Incidental Mutation 'IGL03376:Atp6v1b2'
| ID |
420501 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp6v1b2
|
| Ensembl Gene |
ENSMUSG00000006273 |
| Gene Name |
ATPase, H+ transporting, lysosomal V1 subunit B2 |
| Synonyms |
HO57, Atp6b2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03376
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
69541388-69566370 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 69554811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006435]
|
| AlphaFold |
P62814 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006435
|
| SMART Domains |
Protein: ENSMUSP00000006435
Gene: ENSMUSG00000006273
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_ab_N
|
50 |
116 |
3.2e-14 |
PFAM |
|
Pfam:ATP-synt_ab
|
173 |
399 |
1.9e-69 |
PFAM |
|
Pfam:ATP-synt_ab_C
|
416 |
510 |
5.1e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153680
|
| Coding Region Coverage |
|
| 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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc122 |
A |
G |
14: 77,306,352 (GRCm39) |
E41G |
probably damaging |
Het |
| Cdh3 |
C |
T |
8: 107,268,036 (GRCm39) |
T357I |
probably benign |
Het |
| Cfap57 |
T |
A |
4: 118,441,917 (GRCm39) |
Q717L |
probably damaging |
Het |
| Cfap58 |
A |
T |
19: 48,023,164 (GRCm39) |
T859S |
possibly damaging |
Het |
| Cmtr1 |
C |
T |
17: 29,910,385 (GRCm39) |
R497C |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,411,464 (GRCm39) |
I2494T |
probably benign |
Het |
| Dmkn |
C |
T |
7: 30,470,667 (GRCm39) |
T385I |
possibly damaging |
Het |
| Eml3 |
A |
G |
19: 8,911,154 (GRCm39) |
D260G |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,250,960 (GRCm39) |
F493L |
possibly damaging |
Het |
| Gjb5 |
C |
T |
4: 127,250,048 (GRCm39) |
R32H |
probably damaging |
Het |
| Hpx |
C |
T |
7: 105,241,458 (GRCm39) |
|
probably benign |
Het |
| Ikzf3 |
T |
A |
11: 98,379,779 (GRCm39) |
H163L |
probably damaging |
Het |
| Irak3 |
G |
A |
10: 119,982,541 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,211,584 (GRCm39) |
V275I |
probably benign |
Het |
| Klc1 |
G |
T |
12: 111,742,387 (GRCm39) |
E174D |
probably damaging |
Het |
| Ly6g6e |
A |
G |
17: 35,297,208 (GRCm39) |
*108W |
probably null |
Het |
| Mcph1 |
T |
C |
8: 18,646,989 (GRCm39) |
S31P |
probably damaging |
Het |
| Mettl4 |
A |
T |
17: 95,042,799 (GRCm39) |
S346T |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,490,086 (GRCm39) |
|
probably benign |
Het |
| Or2ag19 |
T |
A |
7: 106,444,677 (GRCm39) |
N286K |
probably damaging |
Het |
| Otol1 |
A |
G |
3: 69,934,845 (GRCm39) |
E279G |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,115,071 (GRCm39) |
N722K |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,319,947 (GRCm39) |
S449P |
probably damaging |
Het |
| Rassf9 |
A |
G |
10: 102,381,059 (GRCm39) |
N145S |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,753,380 (GRCm39) |
I158M |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,173,219 (GRCm39) |
|
probably benign |
Het |
| Slc30a8 |
C |
T |
15: 52,169,853 (GRCm39) |
R27* |
probably null |
Het |
| Tmco2 |
T |
A |
4: 120,966,249 (GRCm39) |
T36S |
probably benign |
Het |
| Tns4 |
T |
C |
11: 98,969,382 (GRCm39) |
S360G |
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,420,574 (GRCm39) |
|
probably null |
Het |
| Wwc1 |
C |
T |
11: 35,743,121 (GRCm39) |
R900Q |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,767,377 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Atp6v1b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Atp6v1b2
|
APN |
8 |
69,541,586 (GRCm39) |
splice site |
probably null |
|
|
IGL00908:Atp6v1b2
|
APN |
8 |
69,548,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01914:Atp6v1b2
|
APN |
8 |
69,548,932 (GRCm39) |
splice site |
probably benign |
|
|
IGL03010:Atp6v1b2
|
APN |
8 |
69,558,534 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0127:Atp6v1b2
|
UTSW |
8 |
69,556,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Atp6v1b2
|
UTSW |
8 |
69,554,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Atp6v1b2
|
UTSW |
8 |
69,562,637 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1754:Atp6v1b2
|
UTSW |
8 |
69,554,613 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1932:Atp6v1b2
|
UTSW |
8 |
69,555,459 (GRCm39) |
nonsense |
probably null |
|
|
R1954:Atp6v1b2
|
UTSW |
8 |
69,558,555 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2228:Atp6v1b2
|
UTSW |
8 |
69,555,411 (GRCm39) |
splice site |
probably null |
|
|
R2229:Atp6v1b2
|
UTSW |
8 |
69,555,411 (GRCm39) |
splice site |
probably null |
|
|
R4448:Atp6v1b2
|
UTSW |
8 |
69,554,674 (GRCm39) |
missense |
probably benign |
|
|
R4738:Atp6v1b2
|
UTSW |
8 |
69,556,062 (GRCm39) |
missense |
probably benign |
|
|
R5243:Atp6v1b2
|
UTSW |
8 |
69,556,391 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5388:Atp6v1b2
|
UTSW |
8 |
69,554,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5664:Atp6v1b2
|
UTSW |
8 |
69,560,272 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5774:Atp6v1b2
|
UTSW |
8 |
69,554,613 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5894:Atp6v1b2
|
UTSW |
8 |
69,560,218 (GRCm39) |
splice site |
probably null |
|
|
R6015:Atp6v1b2
|
UTSW |
8 |
69,555,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6147:Atp6v1b2
|
UTSW |
8 |
69,555,134 (GRCm39) |
nonsense |
probably null |
|
|
R6217:Atp6v1b2
|
UTSW |
8 |
69,562,530 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6636:Atp6v1b2
|
UTSW |
8 |
69,554,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6637:Atp6v1b2
|
UTSW |
8 |
69,554,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7032:Atp6v1b2
|
UTSW |
8 |
69,541,548 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7108:Atp6v1b2
|
UTSW |
8 |
69,555,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7184:Atp6v1b2
|
UTSW |
8 |
69,555,219 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7578:Atp6v1b2
|
UTSW |
8 |
69,556,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8168:Atp6v1b2
|
UTSW |
8 |
69,560,983 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8342:Atp6v1b2
|
UTSW |
8 |
69,554,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8380:Atp6v1b2
|
UTSW |
8 |
69,556,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8961:Atp6v1b2
|
UTSW |
8 |
69,555,414 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9100:Atp6v1b2
|
UTSW |
8 |
69,541,476 (GRCm39) |
missense |
|
|
|
| Posted On |
2016-08-02 |
Incidental Mutation