Incidental Mutation 'IGL02311:Vps18'
ID 287794
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps18
Ensembl Gene ENSMUSG00000034216
Gene Name VPS18 CORVET/HOPS core subunit
Synonyms 9930024E13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02311
Quality Score
Status
Chromosome 2
Chromosomal Location 119119221-119128934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119120732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 64 (C64R)
Ref Sequence ENSEMBL: ENSMUSP00000036915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037280]
AlphaFold Q8R307
Predicted Effect probably benign
Transcript: ENSMUST00000037280
AA Change: C64R

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000036915
Gene: ENSMUSG00000034216
AA Change: C64R

DomainStartEndE-ValueType
Pfam:Pep3_Vps18 291 435 2.4e-41 PFAM
low complexity region 486 500 N/A INTRINSIC
Pfam:Clathrin 619 771 5.9e-11 PFAM
coiled coil region 803 845 N/A INTRINSIC
Blast:RING 853 947 3e-47 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139367
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151500
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 Vps18 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele exhibit preweaning lethality. Mice homozygous for a conditional allele activated in the nervous system exhibit impaired neuron migration and neurodegeneration associated with increased apoptosis and impaired autophagy and endocytosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C A 5: 25,202,705 (GRCm39) probably benign Het
Adam21 T G 12: 81,607,666 (GRCm39) D32A probably benign Het
Asns A G 6: 7,676,233 (GRCm39) probably null Het
Bin3 A T 14: 70,361,666 (GRCm39) M45L probably benign Het
Cfap44 A T 16: 44,225,134 (GRCm39) probably benign Het
Cmya5 T C 13: 93,227,163 (GRCm39) T2642A probably benign Het
Dbndd2 T C 2: 164,330,622 (GRCm39) S92P possibly damaging Het
Dclre1b A C 3: 103,715,409 (GRCm39) F30V probably damaging Het
Dock6 T C 9: 21,755,624 (GRCm39) D200G probably damaging Het
Epb41l4b C A 4: 57,076,456 (GRCm39) R335L probably damaging Het
Fscn1 T C 5: 142,957,765 (GRCm39) V304A probably benign Het
Gm7008 G A 12: 40,273,385 (GRCm39) probably benign Het
Gm8237 A G 14: 5,864,425 (GRCm38) probably null Het
Ifih1 T C 2: 62,440,847 (GRCm39) T440A probably damaging Het
Mepe C T 5: 104,485,571 (GRCm39) S237F probably damaging Het
Nr4a2 T C 2: 57,001,743 (GRCm39) I174V probably benign Het
Or2ag2 A G 7: 106,485,101 (GRCm39) Y308H probably benign Het
Or8c11 C T 9: 38,289,194 (GRCm39) Q6* probably null Het
Orc1 G T 4: 108,457,171 (GRCm39) V404L probably benign Het
Pcsk5 G T 19: 17,410,784 (GRCm39) Y1869* probably null Het
Phf21b A G 15: 84,678,095 (GRCm39) probably null Het
Pigg A G 5: 108,484,246 (GRCm39) T631A probably benign Het
Plxnb1 A G 9: 108,930,190 (GRCm39) N349D probably benign Het
Scaf11 T C 15: 96,316,637 (GRCm39) S976G probably benign Het
Scn8a G T 15: 100,911,164 (GRCm39) M861I probably damaging Het
Stau1 T C 2: 166,792,239 (GRCm39) N433S probably damaging Het
Synrg A G 11: 83,910,630 (GRCm39) K854R probably benign Het
Tbata T A 10: 61,015,234 (GRCm39) C150* probably null Het
Tcn2 G A 11: 3,867,692 (GRCm39) P417S probably damaging Het
Tlr1 A T 5: 65,083,290 (GRCm39) L429* probably null Het
Tpr G T 1: 150,274,404 (GRCm39) D104Y probably damaging Het
Ubash3b T C 9: 40,958,333 (GRCm39) T16A probably benign Het
Uso1 T A 5: 92,335,635 (GRCm39) S548T probably benign Het
Vps13b T A 15: 35,709,660 (GRCm39) V1869E probably benign Het
Zic2 C A 14: 122,713,606 (GRCm39) N173K probably damaging Het
Other mutations in Vps18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Vps18 APN 2 119,127,672 (GRCm39) missense probably benign 0.03
IGL02332:Vps18 APN 2 119,124,291 (GRCm39) missense probably benign 0.04
IGL03089:Vps18 APN 2 119,123,658 (GRCm39) missense probably benign 0.01
IGL03114:Vps18 APN 2 119,124,132 (GRCm39) missense possibly damaging 0.55
IGL03334:Vps18 APN 2 119,127,963 (GRCm39) missense probably damaging 1.00
F5770:Vps18 UTSW 2 119,127,709 (GRCm39) missense probably benign 0.22
R0311:Vps18 UTSW 2 119,127,846 (GRCm39) missense probably benign 0.05
R0346:Vps18 UTSW 2 119,127,645 (GRCm39) missense probably damaging 1.00
R0373:Vps18 UTSW 2 119,124,386 (GRCm39) missense probably damaging 0.99
R0637:Vps18 UTSW 2 119,124,386 (GRCm39) missense probably damaging 0.99
R1493:Vps18 UTSW 2 119,127,613 (GRCm39) missense probably damaging 1.00
R1703:Vps18 UTSW 2 119,119,538 (GRCm39) missense probably benign 0.03
R1734:Vps18 UTSW 2 119,124,423 (GRCm39) missense probably benign 0.01
R4297:Vps18 UTSW 2 119,127,812 (GRCm39) nonsense probably null
R4633:Vps18 UTSW 2 119,123,757 (GRCm39) missense probably damaging 1.00
R4729:Vps18 UTSW 2 119,124,272 (GRCm39) missense probably damaging 1.00
R5034:Vps18 UTSW 2 119,123,787 (GRCm39) missense probably benign 0.00
R5162:Vps18 UTSW 2 119,123,423 (GRCm39) missense probably benign 0.19
R5320:Vps18 UTSW 2 119,127,858 (GRCm39) nonsense probably null
R5857:Vps18 UTSW 2 119,128,014 (GRCm39) missense probably damaging 1.00
R6105:Vps18 UTSW 2 119,119,543 (GRCm39) missense probably damaging 1.00
R6150:Vps18 UTSW 2 119,128,073 (GRCm39) nonsense probably null
R7934:Vps18 UTSW 2 119,124,122 (GRCm39) missense probably benign 0.11
R8018:Vps18 UTSW 2 119,124,492 (GRCm39) missense probably damaging 1.00
R8147:Vps18 UTSW 2 119,123,237 (GRCm39) missense probably benign 0.19
R8401:Vps18 UTSW 2 119,127,973 (GRCm39) missense probably damaging 0.96
R8525:Vps18 UTSW 2 119,120,711 (GRCm39) missense possibly damaging 0.68
R9044:Vps18 UTSW 2 119,128,034 (GRCm39) missense probably damaging 1.00
R9719:Vps18 UTSW 2 119,127,553 (GRCm39) missense probably damaging 1.00
RF002:Vps18 UTSW 2 119,127,871 (GRCm39) missense probably damaging 1.00
V7583:Vps18 UTSW 2 119,127,709 (GRCm39) missense probably benign 0.22
Posted On 2015-04-16