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) question?
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

DomainStartEndE-ValueType
Pfam:vATP-synt_AC39 16 346 6.2e-113 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000029900
SMART Domains Protein: ENSMUSP00000029900
Gene: ENSMUSG00000028238

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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