Incidental Mutation 'IGL00500:Atp6v1a'
| ID |
3972 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp6v1a
|
| Ensembl Gene |
ENSMUSG00000052459 |
| Gene Name |
ATPase, H+ transporting, lysosomal V1 subunit A |
| Synonyms |
Atp6a1, lysosomal 70kDa, VA68, VPP2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
IGL00500
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
43905765-43960055 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43931946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 114
(Q114R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063661]
[ENSMUST00000114666]
[ENSMUST00000124102]
[ENSMUST00000137557]
[ENSMUST00000147025]
|
| AlphaFold |
P50516 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063661
AA Change: Q114R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066886
Gene: ENSMUSG00000052459
AA Change: Q114R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_ab_N
|
21 |
83 |
8.5e-16 |
PFAM |
|
low complexity region
|
206 |
217 |
N/A |
INTRINSIC |
|
Pfam:ATP-synt_ab
|
229 |
455 |
4.4e-113 |
PFAM |
|
Pfam:ATP-synt_ab_C
|
473 |
617 |
2.4e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114666
AA Change: Q114R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110314
Gene: ENSMUSG00000052459
AA Change: Q114R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_ab_N
|
21 |
83 |
2.4e-16 |
PFAM |
|
Pfam:ATP-synt_ab_Xtn
|
99 |
221 |
3.3e-46 |
PFAM |
|
Pfam:ATP-synt_ab
|
230 |
455 |
3.3e-110 |
PFAM |
|
Pfam:ATP-synt_ab_C
|
473 |
617 |
2.4e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124102
AA Change: Q114R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000118429
Gene: ENSMUSG00000052459
AA Change: Q114R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_ab_N
|
21 |
83 |
1.4e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130036
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137557
AA Change: Q114R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116923
Gene: ENSMUSG00000052459
AA Change: Q114R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_ab_N
|
21 |
83 |
2e-17 |
PFAM |
|
low complexity region
|
206 |
217 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147025
|
| SMART Domains |
Protein: ENSMUSP00000118726
Gene: ENSMUSG00000052459
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_ab_N
|
21 |
77 |
3.6e-15 |
PFAM |
|
| 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 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 encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
G |
7: 119,383,567 (GRCm39) |
E576G |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,243 (GRCm39) |
V684A |
possibly damaging |
Het |
| Agl |
A |
G |
3: 116,566,469 (GRCm39) |
W965R |
probably damaging |
Het |
| AI467606 |
G |
A |
7: 126,691,505 (GRCm39) |
V27I |
probably benign |
Het |
| Ankrd34b |
G |
A |
13: 92,575,295 (GRCm39) |
G176R |
probably benign |
Het |
| Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
| B4galt2 |
A |
T |
4: 117,734,378 (GRCm39) |
L257Q |
probably damaging |
Het |
| Chrna10 |
A |
T |
7: 101,761,615 (GRCm39) |
C325* |
probably null |
Het |
| Clip2 |
A |
G |
5: 134,529,011 (GRCm39) |
|
probably benign |
Het |
| Crocc2 |
C |
T |
1: 93,144,766 (GRCm39) |
Q1437* |
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,971,139 (GRCm39) |
V3059M |
probably damaging |
Het |
| Cst5 |
C |
A |
2: 149,247,501 (GRCm39) |
S72R |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,908,618 (GRCm39) |
D1077G |
probably damaging |
Het |
| Dhx9 |
T |
C |
1: 153,341,494 (GRCm39) |
T585A |
probably damaging |
Het |
| Fam210a |
G |
A |
18: 68,408,854 (GRCm39) |
T152I |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,159,436 (GRCm39) |
Q2214L |
probably damaging |
Het |
| Fpr1 |
T |
A |
17: 18,097,263 (GRCm39) |
Q242L |
probably benign |
Het |
| G2e3 |
A |
G |
12: 51,400,581 (GRCm39) |
|
probably null |
Het |
| Gcdh |
C |
T |
8: 85,615,146 (GRCm39) |
|
probably benign |
Het |
| Gm18856 |
T |
C |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
| Itgb2 |
T |
A |
10: 77,400,558 (GRCm39) |
W724R |
probably damaging |
Het |
| Klhl2 |
T |
C |
8: 65,202,120 (GRCm39) |
T519A |
probably benign |
Het |
| Krtap12-1 |
G |
T |
10: 77,556,814 (GRCm39) |
C119F |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,361,341 (GRCm39) |
K369N |
probably damaging |
Het |
| Nrg1 |
T |
A |
8: 32,312,342 (GRCm39) |
|
probably null |
Het |
| Plekhh3 |
T |
A |
11: 101,056,519 (GRCm39) |
|
probably null |
Het |
| Ppm1b |
A |
G |
17: 85,310,712 (GRCm39) |
S289G |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,476,550 (GRCm39) |
*313C |
probably null |
Het |
| Rab40c |
T |
C |
17: 26,104,059 (GRCm39) |
E111G |
probably damaging |
Het |
| Skint11 |
T |
A |
4: 114,051,906 (GRCm39) |
C85S |
probably benign |
Het |
| Slc9a2 |
G |
A |
1: 40,802,743 (GRCm39) |
E598K |
possibly damaging |
Het |
| Slfn8 |
T |
A |
11: 82,904,310 (GRCm39) |
D360V |
possibly damaging |
Het |
| Sspo |
C |
A |
6: 48,474,355 (GRCm39) |
C4925* |
probably null |
Het |
| Vps8 |
A |
G |
16: 21,261,084 (GRCm39) |
T75A |
possibly damaging |
Het |
| Wfdc12 |
A |
T |
2: 164,032,170 (GRCm39) |
I40N |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,121,405 (GRCm39) |
T61S |
probably benign |
Het |
|
| Other mutations in Atp6v1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01860:Atp6v1a
|
APN |
16 |
43,920,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02691:Atp6v1a
|
APN |
16 |
43,931,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03256:Atp6v1a
|
APN |
16 |
43,931,451 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03307:Atp6v1a
|
APN |
16 |
43,931,922 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0605:Atp6v1a
|
UTSW |
16 |
43,931,859 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0696:Atp6v1a
|
UTSW |
16 |
43,907,834 (GRCm39) |
missense |
probably benign |
|
|
R0883:Atp6v1a
|
UTSW |
16 |
43,922,055 (GRCm39) |
splice site |
probably benign |
|
|
R1777:Atp6v1a
|
UTSW |
16 |
43,935,068 (GRCm39) |
nonsense |
probably null |
|
|
R2370:Atp6v1a
|
UTSW |
16 |
43,927,403 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2932:Atp6v1a
|
UTSW |
16 |
43,909,406 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3725:Atp6v1a
|
UTSW |
16 |
43,922,120 (GRCm39) |
splice site |
probably benign |
|
|
R4224:Atp6v1a
|
UTSW |
16 |
43,922,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5780:Atp6v1a
|
UTSW |
16 |
43,935,006 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5945:Atp6v1a
|
UTSW |
16 |
43,920,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6032:Atp6v1a
|
UTSW |
16 |
43,927,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Atp6v1a
|
UTSW |
16 |
43,927,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Atp6v1a
|
UTSW |
16 |
43,919,194 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6036:Atp6v1a
|
UTSW |
16 |
43,919,194 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6387:Atp6v1a
|
UTSW |
16 |
43,907,806 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6479:Atp6v1a
|
UTSW |
16 |
43,919,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6756:Atp6v1a
|
UTSW |
16 |
43,909,421 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7313:Atp6v1a
|
UTSW |
16 |
43,934,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8508:Atp6v1a
|
UTSW |
16 |
43,922,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8694:Atp6v1a
|
UTSW |
16 |
43,921,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9448:Atp6v1a
|
UTSW |
16 |
43,931,872 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation