Incidental Mutation 'R6726:Atp6v1e1'
ID |
529860 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
044844-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6726 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
120772205-120799659 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 120781011 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019354]
[ENSMUST00000203783]
[ENSMUST00000203783]
[ENSMUST00000204699]
[ENSMUST00000205049]
|
AlphaFold |
P50518 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019354
AA Change: V120D
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000019354 Gene: ENSMUSG00000019210 AA Change: V120D
Domain | Start | End | E-Value | Type |
Pfam:vATP-synt_E
|
18 |
216 |
7.6e-80 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203527
|
Predicted Effect |
probably null
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 null
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: ENSMUST00000204699
|
SMART Domains |
Protein: ENSMUSP00000145437 Gene: ENSMUSG00000019210
Domain | Start | End | E-Value | Type |
Pfam:vATP-synt_E
|
4 |
78 |
4.6e-29 |
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (41/41) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,735,540 (GRCm39) |
|
probably null |
Het |
Arsk |
T |
C |
13: 76,222,907 (GRCm39) |
Y230C |
probably damaging |
Het |
Atf7ip |
G |
A |
6: 136,559,389 (GRCm39) |
V737M |
probably damaging |
Het |
Bbs9 |
T |
C |
9: 22,557,260 (GRCm39) |
V3A |
probably benign |
Het |
Brap |
T |
C |
5: 121,813,365 (GRCm39) |
S243P |
probably damaging |
Het |
Camkmt |
T |
A |
17: 85,702,037 (GRCm39) |
I167N |
probably damaging |
Het |
Ckap2l |
C |
A |
2: 129,111,114 (GRCm39) |
E694D |
probably damaging |
Het |
Crmp1 |
G |
A |
5: 37,441,408 (GRCm39) |
V497I |
probably benign |
Het |
Dbx2 |
A |
G |
15: 95,522,741 (GRCm39) |
V322A |
possibly damaging |
Het |
Dll1 |
C |
A |
17: 15,590,513 (GRCm39) |
C401F |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,490,147 (GRCm39) |
T1991A |
probably damaging |
Het |
Dock3 |
C |
T |
9: 107,036,651 (GRCm39) |
W42* |
probably null |
Het |
Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
Hdac1-ps |
A |
G |
17: 78,800,287 (GRCm39) |
E426G |
probably damaging |
Het |
Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
Irs2 |
T |
C |
8: 11,054,961 (GRCm39) |
N1157S |
possibly damaging |
Het |
Kndc1 |
T |
C |
7: 139,502,667 (GRCm39) |
|
probably null |
Het |
Map3k19 |
T |
C |
1: 127,748,185 (GRCm39) |
N1241S |
probably benign |
Het |
Or9g4b |
T |
C |
2: 85,615,906 (GRCm39) |
F17S |
possibly damaging |
Het |
Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
Pcdh17 |
T |
A |
14: 84,683,657 (GRCm39) |
D41E |
probably damaging |
Het |
Plg |
T |
G |
17: 12,597,595 (GRCm39) |
L14R |
probably damaging |
Het |
Prkab1 |
A |
G |
5: 116,158,092 (GRCm39) |
V168A |
probably benign |
Het |
Prr35 |
G |
C |
17: 26,166,689 (GRCm39) |
P283A |
probably benign |
Het |
Ptdss1 |
C |
T |
13: 67,101,595 (GRCm39) |
R95* |
probably null |
Het |
Rab3gap2 |
T |
G |
1: 184,980,062 (GRCm39) |
S327A |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Homo |
Sdr42e2 |
T |
C |
7: 120,425,332 (GRCm39) |
S308P |
probably damaging |
Het |
Senp8 |
C |
A |
9: 59,644,473 (GRCm39) |
V228L |
probably benign |
Het |
Serpina10 |
A |
T |
12: 103,594,628 (GRCm39) |
I197K |
probably benign |
Het |
Serpinb6d |
A |
G |
13: 33,854,718 (GRCm39) |
N231S |
probably benign |
Het |
Sez6l2 |
T |
C |
7: 126,567,177 (GRCm39) |
V869A |
probably damaging |
Het |
Sgo2b |
T |
A |
8: 64,380,769 (GRCm39) |
K688* |
probably null |
Het |
Sh3kbp1 |
A |
T |
X: 158,624,176 (GRCm39) |
E39D |
probably benign |
Homo |
Ufsp2 |
T |
C |
8: 46,438,504 (GRCm39) |
M194T |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,485,881 (GRCm39) |
I2997T |
possibly damaging |
Het |
Vmn2r107 |
G |
A |
17: 20,595,637 (GRCm39) |
G730D |
probably damaging |
Het |
Wdr72 |
T |
C |
9: 74,059,822 (GRCm39) |
Y411H |
possibly damaging |
Het |
Xirp2 |
T |
C |
2: 67,343,212 (GRCm39) |
S1818P |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCAGGCAGGTAGATTTAACTAG -3'
(R):5'- GTGAGGACATACGCTGGATG -3'
Sequencing Primer
(F):5'- AGGAAATAGTATGACACTTTCAAGTC -3'
(R):5'- ACATACGCTGGATGGGTGGC -3'
|
Posted On |
2018-08-01 |