCm39) |
H11Y |
possibly damaging |
Het |
| Txndc11 |
A |
T |
16: 10,906,398 (GRCm39) |
H377Q |
probably benign |
Het |
| Usp17la |
A |
G |
7: 104,510,355 (GRCm39) |
Y320C |
probably damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,770,348 (GRCm39) |
N547D |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,350,150 (GRCm39) |
|
probably null |
Het |
| Wdr33 |
T |
C |
18: 32,040,046 (GRCm39) |
*1331Q |
probably null |
Het |
| Wdr90 |
T |
A |
17: 26,079,624 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
T |
C |
14: 70,908,069 (GRCm39) |
M903V |
probably benign |
Het |
| Zfhx3 |
T |
A |
8: 109,519,986 (GRCm39) |
S369R |
probably damaging |
Het |
| Zfp808 |
T |
C |
13: 62,319,287 (GRCm39) |
F172S |
possibly damaging |
Het |
| Zfp821 |
A |
G |
8: 110,450,625 (GRCm39) |
E55G |
probably benign |
Het |
| Zfp964 |
T |
C |
8: 70,115,972 (GRCm39) |
Y191H |
possibly damaging |
Het |
| Zfyve1 |
T |
C |
12: 83,621,646 (GRCm39) |
T250A |
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 |
|
|
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 |
|
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'- AGGATGGATTCAAGATCTGGC -3'
(R):5'- CAAACAGCTTAGCCGGGAAG -3'
Sequencing Primer
(F):5'- GGCATCCAGGGACCTGATTATTTC -3'
(R):5'- TTAGCCGGGAAGCATCCTTC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation