Incidental Mutation 'IGL03100:Atp6v0d2'
ID |
418715 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atp6v0d2
|
Ensembl Gene |
ENSMUSG00000028238 |
Gene Name |
ATPase, H+ transporting, lysosomal V0 subunit D2 |
Synonyms |
1620401A02Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03100
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
19876838-19922566 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 19910586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029900]
[ENSMUST00000029900]
[ENSMUST00000128605]
[ENSMUST00000128605]
|
AlphaFold |
Q80SY3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000029900
|
SMART Domains |
Protein: ENSMUSP00000029900 Gene: ENSMUSG00000028238
Domain | Start | End | E-Value | Type |
Pfam:vATP-synt_AC39
|
16 |
346 |
6.2e-113 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000029900
|
SMART Domains |
Protein: ENSMUSP00000029900 Gene: ENSMUSG00000028238
Domain | Start | End | E-Value | Type |
Pfam:vATP-synt_AC39
|
16 |
346 |
6.2e-113 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000128605
|
Predicted Effect |
probably null
Transcript: ENSMUST00000128605
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display osteopetrosis and impaired osteoclast maturation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,208,527 (GRCm39) |
R233S |
probably benign |
Het |
Abcc9 |
A |
T |
6: 142,640,270 (GRCm39) |
W73R |
probably damaging |
Het |
Ago1 |
A |
G |
4: 126,336,964 (GRCm39) |
V247A |
probably benign |
Het |
Anpep |
T |
A |
7: 79,486,109 (GRCm39) |
T538S |
probably benign |
Het |
Asb14 |
A |
G |
14: 26,625,329 (GRCm39) |
K228R |
probably benign |
Het |
B3gat2 |
A |
T |
1: 23,802,272 (GRCm39) |
D186V |
probably damaging |
Het |
Bmpr1a |
A |
T |
14: 34,163,164 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,732,175 (GRCm39) |
D224G |
probably damaging |
Het |
Cd6 |
T |
C |
19: 10,770,303 (GRCm39) |
M463V |
probably benign |
Het |
Clasp1 |
T |
C |
1: 118,395,626 (GRCm39) |
I188T |
possibly damaging |
Het |
Cldn17 |
G |
T |
16: 88,303,489 (GRCm39) |
A80E |
probably damaging |
Het |
Clptm1l |
A |
G |
13: 73,760,509 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
A |
T |
9: 105,814,512 (GRCm39) |
V500E |
unknown |
Het |
Ctdspl2 |
C |
T |
2: 121,809,394 (GRCm39) |
T115I |
probably benign |
Het |
Dbh |
G |
T |
2: 27,055,534 (GRCm39) |
A3S |
probably benign |
Het |
Fgd4 |
A |
G |
16: 16,295,383 (GRCm39) |
|
probably benign |
Het |
Gm4952 |
T |
A |
19: 12,602,083 (GRCm39) |
|
probably null |
Het |
Grik4 |
A |
G |
9: 42,461,751 (GRCm39) |
M551T |
probably damaging |
Het |
Hecw2 |
T |
C |
1: 53,870,815 (GRCm39) |
I1389V |
probably damaging |
Het |
Hkdc1 |
T |
C |
10: 62,253,608 (GRCm39) |
T58A |
probably benign |
Het |
Kcnh2 |
T |
C |
5: 24,527,682 (GRCm39) |
K890R |
probably damaging |
Het |
Kif24 |
T |
C |
4: 41,394,446 (GRCm39) |
H809R |
possibly damaging |
Het |
Knl1 |
A |
G |
2: 118,931,251 (GRCm39) |
E1989G |
probably damaging |
Het |
Muc15 |
A |
G |
2: 110,561,939 (GRCm39) |
D125G |
probably damaging |
Het |
Ogdhl |
A |
T |
14: 32,064,029 (GRCm39) |
M632L |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,531,499 (GRCm39) |
I1374T |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,046,243 (GRCm39) |
N670K |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,804,018 (GRCm39) |
H590R |
probably damaging |
Het |
Scara3 |
A |
C |
14: 66,168,722 (GRCm39) |
H298Q |
probably damaging |
Het |
Sirt3 |
T |
C |
7: 140,445,030 (GRCm39) |
D256G |
probably damaging |
Het |
Slc13a2 |
T |
C |
11: 78,295,299 (GRCm39) |
Q158R |
probably damaging |
Het |
Slco5a1 |
T |
A |
1: 12,949,504 (GRCm39) |
T629S |
possibly damaging |
Het |
Speer4f2 |
A |
G |
5: 17,581,528 (GRCm39) |
K157E |
probably damaging |
Het |
Srsf1 |
T |
A |
11: 87,939,954 (GRCm39) |
D155E |
probably damaging |
Het |
Tln2 |
C |
T |
9: 67,203,019 (GRCm39) |
R534H |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,591,992 (GRCm39) |
|
probably benign |
Het |
Ube2m |
A |
G |
7: 12,771,562 (GRCm39) |
L32P |
probably benign |
Het |
Wdr24 |
T |
A |
17: 26,044,681 (GRCm39) |
F179I |
possibly damaging |
Het |
Zfp961 |
T |
C |
8: 72,721,754 (GRCm39) |
*69Q |
probably null |
Het |
|
Other mutations in Atp6v0d2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01593:Atp6v0d2
|
APN |
4 |
19,881,436 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01759:Atp6v0d2
|
APN |
4 |
19,878,335 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02006:Atp6v0d2
|
APN |
4 |
19,878,325 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02515:Atp6v0d2
|
APN |
4 |
19,880,063 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02796:Atp6v0d2
|
UTSW |
4 |
19,887,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R0083:Atp6v0d2
|
UTSW |
4 |
19,880,001 (GRCm39) |
splice site |
probably benign |
|
R0133:Atp6v0d2
|
UTSW |
4 |
19,910,578 (GRCm39) |
splice site |
probably benign |
|
R0371:Atp6v0d2
|
UTSW |
4 |
19,880,033 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0845:Atp6v0d2
|
UTSW |
4 |
19,880,055 (GRCm39) |
missense |
probably benign |
0.02 |
R1279:Atp6v0d2
|
UTSW |
4 |
19,878,298 (GRCm39) |
missense |
probably benign |
0.02 |
R1541:Atp6v0d2
|
UTSW |
4 |
19,910,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R1802:Atp6v0d2
|
UTSW |
4 |
19,922,366 (GRCm39) |
critical splice donor site |
probably null |
|
R3417:Atp6v0d2
|
UTSW |
4 |
19,888,829 (GRCm39) |
unclassified |
probably benign |
|
R3833:Atp6v0d2
|
UTSW |
4 |
19,922,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R3884:Atp6v0d2
|
UTSW |
4 |
19,910,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R5158:Atp6v0d2
|
UTSW |
4 |
19,878,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R6284:Atp6v0d2
|
UTSW |
4 |
19,922,605 (GRCm39) |
splice site |
probably null |
|
R7290:Atp6v0d2
|
UTSW |
4 |
19,880,060 (GRCm39) |
missense |
probably benign |
0.44 |
R7341:Atp6v0d2
|
UTSW |
4 |
19,887,330 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7832:Atp6v0d2
|
UTSW |
4 |
19,922,400 (GRCm39) |
missense |
probably benign |
0.18 |
R8231:Atp6v0d2
|
UTSW |
4 |
19,881,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R8757:Atp6v0d2
|
UTSW |
4 |
19,910,649 (GRCm39) |
missense |
probably benign |
|
R8759:Atp6v0d2
|
UTSW |
4 |
19,910,649 (GRCm39) |
missense |
probably benign |
|
R8811:Atp6v0d2
|
UTSW |
4 |
19,922,397 (GRCm39) |
missense |
probably benign |
0.05 |
R9227:Atp6v0d2
|
UTSW |
4 |
19,878,374 (GRCm39) |
missense |
probably benign |
|
R9334:Atp6v0d2
|
UTSW |
4 |
19,890,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R9378:Atp6v0d2
|
UTSW |
4 |
19,922,377 (GRCm39) |
missense |
probably benign |
0.02 |
R9716:Atp6v0d2
|
UTSW |
4 |
19,890,834 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |