Incidental Mutation 'R1417:Atp6v1b1'
| ID |
159851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp6v1b1
|
| Ensembl Gene |
ENSMUSG00000006269 |
| Gene Name |
ATPase, H+ transporting, lysosomal V1 subunit B1 |
| Synonyms |
lysosomal 56/58kDa, D630030L16Rik, Vpp-3, Vpp3, D630039P21Rik, Atp6b1 |
| MMRRC Submission |
039473-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1417 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83719999-83735837 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83730862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 196
(S196P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006431]
[ENSMUST00000205763]
[ENSMUST00000206911]
|
| AlphaFold |
Q91YH6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006431
AA Change: S187P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269
AA Change: S187P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_ab_N
|
44 |
110 |
1.9e-14 |
PFAM |
|
Pfam:ATP-synt_ab
|
167 |
393 |
9.4e-68 |
PFAM |
|
Pfam:ATP-synt_ab_C
|
410 |
508 |
6.9e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205763
AA Change: S196P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206052
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206652
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206911
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation show impaired urinary acidification with a more severe metabolic acidosis and inappropriately alkaline urine after oral acid challenge. However, contrary to expectation, neither hearing nor inner ear morphology areimpaired. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
A |
G |
16: 29,117,053 (GRCm39) |
V565A |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ces1a |
C |
T |
8: 93,749,044 (GRCm39) |
D456N |
probably benign |
Het |
| Clu |
T |
A |
14: 66,212,420 (GRCm39) |
Y124* |
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,458,162 (GRCm39) |
E658G |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,846,573 (GRCm39) |
E2913G |
probably damaging |
Het |
| Edc4 |
G |
A |
8: 106,614,487 (GRCm39) |
|
probably null |
Het |
| Enox1 |
C |
T |
14: 77,723,445 (GRCm39) |
|
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,053,312 (GRCm39) |
V122A |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,311,652 (GRCm39) |
S453G |
possibly damaging |
Het |
| Gm12185 |
A |
C |
11: 48,798,669 (GRCm39) |
V608G |
probably damaging |
Het |
| Hbq1a |
A |
G |
11: 32,250,722 (GRCm39) |
D135G |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,244,947 (GRCm39) |
T891A |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,413,993 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Ipo8 |
C |
T |
6: 148,719,550 (GRCm39) |
D132N |
probably benign |
Het |
| Klhl11 |
T |
C |
11: 100,363,115 (GRCm39) |
E147G |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,764,311 (GRCm39) |
V41D |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,894,653 (GRCm39) |
I2306V |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,636,425 (GRCm39) |
V1514A |
probably benign |
Het |
| Lrrtm2 |
A |
T |
18: 35,347,011 (GRCm39) |
I97N |
probably damaging |
Het |
| Mtmr3 |
C |
A |
11: 4,437,923 (GRCm39) |
V844L |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,197,011 (GRCm39) |
E1832G |
probably damaging |
Het |
| Or4n5 |
T |
A |
14: 50,133,020 (GRCm39) |
R80* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,180 (GRCm39) |
T47A |
probably benign |
Het |
| Pfkp |
T |
C |
13: 6,655,755 (GRCm39) |
K293E |
probably benign |
Het |
| Phlpp2 |
G |
T |
8: 110,667,313 (GRCm39) |
E1281* |
probably null |
Het |
| Prss23 |
T |
A |
7: 89,159,392 (GRCm39) |
T226S |
probably damaging |
Het |
| Slc8a1 |
T |
G |
17: 81,715,709 (GRCm39) |
M775L |
probably damaging |
Het |
| Stx12 |
A |
G |
4: 132,587,853 (GRCm39) |
|
probably null |
Het |
| Syt11 |
A |
T |
3: 88,669,289 (GRCm39) |
I201N |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,783,327 (GRCm39) |
N543S |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,037,812 (GRCm39) |
N764S |
probably benign |
Het |
| Xylb |
A |
G |
9: 119,193,606 (GRCm39) |
D100G |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,500,284 (GRCm39) |
|
probably null |
Het |
| Zkscan16 |
T |
C |
4: 58,952,377 (GRCm39) |
V225A |
probably benign |
Het |
|
| Other mutations in Atp6v1b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01560:Atp6v1b1
|
APN |
6 |
83,726,897 (GRCm39) |
splice site |
probably benign |
|
|
IGL02005:Atp6v1b1
|
APN |
6 |
83,730,896 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02085:Atp6v1b1
|
APN |
6 |
83,730,897 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02100:Atp6v1b1
|
APN |
6 |
83,735,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02267:Atp6v1b1
|
APN |
6 |
83,733,891 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02507:Atp6v1b1
|
APN |
6 |
83,733,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02563:Atp6v1b1
|
APN |
6 |
83,732,433 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03144:Atp6v1b1
|
APN |
6 |
83,735,333 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0391:Atp6v1b1
|
UTSW |
6 |
83,733,903 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0420:Atp6v1b1
|
UTSW |
6 |
83,729,826 (GRCm39) |
unclassified |
probably benign |
|
|
R0458:Atp6v1b1
|
UTSW |
6 |
83,729,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0561:Atp6v1b1
|
UTSW |
6 |
83,730,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0947:Atp6v1b1
|
UTSW |
6 |
83,730,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1241:Atp6v1b1
|
UTSW |
6 |
83,733,526 (GRCm39) |
unclassified |
probably benign |
|
|
R1447:Atp6v1b1
|
UTSW |
6 |
83,734,924 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1710:Atp6v1b1
|
UTSW |
6 |
83,735,372 (GRCm39) |
missense |
probably benign |
|
|
R1722:Atp6v1b1
|
UTSW |
6 |
83,720,074 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1862:Atp6v1b1
|
UTSW |
6 |
83,726,834 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2086:Atp6v1b1
|
UTSW |
6 |
83,734,834 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3433:Atp6v1b1
|
UTSW |
6 |
83,720,074 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4193:Atp6v1b1
|
UTSW |
6 |
83,720,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4606:Atp6v1b1
|
UTSW |
6 |
83,729,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5901:Atp6v1b1
|
UTSW |
6 |
83,735,339 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6156:Atp6v1b1
|
UTSW |
6 |
83,735,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Atp6v1b1
|
UTSW |
6 |
83,729,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6717:Atp6v1b1
|
UTSW |
6 |
83,730,632 (GRCm39) |
splice site |
probably null |
|
|
R6727:Atp6v1b1
|
UTSW |
6 |
83,728,857 (GRCm39) |
unclassified |
probably benign |
|
|
R6952:Atp6v1b1
|
UTSW |
6 |
83,731,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Atp6v1b1
|
UTSW |
6 |
83,729,440 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7852:Atp6v1b1
|
UTSW |
6 |
83,729,452 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8421:Atp6v1b1
|
UTSW |
6 |
83,730,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8840:Atp6v1b1
|
UTSW |
6 |
83,733,845 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACACAGAGCACAGTTCCATTG -3'
(R):5'- AGTGTCTGTTATGCAGCCCTGACC -3'
Sequencing Primer
(F):5'- CCATTGTTACAGAAGCTGCTG -3'
(R):5'- CAGCCCTGACCTTGAGTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation