Incidental Mutation 'R0829:Atp4b'
| ID |
78427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp4b
|
| Ensembl Gene |
ENSMUSG00000031449 |
| Gene Name |
ATPase, H+/K+ exchanging, beta polypeptide |
| Synonyms |
H+/K+-ATPase beta, H,K-ATPase-Beta, H+,K+-ATPase |
| MMRRC Submission |
039009-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0829 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13436209-13446778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 13440098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 83
(T83P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033826]
|
| AlphaFold |
P50992 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033826
AA Change: T83P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033826
Gene: ENSMUSG00000031449
AA Change: T83P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_K-ATPase
|
7 |
288 |
5.7e-108 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211331
|
| Meta Mutation Damage Score |
0.4395 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.7%
|
| Validation Efficiency |
95% (37/39) |
| 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 the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are superficially normal but have hypertrophied stomach mucosa, neutral luminal pH in the stomach, and hypergastrinemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprh |
C |
A |
16: 38,266,150 (GRCm39) |
A331S |
probably benign |
Het |
| Ccdc177 |
T |
C |
12: 80,806,253 (GRCm39) |
E7G |
probably damaging |
Het |
| Cercam |
G |
T |
2: 29,761,079 (GRCm39) |
R126L |
probably damaging |
Het |
| Cpb1 |
C |
T |
3: 20,306,107 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,543,238 (GRCm39) |
M2311V |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,896,002 (GRCm39) |
V2458L |
probably benign |
Het |
| Dnajb6 |
T |
C |
5: 29,990,020 (GRCm39) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,202,301 (GRCm39) |
T210A |
probably damaging |
Het |
| Gfpt1 |
T |
C |
6: 87,030,847 (GRCm39) |
|
probably benign |
Het |
| Grin1 |
C |
T |
2: 25,188,460 (GRCm39) |
D429N |
probably benign |
Het |
| Iqck |
T |
C |
7: 118,499,111 (GRCm39) |
|
probably null |
Het |
| Itgb5 |
A |
G |
16: 33,764,571 (GRCm39) |
I359V |
probably benign |
Het |
| Lemd3 |
T |
C |
10: 120,814,988 (GRCm39) |
T82A |
probably benign |
Het |
| Lrrc74b |
A |
G |
16: 17,376,254 (GRCm39) |
|
probably benign |
Het |
| Mitf |
A |
T |
6: 97,980,869 (GRCm39) |
I246F |
possibly damaging |
Het |
| Msgn1 |
C |
T |
12: 11,258,525 (GRCm39) |
R142Q |
probably damaging |
Het |
| Myh8 |
C |
A |
11: 67,174,326 (GRCm39) |
|
probably benign |
Het |
| Nacad |
C |
A |
11: 6,551,158 (GRCm39) |
V678L |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,725,596 (GRCm39) |
|
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or1s2 |
T |
A |
19: 13,758,556 (GRCm39) |
D191E |
probably damaging |
Het |
| Or4c100 |
A |
T |
2: 88,356,572 (GRCm39) |
Y215F |
probably damaging |
Het |
| Or4l15 |
C |
A |
14: 50,198,503 (GRCm39) |
V9L |
probably benign |
Het |
| Or6d13 |
A |
G |
6: 116,518,226 (GRCm39) |
T271A |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,338,598 (GRCm39) |
V1068E |
probably damaging |
Het |
| Plat |
A |
G |
8: 23,262,273 (GRCm39) |
Y99C |
probably damaging |
Het |
| Potefam1 |
G |
A |
2: 111,028,450 (GRCm39) |
T42I |
possibly damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rbm25 |
T |
C |
12: 83,707,150 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,316,570 (GRCm39) |
D998G |
probably damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,119,684 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,687,899 (GRCm39) |
I507M |
probably benign |
Het |
| Srebf2 |
T |
A |
15: 82,061,790 (GRCm39) |
|
probably null |
Het |
| Stimate |
C |
T |
14: 30,584,842 (GRCm39) |
R56C |
probably damaging |
Het |
| Tert |
T |
C |
13: 73,792,504 (GRCm39) |
C924R |
probably damaging |
Het |
| Usp19 |
T |
C |
9: 108,371,000 (GRCm39) |
S221P |
probably benign |
Het |
| Xkr4 |
C |
T |
1: 3,741,469 (GRCm39) |
A35T |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
|
| Other mutations in Atp4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Atp4b
|
APN |
8 |
13,439,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02596:Atp4b
|
APN |
8 |
13,443,471 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0558:Atp4b
|
UTSW |
8 |
13,443,523 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0963:Atp4b
|
UTSW |
8 |
13,440,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1528:Atp4b
|
UTSW |
8 |
13,439,693 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1605:Atp4b
|
UTSW |
8 |
13,443,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Atp4b
|
UTSW |
8 |
13,437,477 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3824:Atp4b
|
UTSW |
8 |
13,443,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3825:Atp4b
|
UTSW |
8 |
13,443,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4108:Atp4b
|
UTSW |
8 |
13,446,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4400:Atp4b
|
UTSW |
8 |
13,438,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4606:Atp4b
|
UTSW |
8 |
13,439,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4681:Atp4b
|
UTSW |
8 |
13,439,700 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6056:Atp4b
|
UTSW |
8 |
13,438,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Atp4b
|
UTSW |
8 |
13,436,732 (GRCm39) |
missense |
probably benign |
|
|
R7888:Atp4b
|
UTSW |
8 |
13,439,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8743:Atp4b
|
UTSW |
8 |
13,443,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Atp4b
|
UTSW |
8 |
13,437,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9523:Atp4b
|
UTSW |
8 |
13,436,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9742:Atp4b
|
UTSW |
8 |
13,440,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Atp4b
|
UTSW |
8 |
13,446,684 (GRCm39) |
small deletion |
probably benign |
|
|
Z1177:Atp4b
|
UTSW |
8 |
13,439,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATTCTCGTAGGAAGCAGACAC -3'
(R):5'- GAGGTCAGCATCTACTGCACCAATC -3'
Sequencing Primer
(F):5'- GCAGACACGCTGCTACATTTG -3'
(R):5'- ACCAAGTGTCACTATTGCTGG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation