Incidental Mutation 'R5762:Atp4a'
| ID |
446053 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R5762 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30411634-30424959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30418521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 603
(D603G)
|
| 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 damaging
Transcript: ENSMUST00000005692
AA Change: D603G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: D603G
| 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 damaging
Transcript: ENSMUST00000170371
AA Change: D603G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: D603G
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,044,445 (GRCm39) |
D148E |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,531,665 (GRCm39) |
I4631V |
probably damaging |
Het |
| Adamts16 |
A |
T |
13: 70,886,617 (GRCm39) |
W1058R |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,741,586 (GRCm39) |
I163V |
probably null |
Het |
| Ano1 |
T |
A |
7: 144,201,774 (GRCm39) |
Y338F |
probably damaging |
Het |
| Bmp2k |
GGCCCGC |
GGC |
5: 97,235,050 (GRCm39) |
|
probably null |
Het |
| Brinp2 |
T |
C |
1: 158,074,156 (GRCm39) |
D655G |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,321 (GRCm39) |
S299P |
probably benign |
Het |
| Calhm1 |
T |
A |
19: 47,132,058 (GRCm39) |
|
probably null |
Het |
| Ccdc187 |
G |
A |
2: 26,166,104 (GRCm39) |
P775L |
possibly damaging |
Het |
| Cd27 |
A |
G |
6: 125,213,561 (GRCm39) |
F48S |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,844,947 (GRCm39) |
Y41H |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 9,748,394 (GRCm39) |
S701P |
possibly damaging |
Het |
| Ctbp2 |
G |
T |
7: 132,597,088 (GRCm39) |
A665D |
probably damaging |
Het |
| Ctsd |
C |
A |
7: 141,937,266 (GRCm39) |
G81C |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dpysl4 |
C |
T |
7: 138,671,853 (GRCm39) |
A67V |
probably benign |
Het |
| Dst |
C |
T |
1: 34,218,438 (GRCm39) |
T1626I |
probably damaging |
Het |
| Etfdh |
A |
C |
3: 79,523,261 (GRCm39) |
D217E |
probably null |
Het |
| Far1 |
T |
A |
7: 113,167,396 (GRCm39) |
Y494N |
probably damaging |
Het |
| Fndc1 |
G |
A |
17: 7,990,366 (GRCm39) |
T1110M |
unknown |
Het |
| Frmd4a |
G |
T |
2: 4,488,876 (GRCm39) |
D78Y |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,808,260 (GRCm39) |
M1526I |
probably benign |
Het |
| Ggn |
C |
T |
7: 28,871,777 (GRCm39) |
P399S |
probably damaging |
Het |
| H2ac6 |
C |
T |
13: 23,867,888 (GRCm39) |
G5S |
probably damaging |
Het |
| Hap1 |
A |
G |
11: 100,246,600 (GRCm39) |
W102R |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,846,938 (GRCm39) |
S3629R |
possibly damaging |
Het |
| Hyal4 |
A |
C |
6: 24,765,861 (GRCm39) |
Y405S |
possibly damaging |
Het |
| Ifi204 |
G |
A |
1: 173,580,325 (GRCm39) |
T395I |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,326,005 (GRCm39) |
E1147G |
probably damaging |
Het |
| Inpp5a |
T |
A |
7: 139,118,097 (GRCm39) |
I225N |
possibly damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,972,518 (GRCm39) |
K455R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,515,455 (GRCm39) |
D2796G |
probably benign |
Het |
| Ngp |
A |
T |
9: 110,251,401 (GRCm39) |
D143V |
probably benign |
Het |
| Nlrp5 |
T |
C |
7: 23,118,264 (GRCm39) |
C663R |
possibly damaging |
Het |
| Nup205 |
G |
T |
6: 35,204,615 (GRCm39) |
R1469L |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,207,483 (GRCm39) |
F1512I |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,397,542 (GRCm39) |
S594P |
probably damaging |
Het |
| Nxpe2 |
A |
C |
9: 48,230,875 (GRCm39) |
V498G |
probably benign |
Het |
| P3h4 |
G |
A |
11: 100,302,677 (GRCm39) |
R320C |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,063,455 (GRCm39) |
L2273P |
probably damaging |
Het |
| Ppp1r14b |
C |
T |
19: 6,953,951 (GRCm39) |
L100F |
probably damaging |
Het |
| Prlhr |
C |
T |
19: 60,455,506 (GRCm39) |
W353* |
probably null |
Het |
| Ralgps2 |
C |
T |
1: 156,660,234 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
C |
T |
19: 41,868,591 (GRCm39) |
G584D |
possibly damaging |
Het |
| Scamp3 |
T |
C |
3: 89,088,504 (GRCm39) |
F237L |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,464,507 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Shroom1 |
A |
T |
11: 53,354,818 (GRCm39) |
D246V |
probably benign |
Het |
| Snapc4 |
T |
A |
2: 26,268,618 (GRCm39) |
E14D |
probably damaging |
Het |
| Spag5 |
A |
T |
11: 78,194,972 (GRCm39) |
Q93L |
probably benign |
Het |
| Tcstv5 |
T |
A |
13: 120,411,501 (GRCm39) |
Q35L |
probably benign |
Het |
| Tle1 |
C |
T |
4: 72,038,372 (GRCm39) |
|
probably null |
Het |
| Ttll10 |
G |
A |
4: 156,119,438 (GRCm39) |
P683S |
possibly damaging |
Het |
| Unc13c |
A |
C |
9: 73,719,649 (GRCm39) |
D1006E |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,732,955 (GRCm39) |
K3101N |
possibly damaging |
Het |
| Vdac1 |
A |
G |
11: 52,278,280 (GRCm39) |
Y247C |
possibly damaging |
Het |
| Vmn2r1 |
G |
A |
3: 63,997,474 (GRCm39) |
V377I |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,352 (GRCm39) |
T552A |
probably damaging |
Het |
| Xrcc3 |
C |
T |
12: 111,771,044 (GRCm39) |
R295Q |
probably damaging |
Het |
| Zfp780b |
T |
C |
7: 27,664,243 (GRCm39) |
N104S |
probably benign |
Het |
| Zkscan17 |
A |
G |
11: 59,378,397 (GRCm39) |
V262A |
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 |
|
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'- ATGGATTCAAGATCTGGCATCC -3'
(R):5'- CAAACAGCTTAGCCGGGAAG -3'
Sequencing Primer
(F):5'- GGCATCCAGGGACCTGATTATTTC -3'
(R):5'- TTAGCCGGGAAGCATCCTTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation