Mutagenetix > Incidental Mutation

Incidental Mutation 'R7261:Vps11'

564626

Institutional Source

Beutler Lab

Gene Symbol

Vps11

Ensembl Gene

ENSMUSG00000032127

Gene Name

VPS11, CORVET/HOPS core subunit

Synonyms

1200011A11Rik

MMRRC Submission

045387-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44259046-44272967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44265800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 493 (L493P)

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: L493P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034644
Gene: ENSMUSG00000032127
AA Change: L493P

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 benign
Transcript: ENSMUST00000213249

Predicted Effect

probably benign
Transcript: ENSMUST00000213740

Predicted Effect

probably benign
Transcript: ENSMUST00000214460

Predicted Effect

probably benign
Transcript: ENSMUST00000214510

Meta Mutation Damage Score

0.2825

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (84/85)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,259,526 (GRCm39)	F1954L	probably damaging	Het
Acmsd	T	G	1: 127,687,561 (GRCm39)	I281R	probably damaging	Het
Adamts2	A	T	11: 50,677,424 (GRCm39)	M742L	possibly damaging	Het
Adgrf4	G	A	17: 42,978,326 (GRCm39)	T339I	probably benign	Het
Aff1	T	C	5: 103,976,245 (GRCm39)	S448P	probably damaging	Het
Agbl2	A	T	2: 90,619,288 (GRCm39)	S38C	possibly damaging	Het
Akap7	C	T	10: 25,147,416 (GRCm39)	D105N	possibly damaging	Het
Arhgap21	A	G	2: 20,885,177 (GRCm39)	F677L	probably benign	Het
Atf6b	G	T	17: 34,869,792 (GRCm39)	V271F	probably damaging	Het
B3gnt5	A	G	16: 19,588,123 (GRCm39)	Y114C	probably damaging	Het
Casp7	T	A	19: 56,424,765 (GRCm39)	D161E	probably benign	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,437,136 (GRCm39)	T1758A	probably benign	Het
Cfap74	C	A	4: 155,549,831 (GRCm39)	P155T	unknown	Het
Champ1	A	G	8: 13,928,517 (GRCm39)	D225G	possibly damaging	Het
Chrng	A	T	1: 87,134,962 (GRCm39)		probably null	Het
Cnksr1	T	C	4: 133,963,084 (GRCm39)		probably null	Het
Col15a1	G	A	4: 47,269,088 (GRCm39)	G582D	probably benign	Het
Cwc25	A	G	11: 97,648,585 (GRCm39)	V81A	possibly damaging	Het
Ddhd1	A	G	14: 45,894,688 (GRCm39)	Y261H	probably damaging	Het
Defa29	A	G	8: 21,816,818 (GRCm39)		probably null	Het
Diaph3	A	C	14: 87,202,893 (GRCm39)	C666G	probably benign	Het
Dlx2	A	G	2: 71,375,019 (GRCm39)	Y282H	probably damaging	Het
Dsc3	A	T	18: 20,113,814 (GRCm39)	Y369*	probably null	Het
Dtwd1	A	G	2: 126,000,424 (GRCm39)	N120S	probably benign	Het
Dysf	G	A	6: 84,169,992 (GRCm39)	S1761N	probably damaging	Het
Enthd1	A	T	15: 80,444,416 (GRCm39)	N46K	probably damaging	Het
Epha7	T	A	4: 28,813,418 (GRCm39)	I12N	probably benign	Het
Fam171a2	T	A	11: 102,328,900 (GRCm39)	N620Y	probably damaging	Het
Garin4	T	C	1: 190,896,308 (GRCm39)	S112G	unknown	Het
Gfpt2	A	T	11: 49,714,078 (GRCm39)	E278D	possibly damaging	Het
Gm3285	A	G	10: 77,698,244 (GRCm39)	Q131R	unknown	Het
Gpcpd1	A	C	2: 132,410,619 (GRCm39)	C23G	probably damaging	Het
Gtpbp4	A	T	13: 9,037,954 (GRCm39)	H228Q	probably benign	Het
Hdac7	A	G	15: 97,704,415 (GRCm39)	V500A	probably benign	Het
Hykk	T	G	9: 54,828,010 (GRCm39)	M83R	possibly damaging	Het
Idi1	A	G	13: 8,936,931 (GRCm39)	I101V	probably benign	Het
Irs2	A	T	8: 11,057,018 (GRCm39)	H471Q	possibly damaging	Het
Itsn1	T	C	16: 91,702,194 (GRCm39)	V12A	probably benign	Het
Jak2	A	G	19: 29,288,385 (GRCm39)	I1079V	possibly damaging	Het
Kcnt2	G	A	1: 140,282,255 (GRCm39)	R80H	possibly damaging	Het
Lamb2	T	C	9: 108,358,496 (GRCm39)	Y178H	probably damaging	Het
Lgr5	A	T	10: 115,423,370 (GRCm39)	L10Q	possibly damaging	Het
Lnx1	G	T	5: 74,838,175 (GRCm39)	S29*	probably null	Het
Lpcat3	T	A	6: 124,675,050 (GRCm39)	F57I	probably benign	Het
Manf	T	C	9: 106,769,088 (GRCm39)	T4A	probably benign	Het
Map2k3	G	A	11: 60,836,393 (GRCm39)		probably null	Het
Myh14	G	A	7: 44,273,761 (GRCm39)	Q1329*	probably null	Het
Myocd	T	C	11: 65,078,422 (GRCm39)	S458G	probably damaging	Het
Ncor2	T	C	5: 125,187,143 (GRCm39)		probably null	Het
Ndufs8	A	T	19: 3,961,606 (GRCm39)	N23K	probably benign	Het
Nkx6-1	T	C	5: 101,812,006 (GRCm39)	K32R	unknown	Het
Nlrp3	T	G	11: 59,439,272 (GRCm39)	V283G	possibly damaging	Het
Nme3	A	G	17: 25,116,037 (GRCm39)		probably null	Het
Or1o3	A	G	17: 37,574,076 (GRCm39)	F160L	probably benign	Het
Or8g23	C	T	9: 38,971,504 (GRCm39)	V153M	possibly damaging	Het
Parvg	T	C	15: 84,215,297 (GRCm39)		probably null	Het
Peg10	T	A	6: 4,756,591 (GRCm39)	M389K	unknown	Het
Phf23	G	T	11: 69,890,091 (GRCm39)	C340F	possibly damaging	Het
Piwil2	A	G	14: 70,611,860 (GRCm39)	Y929H	probably damaging	Het
Prss39	A	G	1: 34,539,369 (GRCm39)	D203G	probably damaging	Het
Prss54	G	T	8: 96,286,367 (GRCm39)	D235E	probably benign	Het
Prtg	T	A	9: 72,815,117 (GRCm39)	M1015K	possibly damaging	Het
Rbbp8	T	C	18: 11,838,799 (GRCm39)	I160T	probably damaging	Het
Rxylt1	A	T	10: 121,924,822 (GRCm39)	D293E	probably benign	Het
Scn10a	C	A	9: 119,438,790 (GRCm39)	C1692F	probably damaging	Het
Scn11a	C	T	9: 119,648,899 (GRCm39)	D55N	probably damaging	Het
Secisbp2	G	T	13: 51,836,498 (GRCm39)	V768F	probably damaging	Het
Skic3	A	G	13: 76,261,698 (GRCm39)	T138A	probably benign	Het
Spag16	T	C	1: 70,338,780 (GRCm39)	I426T	possibly damaging	Het
Sspo	G	A	6: 48,427,011 (GRCm39)	V250M	possibly damaging	Het
Strbp	A	T	2: 37,531,149 (GRCm39)		probably null	Het
Sv2c	C	T	13: 96,224,809 (GRCm39)	V167M	probably damaging	Het
Tdpoz1	G	A	3: 93,577,794 (GRCm39)	S330L	not run	Het
Tigd2	T	A	6: 59,188,052 (GRCm39)	D306E	probably benign	Het
Trrap	C	T	5: 144,782,287 (GRCm39)	P3278S	possibly damaging	Het
Vdac1	A	T	11: 52,265,761 (GRCm39)	K28N	probably damaging	Het
Vmn1r84	A	T	7: 12,096,069 (GRCm39)	M208K	probably damaging	Het
Vmn2r77	A	T	7: 86,460,518 (GRCm39)	K615*	probably null	Het
Zbtb21	T	C	16: 97,754,179 (GRCm39)	I35V	possibly damaging	Het
Zbtb26	A	T	2: 37,326,667 (GRCm39)	M123K	possibly damaging	Het
Zfp236	A	T	18: 82,627,470 (GRCm39)	D1576E	possibly 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
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'- AAGGGCTTCCTGATAGTTCTG -3'
(R):5'- GCAAAAGGCTGGTTGGCATG -3'

Sequencing Primer
(F):5'- TGAAGAAGTGCCCCGGTC -3'
(R):5'- GTTTTTCAAGCCAGGATGTAATTGCC -3'

Posted On

2019-06-26