Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02192:Vps16'

283889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vps16

Ensembl Gene

ENSMUSG00000027411

Gene Name

VSP16 CORVET/HOPS core subunit

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL02192

Quality Score

Status

Chromosome

Chromosomal Location

130424339-130444269 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130440932 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 467 (I467N)

Ref Sequence

ENSEMBL: ENSMUSP00000028900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028900] [ENSMUST00000128994]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028900
AA Change: I467N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028900
Gene: ENSMUSG00000027411
AA Change: I467N

Domain	Start	End	E-Value	Type
Pfam:Vps16_N	4	420	1e-166	PFAM
low complexity region	452	462	N/A	INTRINSIC
Pfam:Vps16_C	517	835	5.5e-150	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125973

Predicted Effect

probably benign
Transcript: ENSMUST00000128994

SMART Domains

Protein: ENSMUSP00000115899
Gene: ENSMUSG00000027411

Domain	Start	End	E-Value	Type
Pfam:Vps16_N	4	212	3.2e-74	PFAM
Pfam:Vps16_N	205	316	1e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137084

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 Vps16 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice with a homozygous point mutation in exon 3 display impaired motor function. [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
Actn4	A	T	7: 28,898,400	M545K	possibly damaging	Het
Adamtsl1	A	G	4: 86,228,016	E303G	probably damaging	Het
Anxa13	A	T	15: 58,348,780		noncoding transcript	Het
Ap2b1	C	T	11: 83,346,766	T552I	possibly damaging	Het
Cars	T	C	7: 143,571,588	S388G	probably damaging	Het
Cdh18	A	T	15: 23,460,316	D544V	probably damaging	Het
Chat	T	C	14: 32,423,322	R377G	possibly damaging	Het
Col14a1	A	G	15: 55,362,402	T154A	unknown	Het
Col9a1	C	T	1: 24,221,987	P311S	probably damaging	Het
Cpsf3	G	T	12: 21,310,193		probably benign	Het
Cpsf3	G	T	12: 21,310,196		probably null	Het
Dock8	T	C	19: 25,078,205		probably null	Het
Eml6	A	G	11: 29,805,743	I837T	probably benign	Het
Epb41	T	C	4: 131,929,717	T792A	probably damaging	Het
Exph5	A	T	9: 53,376,325	R1569*	probably null	Het
F13b	A	T	1: 139,517,333	T574S	probably damaging	Het
Fam160a1	A	G	3: 85,673,326	L524P	possibly damaging	Het
Fam184b	G	T	5: 45,537,720	D727E	probably benign	Het
Fhod3	T	C	18: 25,056,358	L619P	probably damaging	Het
Fsd1l	A	G	4: 53,647,754	I66V	probably benign	Het
Fv1	A	G	4: 147,870,255	D426G	possibly damaging	Het
Gm3371	A	T	14: 44,403,778		probably benign	Het
Hnf1a	A	T	5: 114,960,118	S142T	probably damaging	Het
Itgb3	A	G	11: 104,643,939	I541V	probably benign	Het
Itgbl1	G	T	14: 123,843,926	C239F	probably damaging	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Larp1b	G	T	3: 40,967,494	S116I	probably benign	Het
Lmtk3	A	G	7: 45,794,509		probably benign	Het
Mapk10	T	C	5: 102,989,647	I235V	probably damaging	Het
Mctp1	C	T	13: 76,731,768		probably benign	Het
Megf8	G	A	7: 25,353,860	D1819N	probably damaging	Het
Muc6	T	C	7: 141,637,804	T2254A	possibly damaging	Het
Nbr1	T	A	11: 101,569,591	S444T	probably damaging	Het
Ncor2	A	T	5: 125,024,237	D1956E	probably damaging	Het
Ndufaf5	T	C	2: 140,188,743	V183A	probably benign	Het
Nfasc	G	A	1: 132,570,481	T1155M	probably damaging	Het
Nol12	A	G	15: 78,937,174	E78G	probably damaging	Het
Npy5r	T	A	8: 66,681,346	H265L	probably benign	Het
Olfr1008	G	A	2: 85,690,128	G233D	possibly damaging	Het
Olfr418	T	A	1: 173,270,850	L225H	probably damaging	Het
Pop1	A	G	15: 34,529,071	E749G	probably benign	Het
Ppil3	T	C	1: 58,438,388	I66V	probably damaging	Het
Prl4a1	C	A	13: 28,018,571	T43K	possibly damaging	Het
Prop1	A	G	11: 50,953,286		probably benign	Het
Qrsl1	A	T	10: 43,885,014	I218N	probably damaging	Het
Rbm22	T	A	18: 60,564,412	M63K	possibly damaging	Het
Rictor	T	C	15: 6,786,414	S1056P	probably benign	Het
Rps6kb2	T	C	19: 4,157,588	T388A	probably damaging	Het
Slc7a5	A	G	8: 121,886,390		probably benign	Het
Sp100	A	T	1: 85,708,001	D509V	probably damaging	Het
Spata18	G	T	5: 73,672,518		probably null	Het
Sspo	C	A	6: 48,459,568	T1254K	possibly damaging	Het
Stk19	A	G	17: 34,832,158		probably benign	Het
Taar8b	T	A	10: 24,091,364	I311F	probably damaging	Het
Themis2	C	A	4: 132,783,347		probably null	Het
Tll2	T	C	19: 41,086,263	Y937C	possibly damaging	Het
Trim34a	T	A	7: 104,247,732	M1K	probably null	Het
Usp50	G	A	2: 126,778,038	T118I	possibly damaging	Het
Vps13d	G	A	4: 145,148,858	S1693F	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Vps16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Vps16	APN	2	130437696	missense	probably benign	0.19
IGL01400:Vps16	APN	2	130438353	missense	possibly damaging	0.73
IGL01542:Vps16	APN	2	130438394	missense	probably damaging	0.97
IGL02011:Vps16	APN	2	130441479	missense	probably benign	0.04
IGL02220:Vps16	APN	2	130441653	missense	possibly damaging	0.85
IGL02587:Vps16	APN	2	130439716	critical splice donor site	probably null
R0427:Vps16	UTSW	2	130438850	missense	probably benign	0.00
R0507:Vps16	UTSW	2	130437712	critical splice donor site	probably null
R1550:Vps16	UTSW	2	130440340	missense	probably benign	0.09
R1789:Vps16	UTSW	2	130443600	missense	probably benign	0.42
R3895:Vps16	UTSW	2	130438676	missense	possibly damaging	0.96
R3981:Vps16	UTSW	2	130442594	missense	possibly damaging	0.77
R4092:Vps16	UTSW	2	130439912	missense	probably damaging	1.00
R4555:Vps16	UTSW	2	130443576	missense	probably damaging	1.00
R4569:Vps16	UTSW	2	130442204	missense	probably benign
R4803:Vps16	UTSW	2	130438110	missense	probably benign	0.27
R4835:Vps16	UTSW	2	130438300	splice site	probably benign
R5022:Vps16	UTSW	2	130439452	missense	probably benign	0.07
R5023:Vps16	UTSW	2	130439452	missense	probably benign	0.07
R5057:Vps16	UTSW	2	130439452	missense	probably benign	0.07
R5158:Vps16	UTSW	2	130441279	missense	probably damaging	1.00
R5177:Vps16	UTSW	2	130443368	nonsense	probably null
R5540:Vps16	UTSW	2	130442385	missense	probably benign	0.00
R5680:Vps16	UTSW	2	130440324	missense	possibly damaging	0.64
R5689:Vps16	UTSW	2	130439091	nonsense	probably null
R5690:Vps16	UTSW	2	130439091	nonsense	probably null
R5926:Vps16	UTSW	2	130443556	missense	probably damaging	0.97
R5992:Vps16	UTSW	2	130424449	critical splice donor site	probably null
R6135:Vps16	UTSW	2	130438653	missense	possibly damaging	0.57
R6370:Vps16	UTSW	2	130443384	missense	probably damaging	1.00
R6898:Vps16	UTSW	2	130437681	missense	possibly damaging	0.74
R7378:Vps16	UTSW	2	130438179	missense	probably damaging	1.00
R7487:Vps16	UTSW	2	130439057	nonsense	probably null

Posted On

2015-04-16