Incidental Mutation 'IGL02192:Vps16'
ID 283889
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps16
Ensembl Gene ENSMUSG00000027411
Gene Name VSP16 CORVET/HOPS core subunit
Synonyms 1810074M16Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # IGL02192
Quality Score
Status
Chromosome 2
Chromosomal Location 130266259-130286189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130282852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 467 (I467N)
Ref Sequence ENSEMBL: ENSMUSP00000028900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028900] [ENSMUST00000128994]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000028900
AA Change: I467N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028900
Gene: ENSMUSG00000027411
AA Change: I467N

DomainStartEndE-ValueType
Pfam:Vps16_N 4 420 1e-166 PFAM
low complexity region 452 462 N/A INTRINSIC
Pfam:Vps16_C 517 835 5.5e-150 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125973
Predicted Effect probably benign
Transcript: ENSMUST00000128994
SMART Domains Protein: ENSMUSP00000115899
Gene: ENSMUSG00000027411

DomainStartEndE-ValueType
Pfam:Vps16_N 4 212 3.2e-74 PFAM
Pfam:Vps16_N 205 316 1e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137084
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice with a homozygous point mutation in exon 3 display impaired motor function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,597,825 (GRCm39) M545K possibly damaging Het
Adamtsl1 A G 4: 86,146,253 (GRCm39) E303G probably damaging Het
Anxa13 A T 15: 58,220,628 (GRCm39) noncoding transcript Het
Ap2b1 C T 11: 83,237,592 (GRCm39) T552I possibly damaging Het
Cars1 T C 7: 143,125,325 (GRCm39) S388G probably damaging Het
Cdh18 A T 15: 23,460,402 (GRCm39) D544V probably damaging Het
Chat T C 14: 32,145,279 (GRCm39) R377G possibly damaging Het
Col14a1 A G 15: 55,225,798 (GRCm39) T154A unknown Het
Col9a1 C T 1: 24,261,068 (GRCm39) P311S probably damaging Het
Cpsf3 G T 12: 21,360,194 (GRCm39) probably benign Het
Cpsf3 G T 12: 21,360,197 (GRCm39) probably null Het
Dock8 T C 19: 25,055,569 (GRCm39) probably null Het
Eml6 A G 11: 29,755,743 (GRCm39) I837T probably benign Het
Epb41 T C 4: 131,657,028 (GRCm39) T792A probably damaging Het
Exph5 A T 9: 53,287,625 (GRCm39) R1569* probably null Het
F13b A T 1: 139,445,071 (GRCm39) T574S probably damaging Het
Fam184b G T 5: 45,695,062 (GRCm39) D727E probably benign Het
Fhip1a A G 3: 85,580,633 (GRCm39) L524P possibly damaging Het
Fhod3 T C 18: 25,189,415 (GRCm39) L619P probably damaging Het
Fsd1l A G 4: 53,647,754 (GRCm39) I66V probably benign Het
Fv1 A G 4: 147,954,712 (GRCm39) D426G possibly damaging Het
Gm3371 A T 14: 44,641,235 (GRCm39) probably benign Het
Hnf1a A T 5: 115,098,177 (GRCm39) S142T probably damaging Het
Itgb3 A G 11: 104,534,765 (GRCm39) I541V probably benign Het
Itgbl1 G T 14: 124,081,338 (GRCm39) C239F probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Larp1b G T 3: 40,921,929 (GRCm39) S116I probably benign Het
Lmtk3 A G 7: 45,443,933 (GRCm39) probably benign Het
Mapk10 T C 5: 103,137,513 (GRCm39) I235V probably damaging Het
Mctp1 C T 13: 76,879,887 (GRCm39) probably benign Het
Megf8 G A 7: 25,053,285 (GRCm39) D1819N probably damaging Het
Muc6 T C 7: 141,217,717 (GRCm39) T2254A possibly damaging Het
Nbr1 T A 11: 101,460,417 (GRCm39) S444T probably damaging Het
Ncor2 A T 5: 125,101,301 (GRCm39) D1956E probably damaging Het
Ndufaf5 T C 2: 140,030,663 (GRCm39) V183A probably benign Het
Nfasc G A 1: 132,498,219 (GRCm39) T1155M probably damaging Het
Nol12 A G 15: 78,821,374 (GRCm39) E78G probably damaging Het
Npy5r T A 8: 67,133,998 (GRCm39) H265L probably benign Het
Or10j2 T A 1: 173,098,417 (GRCm39) L225H probably damaging Het
Or8k16 G A 2: 85,520,472 (GRCm39) G233D possibly damaging Het
Pop1 A G 15: 34,529,217 (GRCm39) E749G probably benign Het
Ppil3 T C 1: 58,477,547 (GRCm39) I66V probably damaging Het
Prl4a1 C A 13: 28,202,554 (GRCm39) T43K possibly damaging Het
Prop1 A G 11: 50,844,113 (GRCm39) probably benign Het
Qrsl1 A T 10: 43,761,010 (GRCm39) I218N probably damaging Het
Rbm22 T A 18: 60,697,484 (GRCm39) M63K possibly damaging Het
Rictor T C 15: 6,815,895 (GRCm39) S1056P probably benign Het
Rps6kb2 T C 19: 4,207,587 (GRCm39) T388A probably damaging Het
Slc7a5 A G 8: 122,613,129 (GRCm39) probably benign Het
Sp100 A T 1: 85,635,722 (GRCm39) D509V probably damaging Het
Spata18 G T 5: 73,829,861 (GRCm39) probably null Het
Sspo C A 6: 48,436,502 (GRCm39) T1254K possibly damaging Het
Stk19 A G 17: 35,051,134 (GRCm39) probably benign Het
Taar8b T A 10: 23,967,262 (GRCm39) I311F probably damaging Het
Themis2 C A 4: 132,510,658 (GRCm39) probably null Het
Tll2 T C 19: 41,074,702 (GRCm39) Y937C possibly damaging Het
Trim34a T A 7: 103,896,939 (GRCm39) M1K probably null Het
Usp50 G A 2: 126,619,958 (GRCm39) T118I possibly damaging Het
Vps13d G A 4: 144,875,428 (GRCm39) S1693F probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Vps16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Vps16 APN 2 130,279,616 (GRCm39) missense probably benign 0.19
IGL01400:Vps16 APN 2 130,280,273 (GRCm39) missense possibly damaging 0.73
IGL01542:Vps16 APN 2 130,280,314 (GRCm39) missense probably damaging 0.97
IGL02011:Vps16 APN 2 130,283,399 (GRCm39) missense probably benign 0.04
IGL02220:Vps16 APN 2 130,283,573 (GRCm39) missense possibly damaging 0.85
IGL02587:Vps16 APN 2 130,281,636 (GRCm39) critical splice donor site probably null
R0427:Vps16 UTSW 2 130,280,770 (GRCm39) missense probably benign 0.00
R0507:Vps16 UTSW 2 130,279,632 (GRCm39) critical splice donor site probably null
R1550:Vps16 UTSW 2 130,282,260 (GRCm39) missense probably benign 0.09
R1789:Vps16 UTSW 2 130,285,520 (GRCm39) missense probably benign 0.42
R3895:Vps16 UTSW 2 130,280,596 (GRCm39) missense possibly damaging 0.96
R3981:Vps16 UTSW 2 130,284,514 (GRCm39) missense possibly damaging 0.77
R4092:Vps16 UTSW 2 130,281,832 (GRCm39) missense probably damaging 1.00
R4555:Vps16 UTSW 2 130,285,496 (GRCm39) missense probably damaging 1.00
R4569:Vps16 UTSW 2 130,284,124 (GRCm39) missense probably benign
R4803:Vps16 UTSW 2 130,280,030 (GRCm39) missense probably benign 0.27
R4835:Vps16 UTSW 2 130,280,220 (GRCm39) splice site probably benign
R5022:Vps16 UTSW 2 130,281,372 (GRCm39) missense probably benign 0.07
R5023:Vps16 UTSW 2 130,281,372 (GRCm39) missense probably benign 0.07
R5057:Vps16 UTSW 2 130,281,372 (GRCm39) missense probably benign 0.07
R5158:Vps16 UTSW 2 130,283,199 (GRCm39) missense probably damaging 1.00
R5177:Vps16 UTSW 2 130,285,288 (GRCm39) nonsense probably null
R5540:Vps16 UTSW 2 130,284,305 (GRCm39) missense probably benign 0.00
R5680:Vps16 UTSW 2 130,282,244 (GRCm39) missense possibly damaging 0.64
R5689:Vps16 UTSW 2 130,281,011 (GRCm39) nonsense probably null
R5690:Vps16 UTSW 2 130,281,011 (GRCm39) nonsense probably null
R5926:Vps16 UTSW 2 130,285,476 (GRCm39) missense probably damaging 0.97
R5992:Vps16 UTSW 2 130,266,369 (GRCm39) critical splice donor site probably null
R6135:Vps16 UTSW 2 130,280,573 (GRCm39) missense possibly damaging 0.57
R6370:Vps16 UTSW 2 130,285,304 (GRCm39) missense probably damaging 1.00
R6898:Vps16 UTSW 2 130,279,601 (GRCm39) missense possibly damaging 0.74
R7378:Vps16 UTSW 2 130,280,099 (GRCm39) missense probably damaging 1.00
R7487:Vps16 UTSW 2 130,280,977 (GRCm39) nonsense probably null
R7641:Vps16 UTSW 2 130,282,448 (GRCm39) missense probably benign 0.28
R7720:Vps16 UTSW 2 130,283,623 (GRCm39) nonsense probably null
R8246:Vps16 UTSW 2 130,280,793 (GRCm39) missense probably damaging 1.00
R8363:Vps16 UTSW 2 130,284,161 (GRCm39) missense probably benign 0.08
R9092:Vps16 UTSW 2 130,281,593 (GRCm39) missense probably damaging 0.99
R9128:Vps16 UTSW 2 130,266,319 (GRCm39) missense possibly damaging 0.51
R9352:Vps16 UTSW 2 130,283,823 (GRCm39) critical splice donor site probably null
R9406:Vps16 UTSW 2 130,283,425 (GRCm39) critical splice donor site probably null
R9508:Vps16 UTSW 2 130,284,361 (GRCm39) missense possibly damaging 0.94
R9800:Vps16 UTSW 2 130,282,405 (GRCm39) missense probably benign 0.02
RF021:Vps16 UTSW 2 130,280,129 (GRCm39) missense probably benign 0.09
Z1177:Vps16 UTSW 2 130,283,346 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16