Mutagenetix > Incidental Mutation

Incidental Mutation 'R5910:Vps11'

460931

Institutional Source

Beutler Lab

Gene Symbol

Vps11

Ensembl Gene

ENSMUSG00000032127

Gene Name

VPS11, CORVET/HOPS core subunit

Synonyms

1200011A11Rik

MMRRC Submission

044107-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44259046-44272967 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 44270432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034644] [ENSMUST00000213249] [ENSMUST00000213740] [ENSMUST00000214510]

AlphaFold

Q91W86

Predicted Effect

probably null
Transcript: ENSMUST00000034644

SMART Domains

Protein: ENSMUSP00000034644
Gene: ENSMUSG00000032127

Domain	Start	End	E-Value	Type
low complexity region	26	40	N/A	INTRINSIC
SCOP:d1erja_	59	292	3e-10	SMART
Blast:WD40	73	117	2e-22	BLAST
Blast:WD40	125	168	9e-24	BLAST
Blast:WD40	175	214	6e-16	BLAST
Blast:WD40	219	259	2e-20	BLAST
Pfam:Clathrin	412	548	2.7e-16	PFAM
coiled coil region	775	813	N/A	INTRINSIC
RING	822	860	6.14e-5	SMART
Pfam:VPS11_C	862	908	5.2e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157403

Predicted Effect

probably benign
Transcript: ENSMUST00000213249

Predicted Effect

probably benign
Transcript: ENSMUST00000213740

Predicted Effect

probably null
Transcript: ENSMUST00000214460

Predicted Effect

probably benign
Transcript: ENSMUST00000214510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216089

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

95% (93/98)

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 Vps11 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Allele List at MGI

All alleles(8) : Targeted(4) Gene trapped(4)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,645,076 (GRCm39)	N976D	probably damaging	Het
Adamts1	G	A	16: 85,599,037 (GRCm39)	R188W	probably benign	Het
Adcy4	A	T	14: 56,016,470 (GRCm39)	V327D	probably damaging	Het
Alg8	T	C	7: 97,039,493 (GRCm39)	I408T	possibly damaging	Het
Ankib1	T	C	5: 3,743,217 (GRCm39)	S933G	probably benign	Het
Ap2a2	A	G	7: 141,178,691 (GRCm39)	D106G	probably damaging	Het
Arhgap22	A	T	14: 33,088,572 (GRCm39)	H351L	probably damaging	Het
Arhgef2	A	G	3: 88,542,327 (GRCm39)	Y310C	probably damaging	Het
Atm	A	T	9: 53,359,380 (GRCm39)	S2804R	probably damaging	Het
Baz2b	A	G	2: 59,807,770 (GRCm39)	L163P	possibly damaging	Het
Bcl2l12	C	T	7: 44,645,967 (GRCm39)		probably null	Het
Cdh23	A	G	10: 60,213,600 (GRCm39)	V1495A	possibly damaging	Het
Cep78	A	G	19: 15,946,492 (GRCm39)	S447P	possibly damaging	Het
Cfap43	G	A	19: 47,768,710 (GRCm39)	T778I	possibly damaging	Het
Cfap54	A	T	10: 92,901,043 (GRCm39)	N170K	probably damaging	Het
Cmya5	A	T	13: 93,229,151 (GRCm39)	L1979Q	probably damaging	Het
Col15a1	A	T	4: 47,289,514 (GRCm39)	E846D	probably damaging	Het
Col5a1	A	G	2: 27,926,900 (GRCm39)	K308E	possibly damaging	Het
Dcst1	T	A	3: 89,257,731 (GRCm39)	T680S	possibly damaging	Het
Dsp	T	C	13: 38,376,445 (GRCm39)	L1410P	possibly damaging	Het
Edem3	T	A	1: 151,646,578 (GRCm39)		probably null	Het
Efcab3	A	T	11: 104,581,760 (GRCm39)	E34V	probably benign	Het
Eif4e2	T	A	1: 87,148,696 (GRCm39)	Y64N	probably damaging	Het
Fcgbp	C	T	7: 27,784,928 (GRCm39)		probably benign	Het
Gm7275	A	T	16: 47,893,826 (GRCm39)		noncoding transcript	Het
Grin3b	G	T	10: 79,808,855 (GRCm39)	V202L	probably benign	Het
Gsdmc4	G	A	15: 63,767,101 (GRCm39)	S223F	possibly damaging	Het
H2bc14	A	G	13: 21,906,470 (GRCm39)	N68S	probably benign	Het
Hbp1	T	C	12: 31,987,651 (GRCm39)	H183R	probably benign	Het
Hectd3	A	G	4: 116,859,331 (GRCm39)	M652V	probably benign	Het
Hmgxb4	T	C	8: 75,726,193 (GRCm39)	F13L	probably benign	Het
Hnrnpab	T	C	11: 51,492,281 (GRCm39)	K271R	probably benign	Het
Ilvbl	A	T	10: 78,412,947 (GRCm39)	K156N	probably benign	Het
Iqce	A	T	5: 140,687,973 (GRCm39)		probably benign	Het
Itpr2	C	A	6: 146,231,069 (GRCm39)	V1194L	probably benign	Het
Kif18b	A	G	11: 102,804,370 (GRCm39)	F384L	probably benign	Het
Klf14	A	G	6: 30,934,774 (GRCm39)	Y287H	probably benign	Het
Klhl6	A	G	16: 19,775,844 (GRCm39)	M238T	probably benign	Het
Lbp	G	A	2: 158,166,477 (GRCm39)	V344I	probably benign	Het
Lrp12	T	C	15: 39,739,439 (GRCm39)		probably null	Het
Mapk7	T	A	11: 61,384,447 (GRCm39)	M1L	probably benign	Het
Muc5b	A	G	7: 141,415,048 (GRCm39)	T2665A	possibly damaging	Het
Ncln	A	T	10: 81,331,912 (GRCm39)		probably null	Het
Nfxl1	T	C	5: 72,697,708 (GRCm39)	R347G	probably benign	Het
Npnt	C	A	3: 132,612,179 (GRCm39)	C231F	probably damaging	Het
Nrap	T	A	19: 56,330,743 (GRCm39)	H1070L	probably benign	Het
Nrxn1	G	T	17: 91,011,746 (GRCm39)	Y294*	probably null	Het
Or4c126	A	G	2: 89,823,782 (GRCm39)	D15G	probably benign	Het
Or9s27	T	C	1: 92,516,429 (GRCm39)	Y126H	probably damaging	Het
Otog	A	G	7: 45,948,022 (GRCm39)	H2341R	possibly damaging	Het
Paqr3	T	C	5: 97,243,887 (GRCm39)		probably null	Het
Pcdhb11	T	C	18: 37,556,796 (GRCm39)	F709L	probably benign	Het
Phf12	G	A	11: 77,918,224 (GRCm39)	R812Q	probably damaging	Het
Polr2a	A	T	11: 69,637,696 (GRCm39)	L216Q	probably damaging	Het
Polrmt	A	G	10: 79,579,331 (GRCm39)	L140P	probably benign	Het
Pou2f3	C	T	9: 43,045,769 (GRCm39)		probably null	Het
Prkcd	A	T	14: 30,317,938 (GRCm39)	N548K	probably benign	Het
Pygb	A	G	2: 150,657,620 (GRCm39)	D361G	probably benign	Het
Rpl9	A	T	5: 65,546,044 (GRCm39)		probably benign	Het
Rubcnl	A	T	14: 75,272,912 (GRCm39)	T211S	probably benign	Het
Rusc1	C	T	3: 88,999,027 (GRCm39)	G252S	probably benign	Het
Scnn1g	A	G	7: 121,337,318 (GRCm39)	T60A	probably damaging	Het
Sipa1l2	T	G	8: 126,218,423 (GRCm39)	T305P	probably benign	Het
Slc18b1	T	A	10: 23,700,565 (GRCm39)		probably benign	Het
Sp100	G	A	1: 85,608,861 (GRCm39)		probably null	Het
Tekt5	A	T	16: 10,205,017 (GRCm39)		probably null	Het
Tlnrd1	T	A	7: 83,533,693 (GRCm39)		probably benign	Het
Tpcn1	A	G	5: 120,685,462 (GRCm39)		probably benign	Het
Tpcn2	T	C	7: 144,814,719 (GRCm39)	I461V	probably benign	Het
Traf3ip1	A	G	1: 91,455,467 (GRCm39)	K643E	probably damaging	Het
Trim33	T	C	3: 103,251,892 (GRCm39)	C914R	probably damaging	Het
Trip11	G	A	12: 101,849,738 (GRCm39)	T1442I	probably damaging	Het
Ttll6	A	G	11: 96,026,415 (GRCm39)	M107V	possibly damaging	Het
Uap1l1	A	G	2: 25,253,445 (GRCm39)		probably benign	Het
Ube3b	T	A	5: 114,553,370 (GRCm39)	I914N	possibly damaging	Het
Usp24	A	G	4: 106,237,665 (GRCm39)	T1107A	probably damaging	Het
Usp40	A	T	1: 87,896,122 (GRCm39)	C811*	probably null	Het
Wdr91	A	T	6: 34,868,422 (GRCm39)	I433N	possibly damaging	Het
Zfp770	G	C	2: 114,026,713 (GRCm39)	S452*	probably null	Het

Other mutations in Vps11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01977:Vps11	APN	9	44,267,516 (GRCm39)	splice site	probably benign
IGL03135:Vps11	APN	9	44,267,653 (GRCm39)	missense	probably benign	0.39
PIT4696001:Vps11	UTSW	9	44,269,486 (GRCm39)	missense	possibly damaging	0.89
R0042:Vps11	UTSW	9	44,267,588 (GRCm39)	nonsense	probably null
R0042:Vps11	UTSW	9	44,267,588 (GRCm39)	nonsense	probably null
R0122:Vps11	UTSW	9	44,265,809 (GRCm39)	missense	probably damaging	1.00
R0335:Vps11	UTSW	9	44,265,135 (GRCm39)	missense	probably null	0.02
R0714:Vps11	UTSW	9	44,270,953 (GRCm39)	missense	possibly damaging	0.90
R1068:Vps11	UTSW	9	44,264,316 (GRCm39)	missense	probably damaging	1.00
R1873:Vps11	UTSW	9	44,271,233 (GRCm39)	missense	probably damaging	1.00
R1991:Vps11	UTSW	9	44,270,524 (GRCm39)	missense	probably damaging	0.97
R2068:Vps11	UTSW	9	44,269,613 (GRCm39)	missense	probably damaging	0.99
R2084:Vps11	UTSW	9	44,264,558 (GRCm39)	missense	probably benign	0.14
R2103:Vps11	UTSW	9	44,270,524 (GRCm39)	missense	probably damaging	0.97
R2119:Vps11	UTSW	9	44,260,294 (GRCm39)	missense	probably benign	0.01
R4160:Vps11	UTSW	9	44,267,017 (GRCm39)	missense	probably damaging	0.98
R4161:Vps11	UTSW	9	44,267,017 (GRCm39)	missense	probably damaging	0.98
R4564:Vps11	UTSW	9	44,272,894 (GRCm39)	missense	probably damaging	1.00
R4879:Vps11	UTSW	9	44,264,597 (GRCm39)	missense	probably benign
R5629:Vps11	UTSW	9	44,267,673 (GRCm39)	missense	probably damaging	1.00
R5988:Vps11	UTSW	9	44,265,221 (GRCm39)	missense	probably benign	0.01
R6430:Vps11	UTSW	9	44,272,847 (GRCm39)	missense	probably benign	0.11
R7002:Vps11	UTSW	9	44,266,376 (GRCm39)	missense	probably damaging	1.00
R7147:Vps11	UTSW	9	44,266,379 (GRCm39)	nonsense	probably null
R7237:Vps11	UTSW	9	44,265,803 (GRCm39)	missense	probably damaging	1.00
R7261:Vps11	UTSW	9	44,265,800 (GRCm39)	missense	probably damaging	1.00
R7577:Vps11	UTSW	9	44,260,258 (GRCm39)	missense	probably benign	0.01
R8093:Vps11	UTSW	9	44,267,529 (GRCm39)	missense	probably damaging	1.00
R8142:Vps11	UTSW	9	44,265,852 (GRCm39)	missense	probably benign	0.05
R8238:Vps11	UTSW	9	44,264,057 (GRCm39)	missense	probably benign	0.08
R8366:Vps11	UTSW	9	44,267,052 (GRCm39)	nonsense	probably null
R8374:Vps11	UTSW	9	44,267,706 (GRCm39)	missense	probably benign
R8731:Vps11	UTSW	9	44,265,756 (GRCm39)	missense	probably benign	0.00
R8742:Vps11	UTSW	9	44,267,070 (GRCm39)	utr 3 prime	probably benign
R9420:Vps11	UTSW	9	44,267,719 (GRCm39)	missense	probably benign	0.14
R9474:Vps11	UTSW	9	44,260,290 (GRCm39)	nonsense	probably null
R9625:Vps11	UTSW	9	44,265,738 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTAACTGTGCCTGACAAGGG -3'
(R):5'- GTCTCTGCAGTTGATACGTGC -3'

Sequencing Primer
(F):5'- GAGAGTCACATTATGCTATTACAGGC -3'
(R):5'- AGTTGATACGTGCTGCCAC -3'

Posted On

2017-02-28