Mutagenetix > Incidental Mutation

Incidental Mutation 'R9420:Vps11'

712282

Institutional Source

Beutler Lab

Gene Symbol

Vps11

Ensembl Gene

ENSMUSG00000032127

Gene Name

VPS11, CORVET/HOPS core subunit

Synonyms

1200011A11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9420 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44259046-44272967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44267719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 298 (F298L)

Ref Sequence

ENSEMBL: ENSMUSP00000034644 (fasta)

Gene Model

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

AlphaFold

Q91W86

Predicted Effect

probably benign
Transcript: ENSMUST00000034644
AA Change: F298L

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034644
Gene: ENSMUSG00000032127
AA Change: F298L

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: F18L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000213740

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214510
AA Change: F298L

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,912,277 (GRCm39)	I56T	probably benign	Het
Adissp	T	C	2: 130,993,682 (GRCm39)		probably null	Het
Akr1c12	A	G	13: 4,325,796 (GRCm39)	L99S	probably damaging	Het
Azin1	C	A	15: 38,493,871 (GRCm39)	V251F	possibly damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
C2cd3	A	T	7: 100,065,262 (GRCm39)	M305L		Het
Casz1	A	G	4: 149,023,320 (GRCm39)	T742A	probably damaging	Het
Cbfa2t2	A	G	2: 154,352,426 (GRCm39)		probably null	Het
Clec2e	T	A	6: 129,071,420 (GRCm39)	Y139F	possibly damaging	Het
Crisp2	T	A	17: 41,094,724 (GRCm39)	N117I	possibly damaging	Het
Ddx52	A	T	11: 83,833,008 (GRCm39)	D2V	probably damaging	Het
Dmpk	T	A	7: 18,824,946 (GRCm39)	V442E	probably benign	Het
Dnah2	A	T	11: 69,368,942 (GRCm39)	M1654K	probably benign	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,739,935 (GRCm39)		probably benign	Het
Erlec1	A	G	11: 30,885,054 (GRCm39)	V411A	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Fry	A	G	5: 150,356,994 (GRCm39)	E1847G	possibly damaging	Het
Gck	A	G	11: 5,899,553 (GRCm39)		probably null	Het
Gga2	T	C	7: 121,603,195 (GRCm39)	D167G	probably damaging	Het
Gprc6a	A	G	10: 51,491,506 (GRCm39)	S748P	probably damaging	Het
H2-M10.2	T	C	17: 36,595,643 (GRCm39)	R216G	probably benign	Het
H2-M2	T	A	17: 37,792,215 (GRCm39)	I312F	probably benign	Het
Havcr2	A	T	11: 46,347,350 (GRCm39)	Y109F	probably damaging	Het
Hoga1	T	C	19: 42,048,333 (GRCm39)	V67A		Het
Ift70b	T	A	2: 75,768,391 (GRCm39)	I121F	possibly damaging	Het
Kcnk12	C	A	17: 88,104,507 (GRCm39)	V126L	possibly damaging	Het
Klc1	A	G	12: 111,738,950 (GRCm39)	E66G	probably damaging	Het
Klhl2	A	T	8: 65,205,870 (GRCm39)	Y350*	probably null	Het
Letm1	T	C	5: 33,926,802 (GRCm39)	H165R	probably damaging	Het
Luc7l2	T	C	6: 38,547,489 (GRCm39)	C36R	probably damaging	Het
Mab21l1	A	G	3: 55,690,674 (GRCm39)	N87S	probably damaging	Het
Mdn1	A	G	4: 32,678,414 (GRCm39)	T681A	probably damaging	Het
Mrc1	C	T	2: 14,312,790 (GRCm39)	T904I	possibly damaging	Het
Mrpl38	A	G	11: 116,023,276 (GRCm39)	S326P	probably damaging	Het
Mtr	T	G	13: 12,268,764 (GRCm39)	K32N	probably benign	Het
Mybpc3	T	A	2: 90,965,478 (GRCm39)	C1128*	probably null	Het
Ncdn	T	C	4: 126,645,762 (GRCm39)	D49G	probably damaging	Het
Nfkbiz	G	A	16: 55,642,337 (GRCm39)	T27I	probably damaging	Het
Npnt	A	T	3: 132,653,866 (GRCm39)	Y38*	probably null	Het
Nrxn2	A	G	19: 6,581,931 (GRCm39)	E1622G	probably benign	Het
Nutm2	T	C	13: 50,626,964 (GRCm39)	I373T	probably damaging	Het
Or4c58	T	C	2: 89,674,715 (GRCm39)	I201V	probably benign	Het
Or51m1	T	C	7: 103,578,980 (GRCm39)	S317P	possibly damaging	Het
Osbp2	A	G	11: 3,662,170 (GRCm39)	S228P	probably damaging	Het
Pbx3	C	T	2: 34,103,348 (GRCm39)	R208Q	probably damaging	Het
Pcdhgb5	T	C	18: 37,864,838 (GRCm39)	V211A	probably benign	Het
Pi16	C	T	17: 29,544,899 (GRCm39)	T151M	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Ptpro	T	C	6: 137,420,933 (GRCm39)	I1068T	probably benign	Het
Rbl1	A	T	2: 157,035,154 (GRCm39)	Y309N	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,134 (GRCm39)		probably benign	Het
Serpina3g	G	C	12: 104,206,518 (GRCm39)	E106D	probably benign	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Son	G	C	16: 91,454,508 (GRCm39)	R1085P	probably damaging	Het
Tasor	A	T	14: 27,163,927 (GRCm39)	I238F	probably damaging	Het
Tbx18	C	A	9: 87,612,675 (GRCm39)	A75S	probably benign	Het
Tmem232	C	A	17: 65,792,881 (GRCm39)	Q105H	probably damaging	Het
Ttc29	A	G	8: 79,060,390 (GRCm39)	I437V	probably benign	Het
Ttn	T	A	2: 76,621,887 (GRCm39)	I15552L	probably damaging	Het
Ttn	T	A	2: 76,750,313 (GRCm39)	T3579S	probably benign	Het
Wbp11	T	C	6: 136,791,259 (GRCm39)	T625A	unknown	Het
Xylb	T	A	9: 119,215,428 (GRCm39)	N460K	probably damaging	Het
Znrf4	C	A	17: 56,819,218 (GRCm39)	V30F	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
R8742:Vps11	UTSW	9	44,267,070 (GRCm39)	utr 3 prime	probably benign
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'- GCTGTCAGCACAATTCTGCATG -3'

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

Posted On

2022-05-16