Mutagenetix > Incidental Mutation

Incidental Mutation 'R6150:Vps18'

489167

Institutional Source

Beutler Lab

Gene Symbol

Vps18

Ensembl Gene

ENSMUSG00000034216

Gene Name

VPS18 CORVET/HOPS core subunit

Synonyms

9930024E13Rik

MMRRC Submission

044297-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6150 (G1)

Quality Score

154.008

Status

Validated

Chromosome

Chromosomal Location

119119221-119128934 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 119128073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 965 (Y965*)

Ref Sequence

ENSEMBL: ENSMUSP00000036915 (fasta)

Gene Model

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

AlphaFold

Q8R307

Predicted Effect

probably null
Transcript: ENSMUST00000037280
AA Change: Y965*

SMART Domains

Protein: ENSMUSP00000036915
Gene: ENSMUSG00000034216
AA Change: Y965*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (56/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,104,334 (GRCm39)	T74A	probably benign	Het
Arhgef1	T	C	7: 24,618,782 (GRCm39)		probably null	Het
Art1	C	G	7: 101,756,294 (GRCm39)	R162G	probably benign	Het
Boll	T	A	1: 55,309,812 (GRCm39)	I280F	possibly damaging	Het
Cep44	T	C	8: 56,992,840 (GRCm39)	E258G	probably benign	Het
Cutc	T	A	19: 43,748,328 (GRCm39)	V75E	probably damaging	Het
Dtx1	T	C	5: 120,819,428 (GRCm39)	K590R	probably damaging	Het
Eps8	A	T	6: 137,494,172 (GRCm39)	D295E	probably damaging	Het
Erc2	C	A	14: 27,863,248 (GRCm39)	S491Y	probably damaging	Het
F2rl3	G	T	8: 73,489,366 (GRCm39)	A198S	probably benign	Het
Fam83b	G	A	9: 76,399,639 (GRCm39)	T488M	probably damaging	Het
Fitm2	A	G	2: 163,311,994 (GRCm39)	L73P	probably damaging	Het
Fxyd1	T	C	7: 30,754,228 (GRCm39)		probably null	Het
Gm17186	T	C	14: 51,918,183 (GRCm39)		noncoding transcript	Het
Hivep3	C	A	4: 119,591,274 (GRCm39)	S94*	probably null	Het
Ifna1	T	A	4: 88,768,349 (GRCm39)	M9K	probably null	Het
Igsf11	G	A	16: 38,843,711 (GRCm39)	E275K	probably damaging	Het
Itga1	G	A	13: 115,104,769 (GRCm39)	L1086F	probably benign	Het
Itgav	T	C	2: 83,606,780 (GRCm39)	S374P	probably benign	Het
Jmy	A	T	13: 93,577,641 (GRCm39)	N842K	probably benign	Het
Kcnh6	G	A	11: 105,911,557 (GRCm39)	V595M	possibly damaging	Het
Kif13b	T	A	14: 64,989,088 (GRCm39)	I823N	probably damaging	Het
Kif26b	T	C	1: 178,743,111 (GRCm39)	L1069P	probably damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Kmt2b	G	T	7: 30,287,902 (GRCm39)		probably benign	Het
Map10	G	A	8: 126,398,328 (GRCm39)	D574N	probably damaging	Het
Mau2	A	T	8: 70,472,487 (GRCm39)	H565Q	probably benign	Het
Myb	A	G	10: 21,017,668 (GRCm39)	I641T	probably damaging	Het
Naaladl2	C	A	3: 24,606,214 (GRCm39)	G15V	probably null	Het
Or10k2	G	A	8: 84,267,782 (GRCm39)	C3Y	probably benign	Het
Or3a4	A	C	11: 73,945,145 (GRCm39)	S147A	probably benign	Het
Or6c210	A	G	10: 129,495,803 (GRCm39)	I43V	probably benign	Het
Or7d11	A	T	9: 19,966,170 (GRCm39)	N78K	probably benign	Het
Otog	A	G	7: 45,913,483 (GRCm39)	E772G	possibly damaging	Het
Pla2g4d	T	C	2: 120,100,045 (GRCm39)	D674G	probably damaging	Het
Pmpcb	A	G	5: 21,942,137 (GRCm39)		probably null	Het
Pomk	A	G	8: 26,473,284 (GRCm39)	V223A	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Serpina1e	A	G	12: 103,917,066 (GRCm39)	V201A	probably benign	Het
Six5	C	T	7: 18,831,446 (GRCm39)	P646S	probably benign	Het
Slc17a9	A	G	2: 180,379,421 (GRCm39)	I298V	probably benign	Het
Slc37a2	G	T	9: 37,149,643 (GRCm39)	T188K	probably damaging	Het
Slc6a11	T	A	6: 114,222,579 (GRCm39)	F525I	probably benign	Het
Slit2	A	T	5: 48,461,516 (GRCm39)	D1504V	probably damaging	Het
Srcap	T	A	7: 127,134,000 (GRCm39)	M907K	probably damaging	Het
Sspo	T	C	6: 48,463,313 (GRCm39)	L3746P	probably benign	Het
Supv3l1	A	T	10: 62,271,501 (GRCm39)	N376K	possibly damaging	Het
Tekt3	A	T	11: 62,985,483 (GRCm39)	T430S	possibly damaging	Het
Tex2	A	T	11: 106,457,906 (GRCm39)	V508D	probably benign	Het
Tmem184c	G	T	8: 78,323,069 (GRCm39)	Q598K	probably benign	Het
Ube2v1	G	A	2: 167,459,874 (GRCm39)	R42*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vangl1	T	C	3: 102,091,835 (GRCm39)	T84A	probably damaging	Het
Vgll3	T	A	16: 65,625,064 (GRCm39)		probably null	Het
Vmn1r61	T	A	7: 5,613,678 (GRCm39)	H212L	probably benign	Het
Vmn2r114	A	G	17: 23,510,269 (GRCm39)	V737A	probably benign	Het
Vmn2r35	A	T	7: 7,789,555 (GRCm39)	D727E	probably damaging	Het
Zfp521	A	T	18: 13,977,135 (GRCm39)	C1093S	probably damaging	Het
Zfp971	A	C	2: 177,675,247 (GRCm39)	H282P	probably benign	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
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
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'- CCAGACTTGAGGAACTGCAG -3'
(R):5'- CGTTCGCACCTGAAAACCTC -3'

Sequencing Primer
(F):5'- CTTGAGGAACTGCAGCGCAAG -3'
(R):5'- TGAAAACCTCCCGGCTGAAG -3'

Posted On

2017-10-10