Incidental Mutation 'IGL01020:Atp6v1e1'
| ID |
53629 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp6v1e1
|
| Ensembl Gene |
ENSMUSG00000019210 |
| Gene Name |
ATPase, H+ transporting, lysosomal V1 subunit E1 |
| Synonyms |
lysosomal 31kDa, H+ ATPase subunit E, Atp6v1e, 2410029D23Rik, Atp6e2, Atp6e, E2, D6Ertd385e, H(+)-ATPase E-like protein |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01020
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
120772205-120799659 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120785372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 40
(M40V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019354]
[ENSMUST00000203783]
[ENSMUST00000204699]
[ENSMUST00000205049]
|
| AlphaFold |
P50518 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019354
AA Change: M54V
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000019354
Gene: ENSMUSG00000019210
AA Change: M54V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:vATP-synt_E
|
18 |
216 |
7.6e-80 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203432
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203783
AA Change: M43V
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000145324
Gene: ENSMUSG00000019210
AA Change: M43V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:vATP-synt_E
|
7 |
118 |
2.5e-39 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204699
AA Change: M40V
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145437
Gene: ENSMUSG00000019210
AA Change: M40V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:vATP-synt_E
|
4 |
78 |
4.6e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205049
AA Change: M32V
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145353
Gene: ENSMUSG00000019210
AA Change: M32V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:vATP-synt_E
|
5 |
87 |
1e-26 |
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, 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 E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(18) : Gene trapped(18) |
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt3 |
T |
G |
1: 176,958,533 (GRCm39) |
|
probably benign |
Het |
| Aldh18a1 |
C |
T |
19: 40,557,625 (GRCm39) |
|
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,168,657 (GRCm39) |
H880R |
probably benign |
Het |
| Arhgef7 |
G |
A |
8: 11,832,540 (GRCm39) |
S5N |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,744,836 (GRCm39) |
V51A |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,259,623 (GRCm39) |
|
probably null |
Het |
| Btbd16 |
T |
A |
7: 130,426,091 (GRCm39) |
I502N |
probably damaging |
Het |
| Celsr2 |
G |
T |
3: 108,310,586 (GRCm39) |
L1499M |
probably damaging |
Het |
| Cfl1 |
C |
T |
19: 5,543,709 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,849,949 (GRCm39) |
E500G |
probably damaging |
Het |
| Dusp3 |
G |
T |
11: 101,875,470 (GRCm39) |
N31K |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,337,608 (GRCm39) |
|
probably benign |
Het |
| Fam234b |
G |
A |
6: 135,188,904 (GRCm39) |
V170M |
probably benign |
Het |
| Fign |
A |
G |
2: 63,809,354 (GRCm39) |
S639P |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,248,618 (GRCm39) |
T294A |
probably benign |
Het |
| Golm2 |
G |
A |
2: 121,756,203 (GRCm39) |
V411I |
probably benign |
Het |
| Ift80 |
C |
T |
3: 68,871,012 (GRCm39) |
D195N |
probably damaging |
Het |
| Kif21b |
G |
T |
1: 136,081,832 (GRCm39) |
|
probably benign |
Het |
| Kif2c |
A |
T |
4: 117,024,101 (GRCm39) |
F397I |
probably damaging |
Het |
| Lamc3 |
T |
C |
2: 31,804,668 (GRCm39) |
V567A |
probably benign |
Het |
| Letmd1 |
T |
C |
15: 100,369,640 (GRCm39) |
M36T |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,888,259 (GRCm39) |
W2220R |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,914,283 (GRCm39) |
|
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,494,973 (GRCm39) |
D691G |
possibly damaging |
Het |
| Myh8 |
G |
A |
11: 67,174,229 (GRCm39) |
V189M |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,804,644 (GRCm39) |
R1418K |
probably benign |
Het |
| Nkpd1 |
G |
A |
7: 19,252,674 (GRCm39) |
V7M |
possibly damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,543,473 (GRCm39) |
V1116I |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,105,905 (GRCm39) |
M875V |
probably benign |
Het |
| Oat |
T |
C |
7: 132,168,902 (GRCm39) |
|
probably null |
Het |
| Or7g35 |
G |
A |
9: 19,496,616 (GRCm39) |
S261N |
possibly damaging |
Het |
| Or8g24 |
A |
C |
9: 38,989,747 (GRCm39) |
I98R |
probably damaging |
Het |
| Prkaa2 |
C |
T |
4: 104,932,659 (GRCm39) |
R63Q |
probably damaging |
Het |
| Psg29 |
T |
A |
7: 16,942,657 (GRCm39) |
S219R |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,047,911 (GRCm39) |
|
probably null |
Het |
| Pwwp2b |
G |
T |
7: 138,834,771 (GRCm39) |
E71* |
probably null |
Het |
| Robo2 |
T |
C |
16: 73,725,039 (GRCm39) |
T1055A |
probably benign |
Het |
| Serpina9 |
T |
A |
12: 103,974,845 (GRCm39) |
N103Y |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,874,171 (GRCm39) |
E10G |
probably damaging |
Het |
| Tbck |
C |
T |
3: 132,432,903 (GRCm39) |
Q438* |
probably null |
Het |
| Thnsl1 |
T |
C |
2: 21,217,305 (GRCm39) |
L353S |
probably damaging |
Het |
| Tmem237 |
C |
A |
1: 59,146,612 (GRCm39) |
|
probably null |
Het |
| Tuba3a |
C |
T |
6: 125,258,303 (GRCm39) |
R229H |
probably damaging |
Het |
| Zbtb2 |
A |
G |
10: 4,319,702 (GRCm39) |
I108T |
probably benign |
Het |
| Zfp345 |
T |
C |
2: 150,314,967 (GRCm39) |
N190S |
possibly damaging |
Het |
|
| Other mutations in Atp6v1e1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01387:Atp6v1e1
|
APN |
6 |
120,772,732 (GRCm39) |
splice site |
probably null |
|
|
IGL01447:Atp6v1e1
|
APN |
6 |
120,772,654 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02372:Atp6v1e1
|
APN |
6 |
120,778,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0595:Atp6v1e1
|
UTSW |
6 |
120,778,091 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3801:Atp6v1e1
|
UTSW |
6 |
120,778,020 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4897:Atp6v1e1
|
UTSW |
6 |
120,781,044 (GRCm39) |
missense |
probably null |
0.88 |
|
R5291:Atp6v1e1
|
UTSW |
6 |
120,795,294 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5690:Atp6v1e1
|
UTSW |
6 |
120,785,317 (GRCm39) |
splice site |
probably null |
|
|
R6726:Atp6v1e1
|
UTSW |
6 |
120,781,011 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7080:Atp6v1e1
|
UTSW |
6 |
120,799,350 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Atp6v1e1
|
UTSW |
6 |
120,799,410 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Atp6v1e1
|
UTSW |
6 |
120,781,080 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Posted On |
2013-06-28 |
Incidental Mutation