Mutagenetix > Incidental Mutation

Incidental Mutation 'R5034:Vps18'

389425

Institutional Source

Beutler Lab

Gene Symbol

Vps18

Ensembl Gene

ENSMUSG00000034216

Gene Name

VPS18 CORVET/HOPS core subunit

Synonyms

9930024E13Rik

MMRRC Submission

042625-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119119221-119128934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119123787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 238 (D238V)

Ref Sequence

ENSEMBL: ENSMUSP00000036915 (fasta)

Gene Model

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

AlphaFold

Q8R307

Predicted Effect

probably benign
Transcript: ENSMUST00000037280
AA Change: D238V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000036915
Gene: ENSMUSG00000034216
AA Change: D238V

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,136,090 (GRCm39)	S482T	probably benign	Het
Adam6b	G	T	12: 113,454,547 (GRCm39)	G455C	probably damaging	Het
Ahsg	C	A	16: 22,717,650 (GRCm39)	P237Q	probably damaging	Het
Asxl2	A	G	12: 3,552,193 (GRCm39)	S1312G	probably damaging	Het
Brinp3	C	T	1: 146,603,458 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,564,649 (GRCm39)	H1677R	probably damaging	Het
Cops7a	A	G	6: 124,939,583 (GRCm39)		probably null	Het
Csmd2	G	A	4: 127,952,901 (GRCm39)	A117T	probably damaging	Het
Csmd3	T	C	15: 47,492,683 (GRCm39)	R3153G	possibly damaging	Het
Dctn4	A	G	18: 60,685,956 (GRCm39)	N342D	probably benign	Het
Dennd5a	A	T	7: 109,499,004 (GRCm39)	I953N	probably damaging	Het
Dmwd	T	C	7: 18,814,219 (GRCm39)	S290P	probably damaging	Het
Dsc1	T	A	18: 20,228,084 (GRCm39)	Y424F	possibly damaging	Het
Far2	C	A	6: 148,074,939 (GRCm39)	L391M	probably benign	Het
Foxd3	G	A	4: 99,545,327 (GRCm39)	G156S	probably damaging	Het
Galk2	A	T	2: 125,771,495 (GRCm39)	E173D	probably benign	Het
Hcar1	T	C	5: 124,017,732 (GRCm39)		probably benign	Het
Hsd17b11	C	T	5: 104,166,087 (GRCm39)	V91M	possibly damaging	Het
Ighv1-77	C	T	12: 115,825,494 (GRCm39)	C115Y	probably damaging	Het
Ighv9-2	A	G	12: 114,073,025 (GRCm39)	F9S	probably damaging	Het
Kdm6b	A	G	11: 69,292,736 (GRCm39)		probably benign	Het
Kif21a	T	A	15: 90,852,561 (GRCm39)	R890W	probably null	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Magel2	A	T	7: 62,029,616 (GRCm39)	H840L	unknown	Het
Mrgpra4	A	G	7: 47,631,317 (GRCm39)	F95L	probably benign	Het
Myo7b	A	G	18: 32,104,440 (GRCm39)	L1436P	probably damaging	Het
Nf1	C	T	11: 79,334,976 (GRCm39)	P943S	probably damaging	Het
Obscn	T	A	11: 58,952,502 (GRCm39)	R4153*	probably null	Het
Oosp2	T	C	19: 11,628,899 (GRCm39)	I67M	probably damaging	Het
Or5m13b	C	A	2: 85,753,891 (GRCm39)	S93Y	probably damaging	Het
Pcdh9	T	A	14: 93,564,285 (GRCm39)	D1023V	probably benign	Het
Pcdhb14	T	C	18: 37,581,859 (GRCm39)	S322P	probably damaging	Het
Pde2a	A	G	7: 101,151,231 (GRCm39)	D285G	probably benign	Het
Pde5a	G	C	3: 122,646,235 (GRCm39)	G809R	probably damaging	Het
Pde5a	G	T	3: 122,646,236 (GRCm39)	G809V	probably damaging	Het
Pphln1	T	C	15: 93,350,010 (GRCm39)	V120A	probably benign	Het
Rictor	T	C	15: 6,797,576 (GRCm39)	S311P	probably damaging	Het
Rilpl1	T	C	5: 124,631,887 (GRCm39)	D153G	probably damaging	Het
Rmdn3	G	T	2: 118,978,058 (GRCm39)	A181E	probably damaging	Het
Rnf213	G	A	11: 119,301,633 (GRCm39)	V369M	probably damaging	Het
Scyl1	T	A	19: 5,810,022 (GRCm39)	R601S	probably benign	Het
Sdcbp	G	A	4: 6,393,118 (GRCm39)		probably null	Het
Septin8	A	G	11: 53,425,265 (GRCm39)	T53A	probably damaging	Het
Sfpq	A	G	4: 126,917,462 (GRCm39)		probably benign	Het
Slc35b3	A	G	13: 39,127,134 (GRCm39)	Y163H	probably damaging	Het
Sra1	A	G	18: 36,812,048 (GRCm39)		probably null	Het
Sspo	A	T	6: 48,457,757 (GRCm39)	N3231Y	possibly damaging	Het
Tcf3	A	G	10: 80,253,377 (GRCm39)	V218A	possibly damaging	Het
Tgm3	T	C	2: 129,879,404 (GRCm39)	V332A	possibly damaging	Het
Tmprss11f	C	T	5: 86,739,243 (GRCm39)		probably benign	Het
Trbv4	A	G	6: 41,036,624 (GRCm39)	T50A	probably benign	Het
Trdv2-2	C	A	14: 54,198,882 (GRCm39)	Y57*	probably null	Het
Trim50	T	C	5: 135,396,147 (GRCm39)	V365A	possibly damaging	Het
Ubash3b	T	C	9: 40,941,036 (GRCm39)	Q245R	probably benign	Het
Ulk3	T	A	9: 57,501,047 (GRCm39)	V338E	possibly damaging	Het
Usf3	A	C	16: 44,036,762 (GRCm39)	K414T	probably damaging	Het
Usp48	C	T	4: 137,334,068 (GRCm39)	R161*	probably null	Het
Vps35l	T	C	7: 118,390,611 (GRCm39)	V368A	probably damaging	Het
Zfp354c	T	C	11: 50,705,866 (GRCm39)	E403G	probably benign	Het
Zscan18	A	G	7: 12,508,072 (GRCm39)	V476A	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
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
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'- GCTCAAGGACAGATCTTTGAAGC -3'
(R):5'- TCCAGTGAGCCATACAGCAC -3'

Sequencing Primer
(F):5'- TTTGAAGCAGAGCTCTCAGC -3'
(R):5'- GTGAGCCATACAGCACTCCATC -3'

Posted On

2016-06-06