Mutagenetix > Incidental Mutation

Incidental Mutation 'R5629:Vps11'

441994

Institutional Source

Beutler Lab

Gene Symbol

Vps11

Ensembl Gene

ENSMUSG00000032127

Gene Name

VPS11, CORVET/HOPS core subunit

Synonyms

1200011A11Rik

MMRRC Submission

043280-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44259046-44272967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44267673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 313 (I313N)

Ref Sequence

ENSEMBL: ENSMUSP00000034644 (fasta)

Gene Model

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

AlphaFold

Q91W86

Predicted Effect

probably damaging
Transcript: ENSMUST00000034644
AA Change: I313N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034644
Gene: ENSMUSG00000032127
AA Change: I313N

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

probably damaging
Transcript: ENSMUST00000213249
AA Change: I33N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000213740

Predicted Effect

probably benign
Transcript: ENSMUST00000214460
AA Change: I172N

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214510
AA Change: I313N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216089

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

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 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 36,014,507 (GRCm39)	D189N	probably benign	Het
Adamts9	A	T	6: 92,775,114 (GRCm39)	V1052D	probably damaging	Het
Apob	T	C	12: 8,057,847 (GRCm39)	Y2077H	probably damaging	Het
Apol7e	A	T	15: 77,602,276 (GRCm39)	K291N	probably benign	Het
Arsk	A	T	13: 76,242,027 (GRCm39)	I82N	probably damaging	Het
Art1	A	G	7: 101,756,286 (GRCm39)	Q159R	probably benign	Het
Atp2a2	A	G	5: 122,598,159 (GRCm39)	V733A	probably damaging	Het
Btn2a2	A	T	13: 23,666,130 (GRCm39)		probably null	Het
Catsper1	C	T	19: 5,386,165 (GRCm39)	P133S	probably benign	Het
Celsr3	A	G	9: 108,726,266 (GRCm39)	D3165G	probably benign	Het
Cldn19	T	A	4: 119,114,116 (GRCm39)	V86E	probably damaging	Het
Ctnna1	T	A	18: 35,382,802 (GRCm39)	D649E	probably benign	Het
Cttnbp2	A	G	6: 18,405,217 (GRCm39)	I1094T	probably damaging	Het
Ddx24	T	C	12: 103,391,806 (GRCm39)		probably benign	Het
Ern2	T	A	7: 121,769,389 (GRCm39)	H879L	probably damaging	Het
Etv4	T	A	11: 101,662,751 (GRCm39)	H277L	probably damaging	Het
Faap100	G	T	11: 120,267,837 (GRCm39)	A312D	probably damaging	Het
Glipr1l1	G	A	10: 111,914,308 (GRCm39)	C223Y	possibly damaging	Het
Gna14	T	C	19: 16,414,097 (GRCm39)	S14P	possibly damaging	Het
Hapln1	A	G	13: 89,749,634 (GRCm39)	T60A	probably damaging	Het
Hars2	T	A	18: 36,921,719 (GRCm39)	Y273*	probably null	Het
Ighv5-6	A	T	12: 113,589,242 (GRCm39)	Y79*	probably null	Het
Iqgap2	T	A	13: 95,768,682 (GRCm39)	N1406I	probably damaging	Het
Kalrn	T	C	16: 33,860,304 (GRCm39)	T215A	possibly damaging	Het
Krtap13-1	T	A	16: 88,526,047 (GRCm39)	S90R	probably benign	Het
Mettl8	T	C	2: 70,795,913 (GRCm39)	I372V	probably benign	Het
Mfn1	A	T	3: 32,615,659 (GRCm39)	T341S	possibly damaging	Het
Mocos	T	A	18: 24,797,142 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,415,036 (GRCm39)	S2661P	possibly damaging	Het
Myo15a	C	T	11: 60,370,578 (GRCm39)	P1113S	probably benign	Het
Myo5a	A	T	9: 75,111,127 (GRCm39)	I1540F	possibly damaging	Het
Myoc	T	C	1: 162,476,156 (GRCm39)	Y287H	probably damaging	Het
Napepld	A	G	5: 21,880,901 (GRCm39)	F165L	probably benign	Het
Ndufb10	T	C	17: 24,941,656 (GRCm39)	E102G	probably damaging	Het
Nrros	T	A	16: 31,963,223 (GRCm39)	I265F	probably damaging	Het
Nrxn1	A	T	17: 90,897,460 (GRCm39)	F891I	possibly damaging	Het
Nsfl1c	T	C	2: 151,346,085 (GRCm39)	Y169H	probably damaging	Het
Oas2	G	A	5: 120,876,516 (GRCm39)	Q476*	probably null	Het
Or51f5	A	T	7: 102,423,847 (GRCm39)	I39F	possibly damaging	Het
Pcnx2	C	A	8: 126,624,780 (GRCm39)	W14L	probably damaging	Het
Pip4p1	T	C	14: 51,165,373 (GRCm39)	H278R	probably benign	Het
Piwil2	C	T	14: 70,660,416 (GRCm39)	V70M	probably damaging	Het
Prss23	A	C	7: 89,159,400 (GRCm39)	V223G	probably damaging	Het
Rarres2	A	T	6: 48,547,194 (GRCm39)	L122Q	probably benign	Het
Robo1	T	C	16: 72,780,598 (GRCm39)	V776A	probably benign	Het
Robo3	G	A	9: 37,330,507 (GRCm39)	Q1008*	probably null	Het
Robo4	G	A	9: 37,319,658 (GRCm39)	C636Y	probably damaging	Het
Sacm1l	A	G	9: 123,395,464 (GRCm39)	M196V	probably benign	Het
Septin7	T	A	9: 25,199,589 (GRCm39)	Y163N	probably damaging	Het
Skint6	G	A	4: 112,870,176 (GRCm39)	T594I	possibly damaging	Het
Slc23a1	T	C	18: 35,759,545 (GRCm39)	H13R	probably benign	Het
Slc25a39	A	C	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc8a3	G	A	12: 81,246,405 (GRCm39)	R883C	probably damaging	Het
Spag17	A	T	3: 99,987,435 (GRCm39)	Y1575F	probably benign	Het
Spdye4c	T	A	2: 128,438,705 (GRCm39)	I321N	probably damaging	Het
Stk32b	G	A	5: 37,614,576 (GRCm39)	P311S	probably damaging	Het
Svs3a	T	A	2: 164,132,040 (GRCm39)	S203T	probably benign	Het
Taf3	A	T	2: 9,922,989 (GRCm39)	I45N	probably damaging	Het
Taf7	T	C	18: 37,776,555 (GRCm39)	N4S	probably benign	Het
Tial1	T	A	7: 128,046,421 (GRCm39)	D87V	probably damaging	Het
Tmem120a	T	A	5: 135,770,904 (GRCm39)	E78V	probably benign	Het
Tmem19	A	G	10: 115,183,165 (GRCm39)	F137L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trim30d	T	C	7: 104,137,136 (GRCm39)	K23E	possibly damaging	Het
Ubxn7	C	A	16: 32,151,117 (GRCm39)	H4Q	unknown	Het
Usp40	C	T	1: 87,908,731 (GRCm39)	R590H	probably benign	Het
Vmn1r90	A	G	7: 14,296,011 (GRCm39)	M22T	possibly damaging	Het
Vmn2r1	G	A	3: 64,012,538 (GRCm39)	V800M	possibly damaging	Het
Zhx1	A	G	15: 57,918,207 (GRCm39)	V13A	probably damaging	Het
Zic4	G	A	9: 91,260,805 (GRCm39)	R20H	probably benign	Het
Zp3r	C	T	1: 130,510,616 (GRCm39)	V369M	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
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
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'- GATGCTTGTGCCAGCTCTTAG -3'
(R):5'- TGTCAGCACAATTCTGCATGTAG -3'

Sequencing Primer
(F):5'- TGCCAGCTCTTAGAACCTGGTG -3'
(R):5'- CACAATTCTGCATGTAGGAGATG -3'

Posted On

2016-11-08