Incidental Mutation 'IGL01520:Atp6v1c2'
| ID |
90458 |
| 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 # |
IGL01520
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
17334722-17375700 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 17347754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 149
(L149Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020884]
[ENSMUST00000095820]
[ENSMUST00000140751]
[ENSMUST00000153090]
[ENSMUST00000156727]
[ENSMUST00000221129]
[ENSMUST00000222103]
|
| AlphaFold |
Q99L60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020884
AA Change: L159Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566
AA Change: L159Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
427 |
3.9e-156 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095820
AA Change: L149Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093500
Gene: ENSMUSG00000020566
AA Change: L149Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
417 |
3.4e-165 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000140751
|
| SMART Domains |
Protein: ENSMUSP00000123415
Gene: ENSMUSG00000020566
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
133 |
4.1e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153090
|
| SMART Domains |
Protein: ENSMUSP00000119686
Gene: ENSMUSG00000020566
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
134 |
3e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156727
AA Change: L79Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117139
Gene: ENSMUSG00000020566
AA Change: L79Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
1 |
347 |
2.5e-135 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221129
AA Change: L149Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222103
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 78,734,318 (GRCm39) |
H58Q |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,027,409 (GRCm39) |
Y2265* |
probably null |
Het |
| Cd40lg |
A |
G |
X: 56,265,148 (GRCm39) |
N132D |
probably benign |
Het |
| Cemip |
G |
T |
7: 83,597,830 (GRCm39) |
T1060K |
probably benign |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,246,206 (GRCm39) |
S328T |
probably benign |
Het |
| Cfap70 |
A |
G |
14: 20,470,755 (GRCm39) |
C497R |
probably benign |
Het |
| Cndp2 |
T |
C |
18: 84,686,732 (GRCm39) |
K430R |
probably benign |
Het |
| Cplane1 |
C |
A |
15: 8,251,395 (GRCm39) |
T1889K |
probably damaging |
Het |
| Crlf3 |
T |
C |
11: 79,950,972 (GRCm39) |
D126G |
probably benign |
Het |
| Cxcr1 |
A |
T |
1: 74,231,434 (GRCm39) |
L196Q |
probably damaging |
Het |
| E330013P04Rik |
A |
G |
19: 60,150,329 (GRCm39) |
|
noncoding transcript |
Het |
| Erbb2 |
C |
T |
11: 98,324,835 (GRCm39) |
H810Y |
probably benign |
Het |
| Fmn1 |
C |
A |
2: 113,274,713 (GRCm39) |
|
probably benign |
Het |
| Fpr3 |
A |
G |
17: 18,191,325 (GRCm39) |
T199A |
possibly damaging |
Het |
| Gcsh |
A |
G |
8: 117,710,688 (GRCm39) |
|
probably benign |
Het |
| Gm10073 |
T |
A |
8: 107,299,901 (GRCm39) |
I28F |
probably benign |
Het |
| Gucy1a2 |
C |
A |
9: 3,759,561 (GRCm39) |
Q456K |
probably damaging |
Het |
| Hgs |
C |
A |
11: 120,369,174 (GRCm39) |
P317T |
probably damaging |
Het |
| Inmt |
C |
A |
6: 55,148,213 (GRCm39) |
V139F |
probably damaging |
Het |
| Kcnma1 |
C |
A |
14: 23,551,211 (GRCm39) |
M460I |
possibly damaging |
Het |
| Map9 |
A |
T |
3: 82,286,272 (GRCm39) |
N359I |
probably damaging |
Het |
| Mavs |
T |
C |
2: 131,087,263 (GRCm39) |
S254P |
probably benign |
Het |
| Mcts1 |
T |
A |
X: 37,700,636 (GRCm39) |
|
probably benign |
Het |
| Mecp2 |
C |
A |
X: 73,079,447 (GRCm39) |
R344L |
possibly damaging |
Het |
| Or1e32 |
T |
G |
11: 73,705,612 (GRCm39) |
T99P |
probably damaging |
Het |
| Or4z4 |
A |
G |
19: 12,077,000 (GRCm39) |
M1T |
probably null |
Het |
| Or5b3 |
G |
T |
19: 13,388,114 (GRCm39) |
M60I |
probably damaging |
Het |
| Or8g36 |
T |
C |
9: 39,422,342 (GRCm39) |
I225V |
possibly damaging |
Het |
| Or8g54 |
T |
G |
9: 39,706,674 (GRCm39) |
M1R |
probably null |
Het |
| Or9g4 |
T |
C |
2: 85,504,701 (GRCm39) |
T265A |
probably benign |
Het |
| Rasgrp1 |
T |
C |
2: 117,119,144 (GRCm39) |
I498V |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,584,898 (GRCm39) |
S185T |
possibly damaging |
Het |
| Rd3 |
A |
T |
1: 191,717,283 (GRCm39) |
H251L |
possibly damaging |
Het |
| Rnf180 |
T |
A |
13: 105,386,864 (GRCm39) |
D148V |
probably damaging |
Het |
| Rnf43 |
C |
A |
11: 87,555,542 (GRCm39) |
A34E |
probably damaging |
Het |
| Rslcan18 |
A |
G |
13: 67,250,172 (GRCm39) |
V21A |
probably benign |
Het |
| Septin9 |
T |
C |
11: 117,243,469 (GRCm39) |
V128A |
probably damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,110,482 (GRCm39) |
H103R |
probably benign |
Het |
| Spata6l |
A |
T |
19: 28,873,532 (GRCm39) |
|
probably null |
Het |
| Ssh2 |
A |
G |
11: 77,340,732 (GRCm39) |
D628G |
probably damaging |
Het |
| Tlcd3a |
T |
C |
11: 76,098,051 (GRCm39) |
|
probably null |
Het |
| Tmem119 |
A |
G |
5: 113,933,546 (GRCm39) |
F85S |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,396,936 (GRCm39) |
I398N |
probably benign |
Het |
| Ttc3 |
T |
C |
16: 94,191,066 (GRCm39) |
Y203H |
probably benign |
Het |
| Vars1 |
G |
T |
17: 35,232,849 (GRCm39) |
V898L |
probably benign |
Het |
| Vmn1r85 |
A |
C |
7: 12,819,081 (GRCm39) |
V21G |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 14,072,045 (GRCm39) |
H65R |
possibly damaging |
Het |
|
| Other mutations in Atp6v1c2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01120:Atp6v1c2
|
APN |
12 |
17,358,294 (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 |
2013-12-09 |
Incidental Mutation