Incidental Mutation 'IGL03181:Atp4a'
ID |
412254 |
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 # |
IGL03181
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
30411634-30424959 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 30424129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 968
(C968G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005692]
[ENSMUST00000006478]
[ENSMUST00000170371]
[ENSMUST00000171014]
[ENSMUST00000207296]
[ENSMUST00000208169]
[ENSMUST00000207263]
[ENSMUST00000207779]
[ENSMUST00000209065]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005692
AA Change: C977G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000005692 Gene: ENSMUSG00000005553 AA Change: C977G
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: ENSMUST00000006478
|
SMART Domains |
Protein: ENSMUSP00000006478 Gene: ENSMUSG00000006315
Domain | Start | End | E-Value | Type |
Pfam:DUF2053
|
2 |
158 |
3.1e-69 |
PFAM |
transmembrane domain
|
168 |
190 |
N/A |
INTRINSIC |
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165410
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167761
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170371
AA Change: C968G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000131964 Gene: ENSMUSG00000005553 AA Change: C968G
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180820
|
SMART Domains |
Protein: ENSMUSP00000137757 Gene: ENSMUSG00000097320
Domain | Start | End | E-Value | Type |
SCOP:d1i7oa2
|
53 |
93 |
5e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207296
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208169
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207263
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207779
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209065
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207955
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,240,147 (GRCm39) |
V1319A |
possibly damaging |
Het |
Abcb11 |
T |
A |
2: 69,158,352 (GRCm39) |
|
probably benign |
Het |
Acss3 |
G |
T |
10: 106,889,249 (GRCm39) |
H190Q |
probably damaging |
Het |
Adra2b |
C |
T |
2: 127,205,903 (GRCm39) |
T140I |
probably benign |
Het |
Arl1 |
T |
A |
10: 88,578,921 (GRCm39) |
|
probably benign |
Het |
Clec4n |
T |
C |
6: 123,207,474 (GRCm39) |
C13R |
possibly damaging |
Het |
Cnot3 |
T |
C |
7: 3,656,247 (GRCm39) |
Y178H |
probably damaging |
Het |
Col18a1 |
G |
A |
10: 76,891,532 (GRCm39) |
R1560C |
probably damaging |
Het |
Cyp2c66 |
T |
C |
19: 39,130,483 (GRCm39) |
F106S |
probably benign |
Het |
Dcn |
A |
C |
10: 97,319,314 (GRCm39) |
E30D |
probably damaging |
Het |
Dennd5a |
A |
T |
7: 109,532,865 (GRCm39) |
F302I |
probably damaging |
Het |
Dip2b |
T |
C |
15: 100,113,088 (GRCm39) |
V1501A |
probably damaging |
Het |
Dnah10 |
C |
T |
5: 124,825,521 (GRCm39) |
P687S |
probably damaging |
Het |
Drc7 |
A |
G |
8: 95,794,755 (GRCm39) |
T387A |
probably benign |
Het |
Dusp7 |
T |
A |
9: 106,251,009 (GRCm39) |
M378K |
probably damaging |
Het |
Ftmt |
T |
C |
18: 52,464,953 (GRCm39) |
Y90H |
probably damaging |
Het |
Glb1l3 |
T |
C |
9: 26,739,659 (GRCm39) |
|
probably null |
Het |
Gpatch3 |
T |
C |
4: 133,305,433 (GRCm39) |
F223L |
probably damaging |
Het |
Gpr158 |
T |
A |
2: 21,787,972 (GRCm39) |
F538I |
probably benign |
Het |
Gucy2e |
A |
G |
11: 69,121,008 (GRCm39) |
|
probably benign |
Het |
Hadha |
A |
G |
5: 30,326,524 (GRCm39) |
V566A |
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,492,021 (GRCm39) |
S3787C |
possibly damaging |
Het |
Hnrnpk |
A |
T |
13: 58,542,130 (GRCm39) |
D265E |
possibly damaging |
Het |
Hspbp1 |
G |
A |
7: 4,687,363 (GRCm39) |
R83W |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,243,248 (GRCm39) |
L758Q |
probably damaging |
Het |
Ippk |
A |
G |
13: 49,595,463 (GRCm39) |
Y180C |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,330,242 (GRCm39) |
M1620K |
probably benign |
Het |
Klf7 |
T |
C |
1: 64,074,885 (GRCm39) |
K298R |
possibly damaging |
Het |
Ktn1 |
A |
T |
14: 47,970,741 (GRCm39) |
T1229S |
probably benign |
Het |
Lefty2 |
A |
G |
1: 180,725,115 (GRCm39) |
N282D |
probably damaging |
Het |
Lrrc37 |
A |
T |
11: 103,507,242 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
G |
A |
13: 55,394,858 (GRCm39) |
E820K |
probably damaging |
Het |
Obsl1 |
C |
A |
1: 75,469,228 (GRCm39) |
A1238S |
probably benign |
Het |
Odr4 |
G |
T |
1: 150,239,290 (GRCm39) |
P378T |
probably benign |
Het |
Pias2 |
T |
C |
18: 77,220,938 (GRCm39) |
I391T |
possibly damaging |
Het |
Ppp1r10 |
G |
T |
17: 36,241,516 (GRCm39) |
G764* |
probably null |
Het |
Ptpra |
T |
C |
2: 130,359,707 (GRCm39) |
F158L |
probably damaging |
Het |
Recql |
T |
C |
6: 142,323,918 (GRCm39) |
S59G |
probably benign |
Het |
Rrp1b |
A |
T |
17: 32,276,150 (GRCm39) |
I566F |
probably benign |
Het |
Sh3yl1 |
G |
A |
12: 30,991,979 (GRCm39) |
D145N |
possibly damaging |
Het |
Slc35f5 |
T |
A |
1: 125,512,922 (GRCm39) |
I52N |
probably damaging |
Het |
Slc51b |
A |
G |
9: 65,322,447 (GRCm39) |
|
probably null |
Het |
Smpd4 |
C |
T |
16: 17,443,671 (GRCm39) |
Q72* |
probably null |
Het |
Spata6 |
A |
G |
4: 111,679,963 (GRCm39) |
D391G |
probably benign |
Het |
Tnc |
T |
A |
4: 63,885,543 (GRCm39) |
D1853V |
possibly damaging |
Het |
Tnks1bp1 |
C |
T |
2: 84,893,058 (GRCm39) |
T333I |
probably benign |
Het |
Vmn2r100 |
T |
A |
17: 19,752,207 (GRCm39) |
I813N |
probably damaging |
Het |
Vwa8 |
T |
A |
14: 79,246,690 (GRCm39) |
H677Q |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,426,883 (GRCm39) |
Y1064H |
probably damaging |
Het |
Wdr82 |
T |
A |
9: 106,063,614 (GRCm39) |
I272K |
probably benign |
Het |
Zc3h12a |
T |
C |
4: 125,013,097 (GRCm39) |
Y589C |
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 |
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 |
2016-08-02 |