Incidental Mutation 'R5636:Atp6v0b'
| ID |
440362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp6v0b
|
| Ensembl Gene |
ENSMUSG00000033379 |
| Gene Name |
ATPase, H+ transporting, lysosomal V0 subunit B |
| Synonyms |
VMA16, 2310024H13Rik, Atp6f |
| MMRRC Submission |
043287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R5636 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
117741523-117744530 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 117743582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030265]
[ENSMUST00000030266]
[ENSMUST00000036380]
[ENSMUST00000084325]
[ENSMUST00000106421]
[ENSMUST00000149868]
[ENSMUST00000132073]
[ENSMUST00000183773]
[ENSMUST00000147845]
[ENSMUST00000171548]
[ENSMUST00000136596]
[ENSMUST00000150204]
[ENSMUST00000153358]
[ENSMUST00000167443]
|
| AlphaFold |
Q91V37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030265
|
| SMART Domains |
Protein: ENSMUSP00000030265
Gene: ENSMUSG00000028540
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Diphthamide_syn
|
54 |
375 |
2.8e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030266
|
| SMART Domains |
Protein: ENSMUSP00000030266
Gene: ENSMUSG00000028541
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
94 |
228 |
4.2e-59 |
PFAM |
|
Pfam:Glyco_transf_7C
|
232 |
310 |
2.1e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036380
|
| SMART Domains |
Protein: ENSMUSP00000047682
Gene: ENSMUSG00000033379
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:ATP-synt_C
|
50 |
112 |
1.2e-15 |
PFAM |
|
Pfam:ATP-synt_C
|
136 |
198 |
1.8e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084325
|
| SMART Domains |
Protein: ENSMUSP00000081352
Gene: ENSMUSG00000028541
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
94 |
230 |
1.9e-47 |
PFAM |
|
Pfam:Glyco_transf_7C
|
232 |
310 |
2.6e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106421
|
| SMART Domains |
Protein: ENSMUSP00000102029
Gene: ENSMUSG00000028541
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
94 |
230 |
1.9e-47 |
PFAM |
|
Pfam:Glyco_transf_7C
|
232 |
310 |
2.6e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126554
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149868
|
| SMART Domains |
Protein: ENSMUSP00000137788
Gene: ENSMUSG00000033379
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_C
|
2 |
67 |
3.1e-19 |
PFAM |
|
transmembrane domain
|
84 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128263
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133530
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132073
|
| SMART Domains |
Protein: ENSMUSP00000137654
Gene: ENSMUSG00000033379
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_C
|
2 |
67 |
1.4e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183773
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171548
|
| SMART Domains |
Protein: ENSMUSP00000126539
Gene: ENSMUSG00000028541
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136596
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150204
|
| SMART Domains |
Protein: ENSMUSP00000119988
Gene: ENSMUSG00000033379
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_C
|
2 |
67 |
8.2e-19 |
PFAM |
|
Pfam:ATP-synt_C
|
88 |
152 |
1.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153358
|
| SMART Domains |
Protein: ENSMUSP00000120571
Gene: ENSMUSG00000028541
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
94 |
197 |
9.5e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167443
|
| SMART Domains |
Protein: ENSMUSP00000128771
Gene: ENSMUSG00000028541
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
94 |
188 |
1.1e-24 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,922,382 (GRCm39) |
Q448* |
probably null |
Het |
| Abca5 |
A |
G |
11: 110,192,362 (GRCm39) |
Y717H |
probably benign |
Het |
| Abcg2 |
T |
A |
6: 58,649,041 (GRCm39) |
D295E |
probably damaging |
Het |
| Accsl |
C |
T |
2: 93,699,370 (GRCm39) |
E7K |
probably benign |
Het |
| Acvr2b |
A |
G |
9: 119,257,375 (GRCm39) |
Y152C |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,354,120 (GRCm39) |
E1747G |
probably damaging |
Het |
| Arpp19 |
C |
T |
9: 74,945,215 (GRCm39) |
|
probably benign |
Het |
| Atp10d |
A |
G |
5: 72,445,562 (GRCm39) |
Y74C |
probably damaging |
Het |
| Bms1 |
C |
A |
6: 118,365,786 (GRCm39) |
M1133I |
probably benign |
Het |
| Bysl |
A |
C |
17: 47,913,648 (GRCm39) |
D259E |
probably benign |
Het |
| Capn1 |
A |
T |
19: 6,064,472 (GRCm39) |
V9E |
probably benign |
Het |
| Cdkl2 |
T |
C |
5: 92,181,601 (GRCm39) |
I127V |
probably benign |
Het |
| Cyp2c38 |
G |
A |
19: 39,426,750 (GRCm39) |
Q184* |
probably null |
Het |
| Cypt12 |
C |
T |
3: 18,002,749 (GRCm39) |
R41C |
probably benign |
Het |
| Dnaaf11 |
A |
T |
15: 66,372,665 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,173,307 (GRCm39) |
I2469V |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,644,089 (GRCm39) |
V923A |
possibly damaging |
Het |
| Gm13889 |
A |
G |
2: 93,787,031 (GRCm39) |
C148R |
probably damaging |
Het |
| Gpd1 |
A |
T |
15: 99,619,939 (GRCm39) |
T223S |
probably benign |
Het |
| Hcrtr1 |
C |
A |
4: 130,024,738 (GRCm39) |
G383C |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,316,932 (GRCm39) |
P2047S |
possibly damaging |
Het |
| Islr2 |
T |
C |
9: 58,108,584 (GRCm39) |
T35A |
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,914,816 (GRCm39) |
D644G |
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,695,480 (GRCm39) |
T1173I |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,778,439 (GRCm39) |
V221A |
probably damaging |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,218 (GRCm39) |
C237R |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,836,687 (GRCm39) |
M264T |
probably damaging |
Het |
| Naxd |
A |
G |
8: 11,552,676 (GRCm39) |
N32S |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,273,926 (GRCm39) |
L1010Q |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,885,637 (GRCm39) |
K755* |
probably null |
Het |
| Or2av9 |
T |
C |
11: 58,380,877 (GRCm39) |
K235E |
probably damaging |
Het |
| Or9i2 |
C |
T |
19: 13,815,701 (GRCm39) |
V279M |
possibly damaging |
Het |
| Pik3ca |
G |
A |
3: 32,515,709 (GRCm39) |
R794Q |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 51,193,649 (GRCm39) |
|
probably null |
Het |
| Ric3 |
G |
A |
7: 108,638,027 (GRCm39) |
T242I |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,327,731 (GRCm39) |
Q1906P |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,327,455 (GRCm39) |
R1814K |
probably benign |
Het |
| Rufy2 |
T |
A |
10: 62,833,733 (GRCm39) |
I265N |
probably damaging |
Het |
| Scap |
G |
T |
9: 110,209,662 (GRCm39) |
G744C |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,202,744 (GRCm39) |
Q88R |
possibly damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,036,352 (GRCm39) |
D907G |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc4a3 |
C |
T |
1: 75,530,860 (GRCm39) |
L749F |
possibly damaging |
Het |
| Smtn |
T |
G |
11: 3,467,829 (GRCm39) |
|
probably null |
Het |
| Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,887,885 (GRCm39) |
|
probably benign |
Het |
| Stam |
G |
T |
2: 14,122,238 (GRCm39) |
M112I |
probably damaging |
Het |
| Tex35 |
C |
T |
1: 156,927,794 (GRCm39) |
W125* |
probably null |
Het |
| Tmem215 |
A |
G |
4: 40,474,394 (GRCm39) |
E157G |
probably damaging |
Het |
| Traf6 |
G |
A |
2: 101,527,254 (GRCm39) |
V335M |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 37,984,240 (GRCm39) |
K2302N |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,603,637 (GRCm39) |
H605R |
probably damaging |
Het |
|
| Other mutations in Atp6v0b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01490:Atp6v0b
|
APN |
4 |
117,742,303 (GRCm39) |
nonsense |
probably null |
|
|
IGL01556:Atp6v0b
|
APN |
4 |
117,743,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01998:Atp6v0b
|
APN |
4 |
117,743,263 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02369:Atp6v0b
|
APN |
4 |
117,742,850 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02953:Atp6v0b
|
APN |
4 |
117,742,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Atp6v0b
|
UTSW |
4 |
117,742,453 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0244:Atp6v0b
|
UTSW |
4 |
117,741,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6974:Atp6v0b
|
UTSW |
4 |
117,742,864 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7581:Atp6v0b
|
UTSW |
4 |
117,742,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7851:Atp6v0b
|
UTSW |
4 |
117,743,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7866:Atp6v0b
|
UTSW |
4 |
117,742,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0057:Atp6v0b
|
UTSW |
4 |
117,743,820 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
|
| Posted On |
2016-11-08 |
Incidental Mutation