Incidental Mutation 'IGL03334:Vps18'
ID 416978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps18
Ensembl Gene ENSMUSG00000034216
Gene Name VPS18 CORVET/HOPS core subunit
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03334
Quality Score
Chromosome 2
Chromosomal Location 119288740-119298453 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119297482 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 929 (R929W)
Ref Sequence ENSEMBL: ENSMUSP00000036915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037280]
AlphaFold Q8R307
Predicted Effect probably damaging
Transcript: ENSMUST00000037280
AA Change: R929W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036915
Gene: ENSMUSG00000034216
AA Change: R929W

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,947,475 (GRCm38) F762L probably benign Het
A430078G23Rik A T 8: 3,388,023 (GRCm38) I286F probably benign Het
Angpt1 T A 15: 42,496,412 (GRCm38) E208V possibly damaging Het
Arhgef5 T C 6: 43,274,000 (GRCm38) S562P possibly damaging Het
Asb6 T C 2: 30,824,484 (GRCm38) T205A probably benign Het
B4galnt4 G A 7: 141,067,441 (GRCm38) probably null Het
Clca4a A T 3: 144,953,866 (GRCm38) M743K probably benign Het
Col14a1 T C 15: 55,448,821 (GRCm38) probably benign Het
Col27a1 A T 4: 63,314,722 (GRCm38) Y359F probably damaging Het
Dhcr7 T A 7: 143,840,497 (GRCm38) V125D possibly damaging Het
Ercc3 T C 18: 32,240,837 (GRCm38) probably null Het
Fnbp1l A G 3: 122,557,949 (GRCm38) V315A probably benign Het
Gm17174 T A 14: 51,591,963 (GRCm38) R48* probably null Het
Golga4 C T 9: 118,537,233 (GRCm38) probably benign Het
Grin1 C T 2: 25,298,393 (GRCm38) probably null Het
Ifi203 T A 1: 173,937,835 (GRCm38) K58* probably null Het
Ighv2-9-1 A G 12: 113,769,923 (GRCm38) S93P probably benign Het
Il27ra A G 8: 84,031,122 (GRCm38) V594A probably benign Het
Krr1 T G 10: 111,980,054 (GRCm38) S275R probably benign Het
Lars T C 18: 42,221,506 (GRCm38) D792G probably benign Het
Myo1f G A 17: 33,598,194 (GRCm38) R737H probably damaging Het
Nebl T A 2: 17,413,711 (GRCm38) H292L probably damaging Het
Nell1 C A 7: 50,062,611 (GRCm38) probably null Het
Nktr T C 9: 121,748,176 (GRCm38) F412L probably benign Het
Nlrp3 T A 11: 59,549,016 (GRCm38) I473N probably damaging Het
Olfr338 T C 2: 36,377,051 (GRCm38) Y92H possibly damaging Het
Phf3 A G 1: 30,805,729 (GRCm38) V1383A probably damaging Het
Prss48 T C 3: 85,997,318 (GRCm38) E191G probably damaging Het
Psg25 T A 7: 18,529,774 (GRCm38) L41F probably benign Het
Sema3b A G 9: 107,604,077 (GRCm38) L78P probably damaging Het
Spen G T 4: 141,469,969 (GRCm38) N3496K probably damaging Het
Tbk1 A T 10: 121,584,199 (GRCm38) H28Q possibly damaging Het
Trpv3 T A 11: 73,281,665 (GRCm38) probably benign Het
Vmn1r218 T C 13: 23,136,618 (GRCm38) L45P probably damaging Het
Vmn2r35 T A 7: 7,786,494 (GRCm38) Y748F probably damaging Het
Xpnpep1 T C 19: 53,010,146 (GRCm38) K224E probably damaging Het
Zbed5 T A 5: 129,902,355 (GRCm38) F382I possibly damaging Het
Other mutations in Vps18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Vps18 APN 2 119,297,191 (GRCm38) missense probably benign 0.03
IGL02311:Vps18 APN 2 119,290,251 (GRCm38) missense probably benign 0.05
IGL02332:Vps18 APN 2 119,293,810 (GRCm38) missense probably benign 0.04
IGL03089:Vps18 APN 2 119,293,177 (GRCm38) missense probably benign 0.01
IGL03114:Vps18 APN 2 119,293,651 (GRCm38) missense possibly damaging 0.55
F5770:Vps18 UTSW 2 119,297,228 (GRCm38) missense probably benign 0.22
R0311:Vps18 UTSW 2 119,297,365 (GRCm38) missense probably benign 0.05
R0346:Vps18 UTSW 2 119,297,164 (GRCm38) missense probably damaging 1.00
R0373:Vps18 UTSW 2 119,293,905 (GRCm38) missense probably damaging 0.99
R0637:Vps18 UTSW 2 119,293,905 (GRCm38) missense probably damaging 0.99
R1493:Vps18 UTSW 2 119,297,132 (GRCm38) missense probably damaging 1.00
R1703:Vps18 UTSW 2 119,289,057 (GRCm38) missense probably benign 0.03
R1734:Vps18 UTSW 2 119,293,942 (GRCm38) missense probably benign 0.01
R4297:Vps18 UTSW 2 119,297,331 (GRCm38) nonsense probably null
R4633:Vps18 UTSW 2 119,293,276 (GRCm38) missense probably damaging 1.00
R4729:Vps18 UTSW 2 119,293,791 (GRCm38) missense probably damaging 1.00
R5034:Vps18 UTSW 2 119,293,306 (GRCm38) missense probably benign 0.00
R5162:Vps18 UTSW 2 119,292,942 (GRCm38) missense probably benign 0.19
R5320:Vps18 UTSW 2 119,297,377 (GRCm38) nonsense probably null
R5857:Vps18 UTSW 2 119,297,533 (GRCm38) missense probably damaging 1.00
R6105:Vps18 UTSW 2 119,289,062 (GRCm38) missense probably damaging 1.00
R6150:Vps18 UTSW 2 119,297,592 (GRCm38) nonsense probably null
R7934:Vps18 UTSW 2 119,293,641 (GRCm38) missense probably benign 0.11
R8018:Vps18 UTSW 2 119,294,011 (GRCm38) missense probably damaging 1.00
R8147:Vps18 UTSW 2 119,292,756 (GRCm38) missense probably benign 0.19
R8401:Vps18 UTSW 2 119,297,492 (GRCm38) missense probably damaging 0.96
R8525:Vps18 UTSW 2 119,290,230 (GRCm38) missense possibly damaging 0.68
R9044:Vps18 UTSW 2 119,297,553 (GRCm38) missense probably damaging 1.00
R9719:Vps18 UTSW 2 119,297,072 (GRCm38) missense probably damaging 1.00
RF002:Vps18 UTSW 2 119,297,390 (GRCm38) missense probably damaging 1.00
V7583:Vps18 UTSW 2 119,297,228 (GRCm38) missense probably benign 0.22
Posted On 2016-08-02