Incidental Mutation 'R1164:Atp4a'
ID |
100822 |
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 |
039237-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R1164 (G1)
|
Quality Score |
199 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
30411634-30424959 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30417117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 500
(L500Q)
|
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: L500Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000005692 Gene: ENSMUSG00000005553 AA Change: L500Q
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: L500Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000131964 Gene: ENSMUSG00000005553 AA Change: L500Q
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: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,621,305 (GRCm39) |
M1055K |
probably damaging |
Het |
Adprh |
A |
T |
16: 38,270,702 (GRCm39) |
D34E |
probably benign |
Het |
Aldh1a1 |
A |
T |
19: 20,595,310 (GRCm39) |
M80L |
probably benign |
Het |
Arap2 |
T |
A |
5: 62,840,820 (GRCm39) |
D682V |
probably damaging |
Het |
Atp6v1c2 |
T |
C |
12: 17,358,317 (GRCm39) |
E10G |
probably damaging |
Het |
B4galt2 |
G |
A |
4: 117,734,141 (GRCm39) |
R299W |
possibly damaging |
Het |
Bltp3a |
T |
C |
17: 28,114,354 (GRCm39) |
|
probably null |
Het |
Brinp1 |
A |
C |
4: 68,716,928 (GRCm39) |
S307A |
probably benign |
Het |
Cacna2d1 |
G |
A |
5: 16,566,874 (GRCm39) |
|
probably null |
Het |
Ccdc3 |
T |
C |
2: 5,146,077 (GRCm39) |
V137A |
possibly damaging |
Het |
Ccnb1ip1 |
T |
C |
14: 51,029,594 (GRCm39) |
K156R |
possibly damaging |
Het |
Cfap77 |
A |
T |
2: 28,852,700 (GRCm39) |
W191R |
probably damaging |
Het |
Chga |
A |
G |
12: 102,529,304 (GRCm39) |
E427G |
probably damaging |
Het |
Chrnd |
A |
T |
1: 87,120,267 (GRCm39) |
Y32F |
probably benign |
Het |
Cks1b |
C |
A |
3: 89,323,249 (GRCm39) |
|
probably benign |
Het |
Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
Dip2a |
C |
A |
10: 76,112,231 (GRCm39) |
R1098L |
possibly damaging |
Het |
Dmbx1 |
T |
A |
4: 115,775,455 (GRCm39) |
H275L |
probably damaging |
Het |
Dmrt2 |
A |
G |
19: 25,655,357 (GRCm39) |
M319V |
possibly damaging |
Het |
Dock8 |
A |
G |
19: 25,067,391 (GRCm39) |
Y345C |
probably benign |
Het |
Dpp6 |
A |
G |
5: 27,926,103 (GRCm39) |
T668A |
probably benign |
Het |
Eef1d |
A |
G |
15: 75,774,526 (GRCm39) |
|
probably null |
Het |
Epb41l3 |
A |
G |
17: 69,581,762 (GRCm39) |
T568A |
possibly damaging |
Het |
Erc2 |
A |
G |
14: 28,024,929 (GRCm39) |
R603G |
probably damaging |
Het |
Fam83d |
T |
C |
2: 158,625,170 (GRCm39) |
S254P |
probably damaging |
Het |
Fcgr4 |
A |
T |
1: 170,856,739 (GRCm39) |
H202L |
possibly damaging |
Het |
Gm4922 |
C |
T |
10: 18,659,469 (GRCm39) |
A418T |
possibly damaging |
Het |
Kmo |
A |
G |
1: 175,486,125 (GRCm39) |
H416R |
probably benign |
Het |
Lao1 |
A |
G |
4: 118,822,602 (GRCm39) |
N174S |
probably benign |
Het |
Lrwd1 |
A |
T |
5: 136,159,844 (GRCm39) |
H406Q |
probably benign |
Het |
Magoh |
A |
G |
4: 107,744,459 (GRCm39) |
I143V |
probably benign |
Het |
Mpz |
A |
G |
1: 170,986,008 (GRCm39) |
H49R |
possibly damaging |
Het |
Nav1 |
T |
C |
1: 135,400,148 (GRCm39) |
N474S |
probably benign |
Het |
Ndufb10 |
T |
G |
17: 24,941,757 (GRCm39) |
E68D |
probably benign |
Het |
Obscn |
T |
C |
11: 58,926,913 (GRCm39) |
D5534G |
possibly damaging |
Het |
Or13c7d |
T |
C |
4: 43,770,991 (GRCm39) |
T7A |
probably benign |
Het |
Or14j5 |
T |
A |
17: 38,161,575 (GRCm39) |
F31I |
probably damaging |
Het |
Or1j16 |
A |
T |
2: 36,530,132 (GRCm39) |
Y27F |
probably benign |
Het |
Or4d10 |
A |
T |
19: 12,051,605 (GRCm39) |
Y130* |
probably null |
Het |
Or52l1 |
A |
T |
7: 104,830,040 (GRCm39) |
F160Y |
probably benign |
Het |
Or8k30 |
C |
A |
2: 86,339,028 (GRCm39) |
T75K |
probably damaging |
Het |
Padi1 |
A |
T |
4: 140,559,640 (GRCm39) |
V79E |
possibly damaging |
Het |
Pdha2 |
A |
G |
3: 140,917,260 (GRCm39) |
Y83H |
probably damaging |
Het |
Phpt1 |
A |
G |
2: 25,464,727 (GRCm39) |
I42T |
probably damaging |
Het |
Pot1b |
A |
C |
17: 55,981,085 (GRCm39) |
S310A |
probably benign |
Het |
Ptpn13 |
G |
A |
5: 103,637,639 (GRCm39) |
V176I |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,114,689 (GRCm39) |
S189P |
probably damaging |
Het |
Rere |
A |
T |
4: 150,619,341 (GRCm39) |
Q381L |
unknown |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Scn8a |
G |
A |
15: 100,938,043 (GRCm39) |
C1804Y |
probably benign |
Het |
Sema3c |
G |
A |
5: 17,883,312 (GRCm39) |
D307N |
probably benign |
Het |
Siah2 |
T |
C |
3: 58,583,737 (GRCm39) |
E183G |
probably benign |
Het |
Smarca5 |
G |
A |
8: 81,437,260 (GRCm39) |
L699F |
probably damaging |
Het |
Smo |
T |
A |
6: 29,754,718 (GRCm39) |
S263T |
probably benign |
Het |
Sox2 |
A |
G |
3: 34,704,848 (GRCm39) |
E95G |
probably damaging |
Het |
T |
T |
C |
17: 8,658,771 (GRCm39) |
S171P |
probably benign |
Het |
Tmc7 |
G |
T |
7: 118,141,247 (GRCm39) |
A628D |
probably benign |
Het |
Tmem45a2 |
A |
G |
16: 56,869,789 (GRCm39) |
S52P |
probably damaging |
Het |
Tubb3 |
C |
T |
8: 124,148,186 (GRCm39) |
A373V |
probably damaging |
Het |
Upp2 |
A |
G |
2: 58,653,716 (GRCm39) |
Y69C |
probably damaging |
Het |
Utp4 |
A |
G |
8: 107,627,476 (GRCm39) |
|
probably null |
Het |
Vmn1r59 |
T |
A |
7: 5,457,410 (GRCm39) |
M117L |
probably benign |
Het |
Xkr8 |
T |
C |
4: 132,459,722 (GRCm39) |
S19G |
probably benign |
Het |
Zbed6 |
G |
A |
1: 133,586,941 (GRCm39) |
T132I |
probably damaging |
Het |
Zbtb24 |
T |
C |
10: 41,340,523 (GRCm39) |
Y518H |
probably damaging |
Het |
Zfp324 |
T |
C |
7: 12,705,551 (GRCm39) |
I580T |
probably benign |
Het |
Zfp995 |
G |
A |
17: 22,098,960 (GRCm39) |
H425Y |
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 |
|
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 |
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 |
|
Posted On |
2014-01-15 |