Incidental Mutation 'IGL02332:Vps18'
ID 288724
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 # IGL02332
Quality Score
Status
Chromosome 2
Chromosomal Location 119119221-119128934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119124291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 406 (N406S)
Ref Sequence ENSEMBL: ENSMUSP00000036915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037280]
AlphaFold Q8R307
Predicted Effect probably benign
Transcript: ENSMUST00000037280
AA Change: N406S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000036915
Gene: ENSMUSG00000034216
AA Change: N406S

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B24Rik A G 3: 48,563,323 (GRCm39) noncoding transcript Het
Abca13 A T 11: 9,241,482 (GRCm39) Y1115F probably damaging Het
Adam29 T A 8: 56,324,775 (GRCm39) I560F probably damaging Het
Bivm T C 1: 44,167,880 (GRCm39) probably benign Het
Brinp1 C A 4: 68,823,121 (GRCm39) R24L probably benign Het
Cnga1 A G 5: 72,761,829 (GRCm39) Y562H probably damaging Het
Cr2 C A 1: 194,842,630 (GRCm39) Q256H probably benign Het
Dhcr7 A T 7: 143,396,865 (GRCm39) N119I probably damaging Het
Dio1 A T 4: 107,150,978 (GRCm39) Y169N probably damaging Het
Dmbt1 C T 7: 130,668,343 (GRCm39) probably benign Het
Eogt T G 6: 97,102,566 (GRCm39) H249P probably damaging Het
Ermard A C 17: 15,210,807 (GRCm39) probably null Het
Exoc4 T C 6: 33,226,175 (GRCm39) probably null Het
Fxr2 G T 11: 69,540,664 (GRCm39) probably null Het
Glyr1 G T 16: 4,836,817 (GRCm39) T443N probably damaging Het
Gm14137 T G 2: 119,005,807 (GRCm39) L122R probably damaging Het
Gm4845 C A 1: 141,184,335 (GRCm39) noncoding transcript Het
Gm8258 A G 5: 104,923,768 (GRCm39) noncoding transcript Het
Gmps G A 3: 63,897,990 (GRCm39) R258H probably benign Het
Itga6 T G 2: 71,668,717 (GRCm39) L552R possibly damaging Het
Itgam T A 7: 127,684,846 (GRCm39) probably null Het
Itgb5 G T 16: 33,740,500 (GRCm39) E224* probably null Het
Itih4 C A 14: 30,609,817 (GRCm39) A49D probably damaging Het
Itpr2 A T 6: 146,328,040 (GRCm39) N64K probably damaging Het
Moap1 T C 12: 102,709,066 (GRCm39) Y161C probably benign Het
Mst1r G T 9: 107,785,025 (GRCm39) G228* probably null Het
Myo1g T C 11: 6,470,766 (GRCm39) D30G possibly damaging Het
Ndn T A 7: 61,998,573 (GRCm39) C140S probably damaging Het
Nek5 G T 8: 22,585,277 (GRCm39) Q367K probably benign Het
Nrdc A T 4: 108,858,185 (GRCm39) R52S probably damaging Het
Nup133 A T 8: 124,634,571 (GRCm39) L1007Q probably damaging Het
Or51k2 T C 7: 103,596,127 (GRCm39) M118T probably damaging Het
Or5be3 T C 2: 86,864,556 (GRCm39) D3G probably benign Het
Or5d47 A T 2: 87,804,409 (GRCm39) L200Q probably damaging Het
P2rx2 T C 5: 110,489,671 (GRCm39) S116G probably benign Het
Pcdhb13 G A 18: 37,576,635 (GRCm39) V338M probably benign Het
Pdcl2 A T 5: 76,466,982 (GRCm39) Y70* probably null Het
Ppm1e T C 11: 87,122,568 (GRCm39) H463R probably benign Het
Ppm1f T A 16: 16,731,951 (GRCm39) C134S possibly damaging Het
Ppp2r3d A G 9: 101,057,602 (GRCm39) F180L possibly damaging Het
Pxn A G 5: 115,682,985 (GRCm39) S96G probably benign Het
Rasa4 G T 5: 136,124,453 (GRCm39) Q167H probably benign Het
Rfx8 T C 1: 39,757,640 (GRCm39) I43V possibly damaging Het
Sez6 C T 11: 77,845,568 (GRCm39) probably benign Het
Slc39a6 A T 18: 24,722,880 (GRCm39) D473E probably benign Het
Spocd1 A G 4: 129,842,885 (GRCm39) D68G probably damaging Het
Syt13 T C 2: 92,771,149 (GRCm39) F79L probably benign Het
Tas2r103 A T 6: 133,013,475 (GRCm39) M197K probably benign Het
Tbrg4 A G 11: 6,568,492 (GRCm39) V429A probably damaging Het
Tuft1 A C 3: 94,523,075 (GRCm39) probably null Het
Uqcrc1 A G 9: 108,776,937 (GRCm39) T80A probably damaging Het
Xrn2 T A 2: 146,868,510 (GRCm39) W188R probably damaging Het
Zzef1 T G 11: 72,807,335 (GRCm39) S2738A probably benign Het
Other mutations in Vps18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Vps18 APN 2 119,127,672 (GRCm39) missense probably benign 0.03
IGL02311:Vps18 APN 2 119,120,732 (GRCm39) missense probably benign 0.05
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