Incidental Mutation 'IGL03243:Atp6v1c2'
| ID |
414318 |
| 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 # |
IGL03243
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
17334722-17375700 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17339122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 210
(V210I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020884]
[ENSMUST00000057288]
[ENSMUST00000095820]
[ENSMUST00000140751]
[ENSMUST00000156727]
[ENSMUST00000221129]
|
| AlphaFold |
Q99L60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020884
AA Change: V290I
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566
AA Change: V290I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
427 |
3.9e-156 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057288
|
| SMART Domains |
Protein: ENSMUSP00000052912
Gene: ENSMUSG00000020571
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
31 |
134 |
5.6e-32 |
PFAM |
|
low complexity region
|
143 |
159 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
166 |
272 |
7.4e-33 |
PFAM |
|
low complexity region
|
427 |
445 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095820
AA Change: V280I
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000093500
Gene: ENSMUSG00000020566
AA Change: V280I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
417 |
3.4e-165 |
PFAM |
|
| Predicted Effect |
probably benign
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: ENSMUST00000156727
AA Change: V210I
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000117139
Gene: ENSMUSG00000020566
AA Change: V210I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
1 |
347 |
2.5e-135 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221129
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
C |
8: 44,021,733 (GRCm39) |
T586A |
probably benign |
Het |
| Agtr1b |
T |
C |
3: 20,369,959 (GRCm39) |
T216A |
probably benign |
Het |
| Ankdd1a |
T |
C |
9: 65,408,752 (GRCm39) |
R505G |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,976,551 (GRCm39) |
|
probably benign |
Het |
| BC034090 |
G |
A |
1: 155,101,401 (GRCm39) |
P288S |
possibly damaging |
Het |
| Catsper2 |
T |
C |
2: 121,237,300 (GRCm39) |
H200R |
probably benign |
Het |
| Ceacam23 |
A |
T |
7: 17,652,574 (GRCm39) |
|
noncoding transcript |
Het |
| Cntnap5c |
G |
T |
17: 58,409,171 (GRCm39) |
A470S |
probably benign |
Het |
| Fcho2 |
G |
A |
13: 98,913,892 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
C |
4: 82,932,206 (GRCm39) |
L165R |
probably damaging |
Het |
| Gpn1 |
G |
A |
5: 31,668,175 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,242,301 (GRCm39) |
N181S |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,070,509 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,400,238 (GRCm39) |
N333S |
possibly damaging |
Het |
| Lrp5 |
T |
C |
19: 3,680,159 (GRCm39) |
T442A |
probably benign |
Het |
| Myo15a |
G |
T |
11: 60,387,344 (GRCm39) |
L722F |
probably damaging |
Het |
| Nlrp9c |
T |
G |
7: 26,064,457 (GRCm39) |
D957A |
probably damaging |
Het |
| Nup58 |
T |
A |
14: 60,459,065 (GRCm39) |
T521S |
probably benign |
Het |
| Or7e165 |
T |
G |
9: 19,694,564 (GRCm39) |
I45S |
probably damaging |
Het |
| Plek |
C |
A |
11: 16,945,319 (GRCm39) |
V4L |
possibly damaging |
Het |
| Sell |
T |
A |
1: 163,892,911 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,533 (GRCm39) |
I702K |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,133,387 (GRCm39) |
I573V |
probably benign |
Het |
| Tgm1 |
T |
A |
14: 55,943,364 (GRCm39) |
I526F |
probably damaging |
Het |
| Tmem30c |
A |
T |
16: 57,096,513 (GRCm39) |
S203T |
probably benign |
Het |
| Tox |
T |
C |
4: 6,697,597 (GRCm39) |
N402S |
possibly damaging |
Het |
| Trav7d-4 |
C |
A |
14: 53,007,555 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
T |
11: 115,958,670 (GRCm39) |
V784D |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,882,963 (GRCm39) |
V263A |
possibly damaging |
Het |
| Zfp385c |
A |
T |
11: 100,525,573 (GRCm39) |
V56D |
probably damaging |
Het |
| Znrf2 |
A |
T |
6: 54,861,754 (GRCm39) |
I222L |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation