Incidental Mutation 'R1625:Atp6v0a1'
ID |
174986 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp6v0a1
|
Ensembl Gene |
ENSMUSG00000019302 |
Gene Name |
ATPase, H+ transporting, lysosomal V0 subunit A1 |
Synonyms |
V-ATPase a1, Vpp-1, Vpp1, Atp6n1, Atp6n1a |
MMRRC Submission |
039662-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1625 (G1)
|
Quality Score |
149 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
100900278-100954545 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 100946380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 791
(L791Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131848
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044721]
[ENSMUST00000092663]
[ENSMUST00000103110]
[ENSMUST00000168757]
|
AlphaFold |
Q9Z1G4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044721
AA Change: L791Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044838 Gene: ENSMUSG00000019302 AA Change: L791Q
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092663
AA Change: L785Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090333 Gene: ENSMUSG00000019302 AA Change: L785Q
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
823 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103110
AA Change: L792Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099399 Gene: ENSMUSG00000019302 AA Change: L792Q
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
27 |
829 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168757
AA Change: L791Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131848 Gene: ENSMUSG00000019302 AA Change: L791Q
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
829 |
N/A |
PFAM |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.1%
|
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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,857,947 (GRCm39) |
M605L |
probably benign |
Het |
Abcc5 |
A |
T |
16: 20,184,567 (GRCm39) |
S1031T |
probably damaging |
Het |
Acot7 |
T |
A |
4: 152,270,748 (GRCm39) |
C31S |
probably benign |
Het |
Acss3 |
A |
T |
10: 106,773,263 (GRCm39) |
|
probably null |
Het |
Adipor1 |
T |
C |
1: 134,351,802 (GRCm39) |
F83S |
possibly damaging |
Het |
Agrn |
G |
A |
4: 156,257,317 (GRCm39) |
S1171L |
probably damaging |
Het |
Aoc1l1 |
T |
A |
6: 48,952,105 (GRCm39) |
L10Q |
probably damaging |
Het |
Arhgap5 |
T |
A |
12: 52,564,159 (GRCm39) |
C377S |
probably benign |
Het |
Arid4b |
T |
A |
13: 14,361,699 (GRCm39) |
V721D |
probably damaging |
Het |
Aspm |
G |
A |
1: 139,408,777 (GRCm39) |
A2555T |
probably benign |
Het |
Car11 |
A |
G |
7: 45,350,731 (GRCm39) |
K76E |
probably benign |
Het |
Casp8ap2 |
T |
A |
4: 32,648,068 (GRCm39) |
M1925K |
probably benign |
Het |
Cc2d1a |
A |
T |
8: 84,866,001 (GRCm39) |
L418Q |
probably damaging |
Het |
Ccl9 |
G |
A |
11: 83,466,736 (GRCm39) |
R64W |
probably damaging |
Het |
Cfap20dc |
A |
G |
14: 8,431,668 (GRCm38) |
Y655H |
probably damaging |
Het |
Cfap43 |
T |
A |
19: 47,739,527 (GRCm39) |
K1325N |
probably damaging |
Het |
Dars2 |
G |
A |
1: 160,881,614 (GRCm39) |
P305L |
possibly damaging |
Het |
Ddx11 |
C |
T |
17: 66,457,692 (GRCm39) |
T859I |
probably benign |
Het |
Dock7 |
C |
T |
4: 98,850,433 (GRCm39) |
|
probably null |
Het |
Efcab6 |
A |
G |
15: 83,831,839 (GRCm39) |
V570A |
probably benign |
Het |
Fermt1 |
T |
A |
2: 132,764,751 (GRCm39) |
I369F |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,861,849 (GRCm39) |
Y2161C |
probably damaging |
Het |
Fras1 |
C |
A |
5: 96,857,837 (GRCm39) |
P2044T |
possibly damaging |
Het |
Gucy1a1 |
T |
C |
3: 82,009,362 (GRCm39) |
I549V |
probably benign |
Het |
Hspg2 |
G |
A |
4: 137,246,282 (GRCm39) |
S1020N |
probably benign |
Het |
Kif21a |
A |
G |
15: 90,826,378 (GRCm39) |
S1360P |
probably damaging |
Het |
Lrp3 |
T |
C |
7: 34,903,350 (GRCm39) |
Y332C |
probably damaging |
Het |
Ltc4s |
C |
A |
11: 50,128,215 (GRCm39) |
A32S |
possibly damaging |
Het |
Mgrn1 |
T |
C |
16: 4,728,627 (GRCm39) |
L84P |
probably damaging |
Het |
Muc2 |
C |
G |
7: 141,283,405 (GRCm39) |
C672W |
probably damaging |
Het |
Mvp |
A |
T |
7: 126,600,845 (GRCm39) |
V52E |
probably damaging |
Het |
Ndrg2 |
T |
C |
14: 52,144,420 (GRCm39) |
T269A |
probably damaging |
Het |
Notch2 |
T |
A |
3: 98,018,891 (GRCm39) |
D684E |
probably damaging |
Het |
Nup205 |
A |
G |
6: 35,168,878 (GRCm39) |
D316G |
probably benign |
Het |
Or12e7 |
T |
A |
2: 87,288,016 (GRCm39) |
I169K |
probably damaging |
Het |
Or2v2 |
T |
C |
11: 49,004,071 (GRCm39) |
M161V |
probably benign |
Het |
Or7d11 |
A |
G |
9: 19,966,678 (GRCm39) |
L27P |
probably damaging |
Het |
Pcsk1 |
A |
T |
13: 75,274,971 (GRCm39) |
D520V |
probably benign |
Het |
Pik3cg |
A |
T |
12: 32,244,741 (GRCm39) |
D904E |
probably damaging |
Het |
Pitpnm2 |
T |
A |
5: 124,271,496 (GRCm39) |
D359V |
probably benign |
Het |
Ppih |
T |
C |
4: 119,175,779 (GRCm39) |
I69V |
probably damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,287,865 (GRCm39) |
E96G |
possibly damaging |
Het |
Retreg3 |
C |
A |
11: 100,992,875 (GRCm39) |
M1I |
probably null |
Het |
Rfpl4 |
C |
T |
7: 5,118,409 (GRCm39) |
V54I |
possibly damaging |
Het |
Rif1 |
T |
C |
2: 51,993,652 (GRCm39) |
I855T |
probably benign |
Het |
Rrm1 |
T |
A |
7: 102,117,554 (GRCm39) |
I748N |
probably damaging |
Het |
Sap130 |
T |
A |
18: 31,807,517 (GRCm39) |
N441K |
probably damaging |
Het |
Sf3b1 |
T |
A |
1: 55,058,536 (GRCm39) |
I18F |
probably damaging |
Het |
Skor2 |
A |
G |
18: 76,946,499 (GRCm39) |
N74D |
unknown |
Het |
Slc17a6 |
C |
A |
7: 51,311,208 (GRCm39) |
F307L |
probably benign |
Het |
Slc25a13 |
G |
A |
6: 6,096,675 (GRCm39) |
L410F |
probably damaging |
Het |
Slc47a1 |
A |
T |
11: 61,262,625 (GRCm39) |
V38E |
probably damaging |
Het |
Slc8a1 |
T |
A |
17: 81,956,670 (GRCm39) |
T123S |
probably damaging |
Het |
Slc9a5 |
C |
A |
8: 106,094,755 (GRCm39) |
T782K |
possibly damaging |
Het |
Spmip7 |
C |
A |
11: 11,438,644 (GRCm39) |
|
probably benign |
Het |
Sppl2c |
C |
A |
11: 104,077,995 (GRCm39) |
T265K |
probably damaging |
Het |
Srfbp1 |
A |
G |
18: 52,621,788 (GRCm39) |
K283R |
probably benign |
Het |
Ssr1 |
C |
T |
13: 38,173,479 (GRCm39) |
|
probably null |
Het |
Stard3nl |
T |
C |
13: 19,556,754 (GRCm39) |
|
probably null |
Het |
Timeless |
G |
T |
10: 128,076,493 (GRCm39) |
S134I |
probably damaging |
Het |
Tll1 |
A |
G |
8: 64,494,476 (GRCm39) |
F760L |
probably damaging |
Het |
Tspear |
A |
G |
10: 77,706,333 (GRCm39) |
I368V |
probably benign |
Het |
Txnrd2 |
G |
T |
16: 18,257,116 (GRCm39) |
W144L |
probably damaging |
Het |
Unc5d |
T |
C |
8: 29,173,234 (GRCm39) |
E668G |
probably damaging |
Het |
Urb1 |
C |
T |
16: 90,570,936 (GRCm39) |
|
probably null |
Het |
Uts2r |
A |
G |
11: 121,052,033 (GRCm39) |
Y299C |
probably damaging |
Het |
Vmn1r66 |
G |
T |
7: 10,008,316 (GRCm39) |
T239K |
probably benign |
Het |
Vps39 |
C |
T |
2: 120,154,106 (GRCm39) |
V630M |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,819,158 (GRCm39) |
T22A |
probably benign |
Het |
Zfp7 |
T |
A |
15: 76,765,374 (GRCm39) |
D22E |
probably damaging |
Het |
|
Other mutations in Atp6v0a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00687:Atp6v0a1
|
APN |
11 |
100,921,331 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01024:Atp6v0a1
|
APN |
11 |
100,939,265 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01390:Atp6v0a1
|
APN |
11 |
100,934,628 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02214:Atp6v0a1
|
APN |
11 |
100,930,666 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02639:Atp6v0a1
|
APN |
11 |
100,946,344 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0125:Atp6v0a1
|
UTSW |
11 |
100,929,677 (GRCm39) |
splice site |
probably null |
|
R0193:Atp6v0a1
|
UTSW |
11 |
100,939,308 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0265:Atp6v0a1
|
UTSW |
11 |
100,939,341 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0973:Atp6v0a1
|
UTSW |
11 |
100,946,317 (GRCm39) |
nonsense |
probably null |
|
R0973:Atp6v0a1
|
UTSW |
11 |
100,946,317 (GRCm39) |
nonsense |
probably null |
|
R0974:Atp6v0a1
|
UTSW |
11 |
100,946,317 (GRCm39) |
nonsense |
probably null |
|
R1460:Atp6v0a1
|
UTSW |
11 |
100,924,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R1580:Atp6v0a1
|
UTSW |
11 |
100,920,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R1644:Atp6v0a1
|
UTSW |
11 |
100,929,612 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1779:Atp6v0a1
|
UTSW |
11 |
100,917,511 (GRCm39) |
missense |
probably benign |
0.01 |
R2895:Atp6v0a1
|
UTSW |
11 |
100,935,424 (GRCm39) |
missense |
probably benign |
|
R2926:Atp6v0a1
|
UTSW |
11 |
100,934,774 (GRCm39) |
missense |
probably damaging |
0.99 |
R3727:Atp6v0a1
|
UTSW |
11 |
100,921,246 (GRCm39) |
missense |
probably benign |
0.01 |
R3943:Atp6v0a1
|
UTSW |
11 |
100,946,343 (GRCm39) |
missense |
probably benign |
0.00 |
R4820:Atp6v0a1
|
UTSW |
11 |
100,933,776 (GRCm39) |
missense |
probably benign |
0.00 |
R5119:Atp6v0a1
|
UTSW |
11 |
100,911,341 (GRCm39) |
missense |
probably benign |
0.02 |
R5250:Atp6v0a1
|
UTSW |
11 |
100,933,870 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5377:Atp6v0a1
|
UTSW |
11 |
100,946,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R5393:Atp6v0a1
|
UTSW |
11 |
100,929,633 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5497:Atp6v0a1
|
UTSW |
11 |
100,920,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R5787:Atp6v0a1
|
UTSW |
11 |
100,909,400 (GRCm39) |
missense |
probably benign |
0.04 |
R6054:Atp6v0a1
|
UTSW |
11 |
100,930,715 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6076:Atp6v0a1
|
UTSW |
11 |
100,945,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R6889:Atp6v0a1
|
UTSW |
11 |
100,920,009 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7035:Atp6v0a1
|
UTSW |
11 |
100,918,183 (GRCm39) |
missense |
probably damaging |
0.97 |
R7084:Atp6v0a1
|
UTSW |
11 |
100,924,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R7212:Atp6v0a1
|
UTSW |
11 |
100,934,783 (GRCm39) |
missense |
probably benign |
0.08 |
R8289:Atp6v0a1
|
UTSW |
11 |
100,924,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R8461:Atp6v0a1
|
UTSW |
11 |
100,935,400 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8680:Atp6v0a1
|
UTSW |
11 |
100,953,229 (GRCm39) |
makesense |
probably null |
|
R8725:Atp6v0a1
|
UTSW |
11 |
100,920,015 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8727:Atp6v0a1
|
UTSW |
11 |
100,920,015 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8935:Atp6v0a1
|
UTSW |
11 |
100,929,519 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9658:Atp6v0a1
|
UTSW |
11 |
100,909,414 (GRCm39) |
missense |
probably benign |
0.18 |
R9762:Atp6v0a1
|
UTSW |
11 |
100,946,427 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9779:Atp6v0a1
|
UTSW |
11 |
100,924,938 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Atp6v0a1
|
UTSW |
11 |
100,935,423 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATCTTGCCCAAAGCGGTCAG -3'
(R):5'- TTCCCGGAAGCCATGAAAAGATGAG -3'
Sequencing Primer
(F):5'- CAGGGCTCAAGGAACTCAGC -3'
(R):5'- CCTTCCCTGTGCTAGGAAAGTG -3'
|
Posted On |
2014-04-24 |