Incidental Mutation 'IGL01447:Atp6v1e1'
ID |
84485 |
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 # |
IGL01447
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
120772205-120799659 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
T to C
at 120772654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019354]
[ENSMUST00000112682]
[ENSMUST00000203783]
|
AlphaFold |
P50518 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019354
|
SMART Domains |
Protein: ENSMUSP00000019354 Gene: ENSMUSG00000019210
Domain | Start | End | E-Value | Type |
Pfam:vATP-synt_E
|
18 |
216 |
7.6e-80 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112682
|
SMART Domains |
Protein: ENSMUSP00000108302 Gene: ENSMUSG00000004902
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
9 |
102 |
6.8e-27 |
PFAM |
Pfam:Mito_carr
|
104 |
218 |
1.2e-17 |
PFAM |
Pfam:Mito_carr
|
222 |
310 |
7.9e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176615
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203527
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203783
|
SMART Domains |
Protein: ENSMUSP00000145324 Gene: ENSMUSG00000019210
Domain | Start | End | E-Value | Type |
Pfam:vATP-synt_E
|
7 |
118 |
2.5e-39 |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apbb1ip |
T |
G |
2: 22,743,194 (GRCm39) |
I342S |
probably damaging |
Het |
Armh4 |
A |
T |
14: 50,005,923 (GRCm39) |
S591T |
probably damaging |
Het |
Brwd1 |
A |
T |
16: 95,848,579 (GRCm39) |
C533* |
probably null |
Het |
Cacna2d4 |
A |
G |
6: 119,219,865 (GRCm39) |
S212G |
probably damaging |
Het |
Ccn5 |
A |
G |
2: 163,670,942 (GRCm39) |
R150G |
probably damaging |
Het |
Cit |
T |
C |
5: 116,011,902 (GRCm39) |
|
probably benign |
Het |
Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
Cmklr1 |
T |
C |
5: 113,752,282 (GRCm39) |
T240A |
probably benign |
Het |
D630003M21Rik |
T |
C |
2: 158,059,276 (GRCm39) |
D208G |
probably benign |
Het |
Egr3 |
C |
A |
14: 70,316,732 (GRCm39) |
P143Q |
probably damaging |
Het |
Fbxw18 |
T |
A |
9: 109,530,675 (GRCm39) |
S41C |
probably damaging |
Het |
Focad |
T |
A |
4: 88,244,465 (GRCm39) |
I815N |
unknown |
Het |
Heatr5b |
T |
C |
17: 79,137,026 (GRCm39) |
T165A |
probably benign |
Het |
Iqub |
G |
T |
6: 24,505,627 (GRCm39) |
L94I |
probably benign |
Het |
Lrrc32 |
T |
C |
7: 98,147,583 (GRCm39) |
L121P |
probably damaging |
Het |
Mansc1 |
G |
A |
6: 134,594,289 (GRCm39) |
L118F |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,615,214 (GRCm39) |
H1693R |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,416,831 (GRCm39) |
Q3259R |
probably benign |
Het |
Nmnat2 |
A |
G |
1: 152,988,189 (GRCm39) |
S273G |
possibly damaging |
Het |
Npr2 |
T |
C |
4: 43,640,554 (GRCm39) |
C336R |
possibly damaging |
Het |
Or10al6 |
C |
T |
17: 38,083,122 (GRCm39) |
L193F |
probably damaging |
Het |
Or1f19 |
A |
G |
16: 3,410,848 (GRCm39) |
N196S |
possibly damaging |
Het |
Or1j11 |
A |
T |
2: 36,311,466 (GRCm39) |
I19F |
probably damaging |
Het |
Or56b1b |
A |
G |
7: 108,164,216 (GRCm39) |
V262A |
possibly damaging |
Het |
Or5aq1 |
A |
T |
2: 86,966,343 (GRCm39) |
Y107* |
probably null |
Het |
Or5d36 |
T |
C |
2: 87,901,468 (GRCm39) |
N86S |
possibly damaging |
Het |
Rad54l2 |
C |
T |
9: 106,579,971 (GRCm39) |
A967T |
probably damaging |
Het |
Rspo1 |
T |
C |
4: 124,898,829 (GRCm39) |
V50A |
possibly damaging |
Het |
Sar1b |
C |
T |
11: 51,682,274 (GRCm39) |
|
probably benign |
Het |
Scamp1 |
C |
T |
13: 94,340,530 (GRCm39) |
A280T |
probably damaging |
Het |
Spcs2 |
A |
G |
7: 99,488,911 (GRCm39) |
I251T |
probably benign |
Het |
Sspo |
G |
T |
6: 48,441,600 (GRCm39) |
|
probably null |
Het |
Tpm2 |
T |
A |
4: 43,518,251 (GRCm39) |
K251* |
probably null |
Het |
Ttn |
A |
G |
2: 76,571,250 (GRCm39) |
S26548P |
probably damaging |
Het |
Ugcg |
T |
G |
4: 59,213,865 (GRCm39) |
V149G |
possibly damaging |
Het |
Unc79 |
T |
A |
12: 103,045,177 (GRCm39) |
N784K |
probably damaging |
Het |
Vit |
A |
G |
17: 78,932,633 (GRCm39) |
D580G |
probably damaging |
Het |
Vmn1r83 |
T |
C |
7: 12,055,424 (GRCm39) |
K211R |
probably benign |
Het |
Zbtb3 |
A |
G |
19: 8,781,680 (GRCm39) |
Y431C |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,032,083 (GRCm39) |
D619G |
possibly damaging |
Het |
|
Other mutations in Atp6v1e1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01020:Atp6v1e1
|
APN |
6 |
120,785,372 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01387:Atp6v1e1
|
APN |
6 |
120,772,732 (GRCm39) |
splice site |
probably null |
|
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 |
2013-11-11 |