Incidental Mutation 'IGL00331:Atp6v1b2'
| ID |
5031 |
| 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 # |
IGL00331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
69541388-69566370 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 69541586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006435]
[ENSMUST00000006435]
[ENSMUST00000037478]
[ENSMUST00000148856]
|
| AlphaFold |
P62814 |
| Predicted Effect |
probably null
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 |
probably null
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 |
probably benign
Transcript: ENSMUST00000037478
|
| SMART Domains |
Protein: ENSMUSP00000046924
Gene: ENSMUSG00000036330
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
24 |
430 |
3.7e-34 |
PFAM |
|
Pfam:MFS_1
|
302 |
508 |
9e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142710
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148856
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
C |
A |
1: 74,320,595 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
T |
A |
18: 59,140,397 (GRCm39) |
|
probably benign |
Het |
| Afg3l1 |
T |
A |
8: 124,214,128 (GRCm39) |
F190I |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,618,353 (GRCm39) |
S2800T |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,392,478 (GRCm39) |
W348R |
probably damaging |
Het |
| Atp13a5 |
G |
A |
16: 29,085,766 (GRCm39) |
Q823* |
probably null |
Het |
| Chuk |
T |
C |
19: 44,076,462 (GRCm39) |
I416M |
possibly damaging |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,701,020 (GRCm39) |
Q1066L |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,421,766 (GRCm39) |
T3873A |
probably damaging |
Het |
| Endog |
C |
T |
2: 30,062,912 (GRCm39) |
T184M |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,800,966 (GRCm39) |
|
probably benign |
Het |
| Flii |
A |
G |
11: 60,606,659 (GRCm39) |
I1061T |
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,873,067 (GRCm39) |
N308K |
probably damaging |
Het |
| Hoxa2 |
T |
G |
6: 52,140,497 (GRCm39) |
Y163S |
probably damaging |
Het |
| Hsd3b7 |
T |
C |
7: 127,402,144 (GRCm39) |
L263P |
probably damaging |
Het |
| Klf17 |
T |
C |
4: 117,618,235 (GRCm39) |
T41A |
probably benign |
Het |
| Lrrfip1 |
T |
C |
1: 90,996,343 (GRCm39) |
M42T |
probably damaging |
Het |
| Mapk8ip1 |
C |
T |
2: 92,215,533 (GRCm39) |
V614I |
probably benign |
Het |
| Mocs1 |
T |
G |
17: 49,742,292 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
T |
C |
10: 24,158,453 (GRCm39) |
|
probably benign |
Het |
| Mterf1a |
T |
C |
5: 3,941,610 (GRCm39) |
E86G |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,574,613 (GRCm39) |
D1021G |
probably benign |
Het |
| Nomo1 |
T |
C |
7: 45,694,760 (GRCm39) |
S212P |
possibly damaging |
Het |
| Or5b116 |
A |
G |
19: 13,422,988 (GRCm39) |
D204G |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,534 (GRCm39) |
Y60N |
probably damaging |
Het |
| Phf21a |
A |
C |
2: 92,178,374 (GRCm39) |
T385P |
probably damaging |
Het |
| Piwil4 |
A |
T |
9: 14,626,327 (GRCm39) |
|
probably benign |
Het |
| Pknox1 |
T |
C |
17: 31,818,619 (GRCm39) |
|
probably null |
Het |
| Prr14l |
T |
C |
5: 32,988,410 (GRCm39) |
I362V |
probably benign |
Het |
| Sergef |
C |
T |
7: 46,284,844 (GRCm39) |
|
probably null |
Het |
| Sez6l |
T |
C |
5: 112,572,511 (GRCm39) |
D948G |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,053,723 (GRCm39) |
L54Q |
probably damaging |
Het |
| Sntn |
C |
T |
14: 13,679,086 (GRCm38) |
Q87* |
probably null |
Het |
| Syde2 |
A |
G |
3: 145,720,096 (GRCm39) |
K772E |
possibly damaging |
Het |
| Taf2 |
T |
A |
15: 54,934,845 (GRCm39) |
|
probably null |
Het |
| Tbc1d13 |
T |
A |
2: 30,030,523 (GRCm39) |
Y113N |
probably damaging |
Het |
| Tmem154 |
T |
C |
3: 84,591,722 (GRCm39) |
F91L |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,794,062 (GRCm39) |
D533G |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,782,882 (GRCm39) |
N712K |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,708,262 (GRCm39) |
D603E |
probably damaging |
Het |
| Trmt11 |
T |
C |
10: 30,442,445 (GRCm39) |
D246G |
probably damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,958 (GRCm39) |
M208K |
possibly damaging |
Het |
| Wdr54 |
T |
C |
6: 83,132,755 (GRCm39) |
H33R |
probably benign |
Het |
| Zfp207 |
A |
G |
11: 80,279,828 (GRCm39) |
D111G |
probably benign |
Het |
|
| Other mutations in Atp6v1b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03376:Atp6v1b2
|
APN |
8 |
69,554,811 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation