Incidental Mutation 'IGL01327:Atp4a'
ID |
74332 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
IGL01327
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
30411634-30424959 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30412675 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 127
(I127N)
|
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: I127N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000005692 Gene: ENSMUSG00000005553 AA Change: I127N
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: ENSMUST00000085702
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167761
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170371
AA Change: I127N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000131964 Gene: ENSMUSG00000005553 AA Change: I127N
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 |
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
T |
A |
4: 148,029,521 (GRCm39) |
V497E |
probably damaging |
Het |
Adcy7 |
T |
G |
8: 89,045,418 (GRCm39) |
|
probably benign |
Het |
Aldh1a2 |
T |
A |
9: 71,193,248 (GRCm39) |
F486I |
possibly damaging |
Het |
Alox12 |
T |
A |
11: 70,145,375 (GRCm39) |
H66L |
probably benign |
Het |
Apoh |
T |
G |
11: 108,288,187 (GRCm39) |
Y102D |
probably damaging |
Het |
Arl9 |
T |
C |
5: 77,154,401 (GRCm39) |
V43A |
possibly damaging |
Het |
Atf6 |
A |
G |
1: 170,616,175 (GRCm39) |
|
probably null |
Het |
AY358078 |
T |
A |
14: 52,043,166 (GRCm39) |
|
probably benign |
Het |
Baat |
T |
G |
4: 49,490,338 (GRCm39) |
K249Q |
probably damaging |
Het |
Brat1 |
C |
T |
5: 140,703,963 (GRCm39) |
Q739* |
probably null |
Het |
C8g |
A |
G |
2: 25,389,089 (GRCm39) |
F165L |
probably damaging |
Het |
Cel |
T |
G |
2: 28,447,967 (GRCm39) |
D353A |
possibly damaging |
Het |
Col6a1 |
G |
T |
10: 76,546,813 (GRCm39) |
T803K |
unknown |
Het |
Cpxm1 |
A |
G |
2: 130,238,277 (GRCm39) |
L95P |
probably benign |
Het |
Ctsr |
A |
G |
13: 61,310,489 (GRCm39) |
|
probably benign |
Het |
Cyth1 |
A |
G |
11: 118,084,439 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
A |
T |
12: 110,583,126 (GRCm39) |
|
probably benign |
Het |
Ezh1 |
C |
T |
11: 101,094,262 (GRCm39) |
C407Y |
probably damaging |
Het |
Fam243 |
T |
C |
16: 92,117,661 (GRCm39) |
Y209C |
probably benign |
Het |
Gm3696 |
A |
T |
14: 18,435,903 (GRCm39) |
W38R |
probably benign |
Het |
Gm9611 |
T |
C |
14: 42,116,622 (GRCm39) |
T39A |
possibly damaging |
Het |
Gnpat |
T |
A |
8: 125,605,372 (GRCm39) |
L287H |
probably damaging |
Het |
Golm1 |
G |
T |
13: 59,792,958 (GRCm39) |
N182K |
possibly damaging |
Het |
Hdac6 |
T |
C |
X: 7,798,013 (GRCm39) |
M899V |
probably benign |
Het |
Hsf3 |
T |
A |
X: 95,358,578 (GRCm39) |
M272L |
probably benign |
Het |
Kif19a |
C |
T |
11: 114,672,625 (GRCm39) |
|
probably benign |
Het |
Lcn2 |
T |
G |
2: 32,276,030 (GRCm39) |
Y100S |
possibly damaging |
Het |
Lrrc8d |
T |
A |
5: 105,960,131 (GRCm39) |
S180R |
probably damaging |
Het |
Ly6h |
A |
G |
15: 75,436,948 (GRCm39) |
|
probably benign |
Het |
Macf1 |
T |
C |
4: 123,403,705 (GRCm39) |
N705D |
probably benign |
Het |
Mst1r |
C |
T |
9: 107,785,043 (GRCm39) |
P234S |
probably benign |
Het |
Msto1 |
T |
A |
3: 88,817,939 (GRCm39) |
|
probably null |
Het |
Myo5a |
T |
A |
9: 75,094,820 (GRCm39) |
|
probably benign |
Het |
Nipa1 |
T |
C |
7: 55,629,409 (GRCm39) |
I235V |
probably benign |
Het |
Nlgn3 |
T |
C |
X: 100,362,228 (GRCm39) |
V399A |
probably benign |
Het |
Or1d2 |
T |
A |
11: 74,255,738 (GRCm39) |
M81K |
possibly damaging |
Het |
Or2b28 |
A |
G |
13: 21,531,377 (GRCm39) |
N93S |
probably benign |
Het |
Pih1d1 |
T |
C |
7: 44,809,399 (GRCm39) |
S289P |
probably benign |
Het |
Ppl |
T |
C |
16: 4,905,508 (GRCm39) |
N1596D |
probably benign |
Het |
Psmb6 |
T |
A |
11: 70,417,412 (GRCm39) |
S114R |
possibly damaging |
Het |
Pum1 |
C |
A |
4: 130,457,854 (GRCm39) |
Q289K |
probably damaging |
Het |
Shkbp1 |
T |
C |
7: 27,054,676 (GRCm39) |
I75V |
probably benign |
Het |
Slc24a3 |
T |
A |
2: 145,444,478 (GRCm39) |
I284N |
probably benign |
Het |
Slc44a3 |
C |
T |
3: 121,320,842 (GRCm39) |
G53D |
probably damaging |
Het |
Slc9a4 |
A |
C |
1: 40,668,565 (GRCm39) |
D736A |
probably benign |
Het |
Stra6 |
A |
G |
9: 58,059,854 (GRCm39) |
D605G |
probably benign |
Het |
Tas2r126 |
T |
A |
6: 42,411,684 (GRCm39) |
H72Q |
probably benign |
Het |
Tbrg1 |
C |
T |
9: 37,564,408 (GRCm39) |
R166Q |
probably benign |
Het |
Thumpd1 |
C |
T |
7: 119,319,925 (GRCm39) |
G14R |
probably benign |
Het |
Ticrr |
C |
T |
7: 79,344,209 (GRCm39) |
T1358I |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,184,340 (GRCm39) |
N518K |
probably benign |
Het |
Trpm4 |
C |
A |
7: 44,964,497 (GRCm39) |
W533C |
probably damaging |
Het |
Tsen54 |
T |
C |
11: 115,712,538 (GRCm39) |
Y119H |
possibly damaging |
Het |
Tulp3 |
G |
A |
6: 128,304,597 (GRCm39) |
T219M |
probably damaging |
Het |
Usp19 |
T |
C |
9: 108,376,160 (GRCm39) |
L1000S |
possibly damaging |
Het |
Vps16 |
A |
T |
2: 130,279,616 (GRCm39) |
Y43F |
probably benign |
Het |
Vsig1 |
T |
A |
X: 139,838,429 (GRCm39) |
V283E |
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 |
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 |
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 |
|
|
Posted On |
2013-10-07 |