Mutagenetix > Incidental Mutation

Incidental Mutation 'R1493:Vps18'

165530

Institutional Source

Beutler Lab

Gene Symbol

Vps18

Ensembl Gene

ENSMUSG00000034216

Gene Name

VPS18 CORVET/HOPS core subunit

Synonyms

9930024E13Rik

MMRRC Submission

039544-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1493 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119119221-119128934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119127613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 812 (Y812C)

Ref Sequence

ENSEMBL: ENSMUSP00000036915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037280]

AlphaFold

Q8R307

Predicted Effect

probably damaging
Transcript: ENSMUST00000037280
AA Change: Y812C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036915
Gene: ENSMUSG00000034216
AA Change: Y812C

Domain	Start	End	E-Value	Type
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

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,767,544 (GRCm39)	S14P	probably damaging	Het
Abca15	A	T	7: 119,981,513 (GRCm39)	D989V	probably benign	Het
Abcg8	T	C	17: 85,004,107 (GRCm39)	S472P	probably damaging	Het
Ablim2	T	C	5: 35,966,605 (GRCm39)	F178S	probably damaging	Het
Adprm	A	G	11: 66,932,702 (GRCm39)	V69A	possibly damaging	Het
Ankrd27	C	T	7: 35,307,790 (GRCm39)	S343L	probably benign	Het
Arfgef3	A	G	10: 18,506,627 (GRCm39)	S833P	probably damaging	Het
Arhgap42	T	G	9: 9,030,798 (GRCm39)	E339D	probably benign	Het
Axdnd1	T	A	1: 156,174,271 (GRCm39)	M799L	probably benign	Het
Cars2	A	T	8: 11,567,817 (GRCm39)		probably null	Het
Cd7	T	C	11: 120,928,967 (GRCm39)	T95A	probably damaging	Het
Cep290	A	T	10: 100,398,043 (GRCm39)	T2200S	probably benign	Het
Cep44	A	G	8: 56,985,870 (GRCm39)	S299P	probably damaging	Het
Cfap58	C	T	19: 47,976,943 (GRCm39)	H731Y	probably damaging	Het
Ehbp1	T	A	11: 21,956,866 (GRCm39)	E1204V	probably damaging	Het
Fgd5	A	G	6: 91,964,612 (GRCm39)	K124E	probably benign	Het
Folh1	T	C	7: 86,410,938 (GRCm39)	D268G	probably damaging	Het
Gm4559	A	T	7: 141,828,050 (GRCm39)	C17*	probably null	Het
Helz	A	G	11: 107,504,751 (GRCm39)	I413V	probably benign	Het
Hexd	A	G	11: 121,112,093 (GRCm39)	I438V	probably benign	Het
Hrh1	G	A	6: 114,457,838 (GRCm39)	G373D	probably damaging	Het
Hs3st5	G	A	10: 36,708,870 (GRCm39)	G135D	probably damaging	Het
Iqcf6	T	C	9: 106,504,641 (GRCm39)	Y102H	probably benign	Het
Kmt2a	A	T	9: 44,758,202 (GRCm39)	S1124R	probably damaging	Het
Map3k5	A	G	10: 19,904,859 (GRCm39)	D387G	probably damaging	Het
Morc2a	A	G	11: 3,628,557 (GRCm39)	N337D	probably benign	Het
Musk	C	T	4: 58,354,003 (GRCm39)	A352V	probably benign	Het
Myef2l	A	G	3: 10,153,944 (GRCm39)	K238E	probably damaging	Het
Nans	G	A	4: 46,500,761 (GRCm39)	E218K	probably damaging	Het
Niban1	T	A	1: 151,581,841 (GRCm39)	V479D	probably damaging	Het
Ninl	T	G	2: 150,822,015 (GRCm39)	D29A	probably damaging	Het
Nod1	A	G	6: 54,921,041 (GRCm39)	F426L	probably damaging	Het
Notch4	T	A	17: 34,786,656 (GRCm39)	C265*	probably null	Het
Nsd3	A	G	8: 26,203,407 (GRCm39)	D1307G	probably benign	Het
Or51h1	T	C	7: 102,308,220 (GRCm39)	L64P	probably damaging	Het
Or52e18	T	A	7: 104,609,709 (GRCm39)	T77S	probably damaging	Het
Orai3	G	A	7: 127,373,077 (GRCm39)	V193M	possibly damaging	Het
Prkag1	T	C	15: 98,711,551 (GRCm39)	Y271C	probably benign	Het
Rfc4	T	C	16: 22,936,758 (GRCm39)	I116V	probably damaging	Het
Ric1	T	C	19: 29,557,249 (GRCm39)	Y445H	probably benign	Het
Rnmt	G	A	18: 68,446,778 (GRCm39)	D268N	probably damaging	Het
Rsph1	C	T	17: 31,484,873 (GRCm39)	G139D	probably damaging	Het
Sez6l2	C	A	7: 126,560,984 (GRCm39)	P483Q	probably damaging	Het
Sgo2b	A	G	8: 64,379,889 (GRCm39)	L981P	probably damaging	Het
Shmt2	A	G	10: 127,354,812 (GRCm39)		probably null	Het
Sorbs3	T	C	14: 70,430,076 (GRCm39)	T353A	possibly damaging	Het
Stk25	T	C	1: 93,553,322 (GRCm39)	T260A	probably benign	Het
Tasor	A	G	14: 27,171,926 (GRCm39)	S425G	probably damaging	Het
Thap12	A	G	7: 98,364,645 (GRCm39)	H271R	probably benign	Het
Tmprss13	A	G	9: 45,247,405 (GRCm39)	T256A	probably benign	Het
Tpo	A	T	12: 30,181,808 (GRCm39)	I29N	possibly damaging	Het
Trpc2	A	T	7: 101,739,783 (GRCm39)	N569I	probably damaging	Het
Unc13c	T	C	9: 73,546,350 (GRCm39)	T1607A	probably benign	Het
Vldlr	A	G	19: 27,218,691 (GRCm39)	N514S	probably benign	Het
Zfp692	A	T	11: 58,204,866 (GRCm39)	I409F	probably damaging	Het
Zfp735	G	A	11: 73,601,305 (GRCm39)	C83Y	possibly damaging	Het
Zic1	A	G	9: 91,246,809 (GRCm39)	S88P	probably damaging	Het

Other mutations in Vps18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGAAACTATGGCTCAAGATCGCCC -3'
(R):5'- TCGATAGACCGAATCATCAGCTCCC -3'

Sequencing Primer
(F):5'- TCAAGATCGCCCGGCAC -3'
(R):5'- GCAGTTCCTCAAGTCTGGC -3'

Posted On

2014-03-28