Incidental Mutation 'IGL01120:Atp6v1c2'
| ID |
52473 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp6v1c2
|
| Ensembl Gene |
ENSMUSG00000020566 |
| Gene Name |
ATPase, H+ transporting, lysosomal V1 subunit C2 |
| Synonyms |
1110038G14Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.303)
|
| Stock # |
IGL01120
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
17334722-17375700 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17358294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 88
(E88K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020884]
[ENSMUST00000095820]
[ENSMUST00000127185]
[ENSMUST00000140751]
[ENSMUST00000143131]
[ENSMUST00000153090]
[ENSMUST00000156727]
[ENSMUST00000222103]
[ENSMUST00000221129]
|
| AlphaFold |
Q99L60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020884
AA Change: E88K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566
AA Change: E88K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
427 |
3.9e-156 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095820
AA Change: E88K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093500
Gene: ENSMUSG00000020566
AA Change: E88K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
417 |
3.4e-165 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127185
|
| SMART Domains |
Protein: ENSMUSP00000118635
Gene: ENSMUSG00000020566
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
1 |
63 |
1.1e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140751
AA Change: E88K
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123415
Gene: ENSMUSG00000020566
AA Change: E88K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
133 |
4.1e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143131
|
| SMART Domains |
Protein: ENSMUSP00000117993
Gene: ENSMUSG00000020566
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
70 |
5.8e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153090
AA Change: E88K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119686
Gene: ENSMUSG00000020566
AA Change: E88K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
134 |
3e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156727
AA Change: E18K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117139
Gene: ENSMUSG00000020566
AA Change: E18K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
1 |
347 |
2.5e-135 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222103
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221129
AA Change: E88K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd11 |
T |
A |
5: 135,040,329 (GRCm39) |
|
probably null |
Het |
| Armcx5 |
T |
C |
X: 134,647,112 (GRCm39) |
I396T |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,372,422 (GRCm39) |
|
probably null |
Het |
| Caskin1 |
A |
G |
17: 24,724,343 (GRCm39) |
T1044A |
possibly damaging |
Het |
| Cyp3a59 |
T |
A |
5: 146,039,671 (GRCm39) |
S315T |
probably damaging |
Het |
| Dnaja1 |
T |
A |
4: 40,730,248 (GRCm39) |
I240N |
probably damaging |
Het |
| Dnttip2 |
C |
T |
3: 122,072,386 (GRCm39) |
|
probably benign |
Het |
| Elavl2 |
A |
T |
4: 91,152,309 (GRCm39) |
M136K |
probably damaging |
Het |
| Eml5 |
C |
T |
12: 98,810,278 (GRCm39) |
V893I |
probably benign |
Het |
| Fbxw4 |
G |
T |
19: 45,628,955 (GRCm39) |
A2E |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,108,475 (GRCm39) |
S168A |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,794,102 (GRCm39) |
T857I |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,208,495 (GRCm39) |
K797E |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,336,162 (GRCm39) |
F1569S |
probably benign |
Het |
| Kash5 |
G |
T |
7: 44,833,622 (GRCm39) |
S560Y |
probably damaging |
Het |
| Lrrc45 |
T |
C |
11: 120,610,836 (GRCm39) |
V524A |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,798,104 (GRCm39) |
L708P |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,606,146 (GRCm39) |
|
probably benign |
Het |
| Or10ab4 |
T |
G |
7: 107,654,774 (GRCm39) |
M195R |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,552 (GRCm39) |
V142A |
probably benign |
Het |
| Palm |
A |
G |
10: 79,652,621 (GRCm39) |
|
probably benign |
Het |
| Phf14 |
T |
C |
6: 11,962,739 (GRCm39) |
V462A |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,708 (GRCm39) |
|
probably null |
Het |
| Pkp3 |
T |
A |
7: 140,664,095 (GRCm39) |
L424* |
probably null |
Het |
| Prss29 |
A |
G |
17: 25,541,107 (GRCm39) |
K184E |
probably benign |
Het |
| Prss3b |
A |
T |
6: 41,008,607 (GRCm39) |
Y236N |
probably damaging |
Het |
| Ptcd1 |
C |
T |
5: 145,089,053 (GRCm39) |
|
probably benign |
Het |
| Pth1r |
T |
C |
9: 110,556,198 (GRCm39) |
H225R |
probably damaging |
Het |
| Rffl |
C |
T |
11: 82,696,848 (GRCm39) |
V332I |
probably damaging |
Het |
| Rsl1 |
T |
C |
13: 67,325,230 (GRCm39) |
|
probably benign |
Het |
| Scart2 |
T |
C |
7: 139,876,472 (GRCm39) |
L648P |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,357,316 (GRCm39) |
K986R |
probably benign |
Het |
| Slc22a15 |
A |
G |
3: 101,804,482 (GRCm39) |
L181P |
probably damaging |
Het |
| Slc34a1 |
T |
A |
13: 55,556,884 (GRCm39) |
L241H |
probably damaging |
Het |
| Slc4a4 |
C |
A |
5: 89,280,238 (GRCm39) |
H354Q |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,178,596 (GRCm39) |
E1131G |
probably damaging |
Het |
| Ssc4d |
C |
A |
5: 135,996,817 (GRCm39) |
D95Y |
probably damaging |
Het |
| Tcte1 |
A |
T |
17: 45,850,594 (GRCm39) |
D290V |
probably damaging |
Het |
| Thyn1 |
T |
A |
9: 26,915,070 (GRCm39) |
M74K |
probably benign |
Het |
| Tlr4 |
C |
T |
4: 66,758,662 (GRCm39) |
T485I |
probably benign |
Het |
| Trem1 |
A |
G |
17: 48,544,277 (GRCm39) |
T101A |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,202,141 (GRCm39) |
E387G |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,259 (GRCm39) |
T127S |
probably benign |
Het |
|
| Other mutations in Atp6v1c2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01520:Atp6v1c2
|
APN |
12 |
17,347,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02121:Atp6v1c2
|
APN |
12 |
17,341,441 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02990:Atp6v1c2
|
APN |
12 |
17,344,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03243:Atp6v1c2
|
APN |
12 |
17,339,122 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0077:Atp6v1c2
|
UTSW |
12 |
17,371,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Atp6v1c2
|
UTSW |
12 |
17,344,676 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0239:Atp6v1c2
|
UTSW |
12 |
17,344,676 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0358:Atp6v1c2
|
UTSW |
12 |
17,334,961 (GRCm39) |
splice site |
probably benign |
|
|
R0373:Atp6v1c2
|
UTSW |
12 |
17,338,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0536:Atp6v1c2
|
UTSW |
12 |
17,357,509 (GRCm39) |
splice site |
probably null |
|
|
R1164:Atp6v1c2
|
UTSW |
12 |
17,358,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1400:Atp6v1c2
|
UTSW |
12 |
17,339,131 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2133:Atp6v1c2
|
UTSW |
12 |
17,371,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4695:Atp6v1c2
|
UTSW |
12 |
17,351,208 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4825:Atp6v1c2
|
UTSW |
12 |
17,339,061 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5215:Atp6v1c2
|
UTSW |
12 |
17,341,659 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6034:Atp6v1c2
|
UTSW |
12 |
17,357,501 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6034:Atp6v1c2
|
UTSW |
12 |
17,357,501 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6196:Atp6v1c2
|
UTSW |
12 |
17,351,187 (GRCm39) |
nonsense |
probably null |
|
|
R7059:Atp6v1c2
|
UTSW |
12 |
17,339,005 (GRCm39) |
nonsense |
probably null |
|
|
R7505:Atp6v1c2
|
UTSW |
12 |
17,347,724 (GRCm39) |
splice site |
probably null |
|
|
R7559:Atp6v1c2
|
UTSW |
12 |
17,351,215 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7980:Atp6v1c2
|
UTSW |
12 |
17,371,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8290:Atp6v1c2
|
UTSW |
12 |
17,338,153 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8853:Atp6v1c2
|
UTSW |
12 |
17,351,148 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8990:Atp6v1c2
|
UTSW |
12 |
17,341,647 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation