Incidental Mutation 'IGL02372:Atp6v1e1'
| ID |
290972 |
| 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 # |
IGL02372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
120772205-120799659 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120778084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 150
(K150N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019354]
[ENSMUST00000203783]
[ENSMUST00000205049]
|
| AlphaFold |
P50518 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019354
AA Change: K150N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000019354
Gene: ENSMUSG00000019210
AA Change: K150N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:vATP-synt_E
|
18 |
216 |
7.6e-80 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203432
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205049
|
| SMART Domains |
Protein: ENSMUSP00000145353
Gene: ENSMUSG00000019210
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
A |
G |
11: 120,485,701 (GRCm39) |
|
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,332,461 (GRCm39) |
|
probably null |
Het |
| Arc |
A |
G |
15: 74,543,954 (GRCm39) |
S90P |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,844,674 (GRCm39) |
|
probably benign |
Het |
| Ccnb1 |
A |
G |
13: 100,917,824 (GRCm39) |
Y259H |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,814,108 (GRCm39) |
V1938A |
probably benign |
Het |
| Ckmt2 |
A |
G |
13: 92,013,343 (GRCm39) |
V37A |
probably benign |
Het |
| Dpys |
G |
T |
15: 39,656,667 (GRCm39) |
P467T |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,760,862 (GRCm39) |
T1535A |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,179,986 (GRCm39) |
L302P |
probably benign |
Het |
| Faf1 |
T |
G |
4: 109,792,779 (GRCm39) |
F584V |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,707,772 (GRCm39) |
R72C |
probably damaging |
Het |
| Gm9892 |
T |
C |
8: 52,649,871 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
G |
T |
13: 14,438,706 (GRCm39) |
D892E |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,795,790 (GRCm39) |
E474G |
possibly damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,559,401 (GRCm39) |
F297V |
probably damaging |
Het |
| Myc |
A |
G |
15: 61,859,707 (GRCm39) |
N127D |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,986,613 (GRCm39) |
N671K |
probably benign |
Het |
| Nup210l |
C |
A |
3: 90,109,278 (GRCm39) |
T1607N |
possibly damaging |
Het |
| Or8s8 |
A |
T |
15: 98,354,709 (GRCm39) |
T173S |
probably damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,974,370 (GRCm39) |
K22* |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,513,650 (GRCm39) |
L942P |
probably damaging |
Het |
| Plekhg5 |
C |
T |
4: 152,186,537 (GRCm39) |
R40W |
probably damaging |
Het |
| Pomt2 |
C |
T |
12: 87,169,609 (GRCm39) |
|
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,847,298 (GRCm39) |
|
probably benign |
Het |
| Sbk1 |
T |
C |
7: 125,890,230 (GRCm39) |
L81P |
probably damaging |
Het |
| Scrib |
G |
A |
15: 75,920,104 (GRCm39) |
P1524S |
probably damaging |
Het |
| Smpdl3a |
T |
A |
10: 57,683,611 (GRCm39) |
N240K |
probably benign |
Het |
| Smyd4 |
A |
T |
11: 75,281,111 (GRCm39) |
K195* |
probably null |
Het |
| Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
| Tulp3 |
A |
T |
6: 128,304,561 (GRCm39) |
M231K |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 67,668,739 (GRCm39) |
|
probably benign |
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 |
|
|
IGL01447:Atp6v1e1
|
APN |
6 |
120,772,654 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation