Incidental Mutation 'IGL00496:Atp6v1c1'
| ID |
5843 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp6v1c1
|
| Ensembl Gene |
ENSMUSG00000022295 |
| Gene Name |
ATPase, H+ transporting, lysosomal V1 subunit C1 |
| Synonyms |
1700025B18Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00496
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
38662177-38692690 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38687100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 232
(K232E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022904]
[ENSMUST00000226533]
|
| AlphaFold |
Q9Z1G3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022904
AA Change: K232E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022904
Gene: ENSMUSG00000022295
AA Change: K232E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
370 |
1.2e-168 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226533
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228475
|
| 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 intracellular compartments of eukaryotic cells. V-ATPase dependent 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 gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
G |
A |
3: 89,960,400 (GRCm39) |
V14M |
possibly damaging |
Het |
| Adgrg6 |
C |
A |
10: 14,326,322 (GRCm39) |
|
probably null |
Het |
| Ankmy1 |
A |
G |
1: 92,813,988 (GRCm39) |
L397P |
probably damaging |
Het |
| Cnfn |
G |
T |
7: 25,067,385 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,452,371 (GRCm39) |
T52A |
probably benign |
Het |
| Daw1 |
A |
C |
1: 83,174,957 (GRCm39) |
L152F |
probably damaging |
Het |
| Gpr87 |
A |
T |
3: 59,087,211 (GRCm39) |
I98K |
probably damaging |
Het |
| Il17a |
G |
A |
1: 20,802,507 (GRCm39) |
R72H |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,111,512 (GRCm39) |
Q744R |
probably benign |
Het |
| Micall1 |
G |
A |
15: 78,999,221 (GRCm39) |
|
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,702,083 (GRCm39) |
T387A |
probably benign |
Het |
| Nckap1 |
T |
A |
2: 80,336,546 (GRCm39) |
I1057F |
possibly damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,020,544 (GRCm39) |
D263G |
probably damaging |
Het |
| Nrip1 |
A |
T |
16: 76,090,591 (GRCm39) |
V322E |
possibly damaging |
Het |
| Pck1 |
T |
C |
2: 172,995,911 (GRCm39) |
|
probably null |
Het |
| Ppp3r2 |
A |
G |
4: 49,681,773 (GRCm39) |
I59T |
possibly damaging |
Het |
| Pradc1 |
A |
G |
6: 85,424,948 (GRCm39) |
|
probably null |
Het |
| Psmd14 |
A |
G |
2: 61,591,026 (GRCm39) |
Y32C |
probably damaging |
Het |
| Rrp12 |
A |
C |
19: 41,866,466 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
A |
T |
17: 3,221,409 (GRCm39) |
I299F |
unknown |
Het |
| Selenoo |
A |
G |
15: 88,979,875 (GRCm39) |
D341G |
probably damaging |
Het |
| Slc1a6 |
C |
A |
10: 78,629,142 (GRCm39) |
N186K |
probably damaging |
Het |
| Smarcc2 |
T |
A |
10: 128,298,924 (GRCm39) |
S102R |
probably damaging |
Het |
| Stambpl1 |
T |
A |
19: 34,217,430 (GRCm39) |
V423E |
probably damaging |
Het |
| Svep1 |
A |
C |
4: 58,069,001 (GRCm39) |
C2928W |
possibly damaging |
Het |
| Tmed9 |
T |
C |
13: 55,741,334 (GRCm39) |
Y43H |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,571,091 (GRCm39) |
T24855A |
possibly damaging |
Het |
| Usp7 |
A |
G |
16: 8,512,977 (GRCm39) |
V795A |
probably damaging |
Het |
| Wdr17 |
A |
C |
8: 55,112,614 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Atp6v1c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01371:Atp6v1c1
|
APN |
15 |
38,683,204 (GRCm39) |
missense |
probably benign |
|
|
IGL02987:Atp6v1c1
|
APN |
15 |
38,690,806 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
P0029:Atp6v1c1
|
UTSW |
15 |
38,687,146 (GRCm39) |
unclassified |
probably benign |
|
|
R0550:Atp6v1c1
|
UTSW |
15 |
38,683,173 (GRCm39) |
splice site |
probably benign |
|
|
R0669:Atp6v1c1
|
UTSW |
15 |
38,677,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2033:Atp6v1c1
|
UTSW |
15 |
38,674,210 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3021:Atp6v1c1
|
UTSW |
15 |
38,689,460 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4475:Atp6v1c1
|
UTSW |
15 |
38,677,817 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4612:Atp6v1c1
|
UTSW |
15 |
38,677,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Atp6v1c1
|
UTSW |
15 |
38,689,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Atp6v1c1
|
UTSW |
15 |
38,679,657 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5600:Atp6v1c1
|
UTSW |
15 |
38,687,107 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6177:Atp6v1c1
|
UTSW |
15 |
38,674,172 (GRCm39) |
nonsense |
probably null |
|
|
R6434:Atp6v1c1
|
UTSW |
15 |
38,677,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6916:Atp6v1c1
|
UTSW |
15 |
38,677,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6973:Atp6v1c1
|
UTSW |
15 |
38,690,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7395:Atp6v1c1
|
UTSW |
15 |
38,691,949 (GRCm39) |
makesense |
probably null |
|
|
R7607:Atp6v1c1
|
UTSW |
15 |
38,683,255 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7712:Atp6v1c1
|
UTSW |
15 |
38,687,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8830:Atp6v1c1
|
UTSW |
15 |
38,677,789 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9195:Atp6v1c1
|
UTSW |
15 |
38,674,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9640:Atp6v1c1
|
UTSW |
15 |
38,689,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation