Incidental Mutation 'R5291:Atp6v1e1'
| ID |
405146 |
| 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 |
042874-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5291 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
120772205-120799659 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 120795294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019354]
[ENSMUST00000203783]
[ENSMUST00000203783]
[ENSMUST00000204699]
[ENSMUST00000204699]
[ENSMUST00000205049]
|
| AlphaFold |
P50518 |
| Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000203432
|
| 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 null
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 null
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: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,823,394 (GRCm39) |
S328G |
probably damaging |
Het |
| Acot5 |
T |
G |
12: 84,120,293 (GRCm39) |
L216R |
probably benign |
Het |
| Ankrd6 |
A |
G |
4: 32,823,446 (GRCm39) |
L192P |
probably damaging |
Het |
| Bbs9 |
T |
C |
9: 22,540,293 (GRCm39) |
Y358H |
probably damaging |
Het |
| Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
| Camk2a |
A |
G |
18: 61,090,236 (GRCm39) |
K192R |
probably damaging |
Het |
| Ceacam1 |
T |
A |
7: 25,171,256 (GRCm39) |
R223W |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,703,096 (GRCm39) |
F173I |
probably damaging |
Het |
| Cntrl |
A |
C |
2: 35,024,072 (GRCm39) |
I33L |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 133,800,738 (GRCm39) |
S633P |
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,956,566 (GRCm39) |
H181R |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 71,025,205 (GRCm39) |
S542G |
probably benign |
Het |
| Dnm2 |
T |
G |
9: 21,390,203 (GRCm39) |
L402R |
probably damaging |
Het |
| Fndc3b |
C |
A |
3: 27,697,144 (GRCm39) |
V23L |
probably benign |
Het |
| Gata4 |
A |
C |
14: 63,478,048 (GRCm39) |
F184V |
probably damaging |
Het |
| Gcnt2 |
A |
G |
13: 41,072,268 (GRCm39) |
R304G |
probably damaging |
Het |
| Gm10563 |
TTTC |
TTTCCTTC |
4: 155,698,969 (GRCm39) |
|
probably benign |
Het |
| Gm26558 |
G |
A |
2: 70,491,873 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,922,874 (GRCm39) |
V1107I |
probably benign |
Het |
| Herpud2 |
C |
T |
9: 25,036,256 (GRCm39) |
G135S |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,429,747 (GRCm39) |
I441T |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,793,015 (GRCm39) |
D2553G |
probably damaging |
Het |
| Mkln1 |
T |
A |
6: 31,467,416 (GRCm39) |
N43K |
possibly damaging |
Het |
| Or4c12 |
A |
T |
2: 89,773,780 (GRCm39) |
Y226* |
probably null |
Het |
| Or5k17 |
T |
C |
16: 58,746,764 (GRCm39) |
T57A |
possibly damaging |
Het |
| Paxbp1 |
C |
T |
16: 90,841,240 (GRCm39) |
M1I |
probably null |
Het |
| Phip |
A |
G |
9: 82,827,936 (GRCm39) |
Y97H |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,058,211 (GRCm39) |
I3774F |
probably damaging |
Het |
| Pramel11 |
G |
T |
4: 143,622,237 (GRCm39) |
P373T |
probably damaging |
Het |
| Prrc2c |
C |
A |
1: 162,533,151 (GRCm39) |
|
probably benign |
Het |
| Prss12 |
T |
C |
3: 123,299,112 (GRCm39) |
L628P |
probably damaging |
Het |
| Ptpre |
G |
A |
7: 135,280,030 (GRCm39) |
V578I |
probably benign |
Het |
| Qsox2 |
A |
T |
2: 26,107,710 (GRCm39) |
L261H |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,977,366 (GRCm39) |
V1327E |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,075,967 (GRCm39) |
S306P |
probably benign |
Het |
| Rtel1 |
A |
G |
2: 180,993,888 (GRCm39) |
Q640R |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,815,023 (GRCm39) |
D175V |
probably benign |
Het |
| Scarf1 |
T |
C |
11: 75,414,900 (GRCm39) |
S525P |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 56,006,542 (GRCm39) |
Y982* |
probably null |
Het |
| Slc35b2 |
T |
C |
17: 45,877,424 (GRCm39) |
Y184H |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,223,446 (GRCm39) |
K1375E |
possibly damaging |
Het |
| Spats2 |
G |
T |
15: 99,076,422 (GRCm39) |
A167S |
probably benign |
Het |
| Spen |
C |
A |
4: 141,215,390 (GRCm39) |
A481S |
unknown |
Het |
| Spred3 |
T |
A |
7: 28,867,255 (GRCm39) |
H47L |
probably damaging |
Het |
| Srsf4 |
T |
A |
4: 131,613,617 (GRCm39) |
|
probably benign |
Het |
| Tdrd3 |
A |
T |
14: 87,743,234 (GRCm39) |
H394L |
probably benign |
Het |
| Terf1 |
A |
G |
1: 15,889,310 (GRCm39) |
|
probably null |
Het |
| Txlnb |
A |
T |
10: 17,675,144 (GRCm39) |
D99V |
possibly damaging |
Het |
| Ugt1a7c |
A |
T |
1: 88,023,231 (GRCm39) |
N130I |
possibly damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,781,752 (GRCm39) |
D331V |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,789,139 (GRCm39) |
I744T |
probably damaging |
Het |
| Ythdc1 |
A |
G |
5: 86,983,547 (GRCm39) |
D664G |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTGATTCAAGATGAGTGGGAAC -3'
(R):5'- AGGCCTGGAACTTGGTAATCC -3'
Sequencing Primer
(F):5'- GAACCTTCCCAATAAACACATTTTGG -3'
(R):5'- GAACTTGGTAATCCTCTTGTGAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation