Incidental Mutation 'R2932:Atp6v1a'
| ID |
254984 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2932 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
43905765-43960055 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43909406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 542
(S542P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063661]
[ENSMUST00000114666]
|
| AlphaFold |
P50516 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063661
AA Change: S542P
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000066886
Gene: ENSMUSG00000052459
AA Change: S542P
| 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: S542P
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110314
Gene: ENSMUSG00000052459
AA Change: S542P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
G |
6: 85,597,544 (GRCm39) |
D1259G |
possibly damaging |
Het |
| Arpp21 |
T |
C |
9: 112,008,173 (GRCm39) |
D106G |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,612,538 (GRCm39) |
N209S |
probably benign |
Het |
| Ccdc15 |
G |
A |
9: 37,226,954 (GRCm39) |
T327I |
probably benign |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,287,240 (GRCm39) |
S761L |
probably damaging |
Het |
| Loricrin |
AGCCGCCGCCGCCGCCGCCGCCGCCGCC |
AGCCGCCGCCGCCGCCGCCGCCGCC |
3: 91,989,185 (GRCm39) |
|
probably benign |
Het |
| Lrrc1 |
T |
A |
9: 77,364,721 (GRCm39) |
H153L |
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 96,931,935 (GRCm39) |
|
probably benign |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,194 (GRCm39) |
L177S |
probably benign |
Het |
| Mtmr2 |
A |
T |
9: 13,660,413 (GRCm39) |
|
probably benign |
Het |
| Mtnr1b |
A |
T |
9: 15,785,620 (GRCm39) |
V46E |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,103,418 (GRCm39) |
E207G |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,830,430 (GRCm39) |
S137P |
probably benign |
Het |
| Nipal1 |
A |
G |
5: 72,824,978 (GRCm39) |
I224V |
possibly damaging |
Het |
| Oas1g |
T |
G |
5: 121,017,206 (GRCm39) |
K283Q |
probably benign |
Het |
| Pex12 |
T |
A |
11: 83,187,049 (GRCm39) |
M300L |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,569,148 (GRCm39) |
V1237A |
possibly damaging |
Het |
| Rc3h2 |
C |
A |
2: 37,268,371 (GRCm39) |
V920F |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
|
| Other mutations in Atp6v1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Atp6v1a
|
APN |
16 |
43,931,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTATTCGCACACCTGTGG -3'
(R):5'- TTGACAGTCTCAGCAGAGCAG -3'
Sequencing Primer
(F):5'- TGGCACAGGTATGTATGACCAAC -3'
(R):5'- AGCCAGCATTTCTTTCAGTACAGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation