Mutagenetix > Incidental Mutation

Incidental Mutation 'R8742:Vps11'

686540

Institutional Source

Beutler Lab

Gene Symbol

Vps11

Ensembl Gene

ENSMUSG00000032127

Gene Name

VPS11, CORVET/HOPS core subunit

Synonyms

1200011A11Rik

MMRRC Submission

068587-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8742 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44259046-44272967 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 44267070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149457 (fasta)

Gene Model

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

AlphaFold

Q91W86

Predicted Effect

silent
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

unknown
Transcript: ENSMUST00000213249
AA Change: L86P

Predicted Effect

probably benign
Transcript: ENSMUST00000213740

Predicted Effect

silent
Transcript: ENSMUST00000214460

Predicted Effect

probably benign
Transcript: ENSMUST00000214510

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

100% (55/55)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,265,835 (GRCm39)	I893V	probably benign	Het
Adhfe1	A	G	1: 9,630,401 (GRCm39)	I317V	probably benign	Het
Adnp2	A	G	18: 80,171,556 (GRCm39)	V951A	probably damaging	Het
Ankrd35	T	A	3: 96,586,502 (GRCm39)	H59Q	probably damaging	Het
Atg16l1	C	T	1: 87,694,620 (GRCm39)	T161I	probably damaging	Het
Axl	A	G	7: 25,463,861 (GRCm39)	V591A	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Cdcp3	A	G	7: 130,783,741 (GRCm39)	I45V	unknown	Het
Ceacam13	T	A	7: 17,743,934 (GRCm39)	S14T	probably damaging	Het
Cfh	A	T	1: 140,029,390 (GRCm39)	F986L	probably damaging	Het
Cfh	G	T	1: 140,064,469 (GRCm39)	T393K	probably damaging	Het
Clic1	A	G	17: 35,274,356 (GRCm39)	N179S	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dst	T	A	1: 34,251,425 (GRCm39)	D2159E	probably benign	Het
Epn3	T	G	11: 94,386,921 (GRCm39)	T150P	probably damaging	Het
Fgr	T	C	4: 132,724,828 (GRCm39)	Y310H	probably damaging	Het
Filip1l	A	G	16: 57,391,593 (GRCm39)	Y727C	probably damaging	Het
Fis1	G	T	5: 136,982,365 (GRCm39)		probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gdf10	A	T	14: 33,654,426 (GRCm39)	H311L	probably benign	Het
Gphn	C	T	12: 78,659,766 (GRCm39)	R423C	probably damaging	Het
Gpr132	T	C	12: 112,819,517 (GRCm39)		probably benign	Het
Herc2	C	A	7: 55,744,143 (GRCm39)	T406K	probably benign	Het
Hpf1	T	C	8: 61,346,748 (GRCm39)	V21A	probably benign	Het
Ifitm6	A	G	7: 140,596,008 (GRCm39)	I75T	probably benign	Het
Itgax	A	T	7: 127,743,795 (GRCm39)	H852L	probably benign	Het
Klhl3	T	C	13: 58,159,021 (GRCm39)	Y546C	probably damaging	Het
Lbr	A	G	1: 181,644,571 (GRCm39)	L578P	possibly damaging	Het
Ltbp1	A	G	17: 75,617,217 (GRCm39)	Y734C	probably damaging	Het
Mapre2	C	A	18: 24,016,688 (GRCm39)	H281N	probably benign	Het
Mcm4	T	C	16: 15,443,430 (GRCm39)	D831G	possibly damaging	Het
Mlf1	G	A	3: 67,305,119 (GRCm39)	A207T	probably damaging	Het
Mslnl	A	T	17: 25,964,047 (GRCm39)	I459F	probably damaging	Het
Mtnr1a	A	G	8: 45,540,720 (GRCm39)	D227G	probably benign	Het
Ncapg	T	A	5: 45,851,216 (GRCm39)	L803Q	probably damaging	Het
Nr3c2	T	G	8: 77,635,210 (GRCm39)	S104A	probably damaging	Het
Or4k52	A	G	2: 111,610,910 (GRCm39)	I82V	probably benign	Het
Pard3	C	T	8: 128,050,592 (GRCm39)	A218V	possibly damaging	Het
Poteg	A	T	8: 27,984,957 (GRCm39)	N439Y	possibly damaging	Het
Pramel34	T	A	5: 93,785,935 (GRCm39)	D115V	probably damaging	Het
Ret	A	T	6: 118,155,484 (GRCm39)	L404Q	probably damaging	Het
Ripk4	A	T	16: 97,556,272 (GRCm39)	V157D	probably damaging	Het
Rsf1	CGGCGGCGGCGGCGGCGGCGGC	CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,121 (GRCm39)		probably benign	Het
Serinc1	A	T	10: 57,395,895 (GRCm39)	N298K	probably benign	Het
Sh3pxd2a	G	A	19: 47,275,073 (GRCm39)	S230L	probably benign	Het
Shb	G	C	4: 45,458,319 (GRCm39)	R282G	probably benign	Het
Skint11	T	C	4: 114,051,922 (GRCm39)	I90T	probably damaging	Het
Slc36a4	A	G	9: 15,632,039 (GRCm39)	T72A	probably damaging	Het
Slc38a9	T	A	13: 112,865,818 (GRCm39)	I505K	probably damaging	Het
Sprr3	C	T	3: 92,364,307 (GRCm39)	R179H	possibly damaging	Het
Syne1	A	T	10: 5,058,661 (GRCm39)	I7284N	probably benign	Het
Timeless	A	T	10: 128,083,107 (GRCm39)	T648S	probably benign	Het
Trim44	A	G	2: 102,230,521 (GRCm39)	M170T	possibly damaging	Het
Trpm7	A	G	2: 126,667,469 (GRCm39)	F815L	probably damaging	Het
Uimc1	A	G	13: 55,240,971 (GRCm39)	L39S	possibly damaging	Het
Vmn2r13	T	C	5: 109,304,263 (GRCm39)	T723A	probably benign	Het
Zp3r	A	T	1: 130,511,230 (GRCm39)	C383S	probably damaging	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
R5910:Vps11	UTSW	9	44,270,432 (GRCm39)	splice site	probably null
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
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'- AGCACCACAGTTTCCACAGG -3'
(R):5'- CAGAATATAACTCCAGGACTGTCTAC -3'

Sequencing Primer
(F):5'- CAGGAAAAGTGAACTCTTCCTGATG -3'
(R):5'- ATAACTCCAGGACTGTCTACTGTGTC -3'

Posted On

2021-10-20