Incidental Mutation 'R0042:Vps11'
| ID |
15580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps11
|
| Ensembl Gene |
ENSMUSG00000032127 |
| Gene Name |
VPS11, CORVET/HOPS core subunit |
| Synonyms |
1200011A11Rik |
| MMRRC Submission |
038336-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0042 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44259046-44272967 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 44267588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 341
(Y341*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034644]
[ENSMUST00000213249]
[ENSMUST00000213740]
[ENSMUST00000214510]
|
| AlphaFold |
Q91W86 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034644
AA Change: Y341*
|
| SMART Domains |
Protein: ENSMUSP00000034644
Gene: ENSMUSG00000032127
AA Change: Y341*
| 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 null
Transcript: ENSMUST00000214460
AA Change: Y200*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214510
AA Change: Y341*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216089
|
| Meta Mutation Damage Score |
0.9665 |
| Coding Region Coverage |
- 1x: 81.9%
- 3x: 73.7%
- 10x: 53.7%
- 20x: 34.5%
|
| Validation Efficiency |
94% (58/62) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,059,245 (GRCm39) |
|
probably benign |
Het |
| Adgrf3 |
A |
G |
5: 30,402,426 (GRCm39) |
L534P |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,730,280 (GRCm39) |
D3568G |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,809,409 (GRCm39) |
|
probably benign |
Het |
| Ccnb2 |
A |
G |
9: 70,326,335 (GRCm39) |
V34A |
probably benign |
Het |
| Dmxl1 |
C |
A |
18: 49,997,102 (GRCm39) |
T466K |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,254,713 (GRCm39) |
D373G |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,087,490 (GRCm39) |
V290A |
probably damaging |
Het |
| Gpr179 |
C |
T |
11: 97,225,757 (GRCm39) |
V2133I |
probably benign |
Het |
| Grb10 |
G |
T |
11: 11,886,798 (GRCm39) |
H435Q |
probably damaging |
Het |
| Gzmm |
T |
C |
10: 79,530,399 (GRCm39) |
I190T |
probably benign |
Het |
| H2-Q3 |
A |
G |
17: 35,578,823 (GRCm39) |
|
noncoding transcript |
Het |
| Hspb7 |
A |
G |
4: 141,151,245 (GRCm39) |
E129G |
probably damaging |
Het |
| Il17ra |
T |
C |
6: 120,449,086 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
A |
G |
11: 104,557,966 (GRCm39) |
T787A |
possibly damaging |
Het |
| Krt4 |
T |
G |
15: 101,831,187 (GRCm39) |
|
probably benign |
Het |
| Lgsn |
C |
T |
1: 31,229,534 (GRCm39) |
T85I |
probably benign |
Het |
| Metap1 |
C |
T |
3: 138,177,918 (GRCm39) |
V217I |
probably benign |
Het |
| Mib2 |
A |
T |
4: 155,743,897 (GRCm39) |
C48* |
probably null |
Het |
| Mroh4 |
T |
A |
15: 74,482,154 (GRCm39) |
I768F |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 54,095,624 (GRCm39) |
D361E |
probably damaging |
Het |
| P4hb |
G |
A |
11: 120,459,092 (GRCm39) |
R134C |
probably damaging |
Het |
| Prr35 |
C |
A |
17: 26,166,956 (GRCm39) |
E194* |
probably null |
Het |
| Rbl1 |
A |
G |
2: 157,017,624 (GRCm39) |
|
probably benign |
Het |
| Rdh10 |
T |
A |
1: 16,178,260 (GRCm39) |
|
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,070,377 (GRCm39) |
I842L |
probably benign |
Het |
| Stk32b |
A |
C |
5: 37,874,092 (GRCm39) |
D13E |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,123,192 (GRCm39) |
D708G |
possibly damaging |
Het |
| Taar6 |
T |
C |
10: 23,861,021 (GRCm39) |
D175G |
probably benign |
Het |
| Tmod4 |
T |
C |
3: 95,037,099 (GRCm39) |
D164G |
possibly damaging |
Het |
| Ttc23l |
A |
C |
15: 10,551,627 (GRCm39) |
L33W |
probably damaging |
Het |
| Ttc39d |
T |
C |
17: 80,523,379 (GRCm39) |
Y13H |
probably benign |
Het |
| Utp18 |
G |
T |
11: 93,766,684 (GRCm39) |
T309K |
probably damaging |
Het |
| Vsig8 |
T |
C |
1: 172,387,925 (GRCm39) |
V5A |
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 |
|
|
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 |
|
|
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 |
|
| Protein Function and Prediction |
Vps11 is a HOPS/C-Vps family gene (1). The function of Vps11 in mammals has not been studied.
In yeast, the C-Vps proteins (Vps11, Vps16, Vps18, and Vps33) interact to form a complex (2). Yeast studies determined that the complex bound to vacuolar t-SNARE proteins to facilitate tethering and membrane fusion of a transport vesicle from the late-Golgi to the yeast vacuole (2;3). Loss of Vps11 in yeast leads to the absence of normal vacuoles and the accumulation of intermediate transport vesicles (2;4). In yeast, it was proposed to function in endosome-to-lysosome and endosome-to-melanosome protein trafficking (2).
In zebrafish, vps11 is ubiquitously expressed during development, with strong expression in the developing retina and retinal pigmented epithelium (RPE) (1). Zebrafish mutants with a mutation in vps11 have reduced pigmentation in the body and RPE (1). Studies with this mutant determined that Vps11 is necessary for melanosome maturation and healthy maintenance of the RPE and photoreceptors (1).
|
| References |
1. Thomas, J. L., Vihtelic, T. S., denDekker, A. D., Willer, G., Luo, X., Murphy, T. R., Gregg, R. G., Hyde, D. R., and Thummel, R. (2011) The Loss of Vacuolar Protein Sorting 11 (vps11) Causes Retinal Pathogenesis in a Vertebrate Model of Syndromic Albinism. Invest Ophthalmol Vis Sci. 52, 3119-3128. |
| Posted On |
2012-12-21 |
| Science Writer |
Anne Murray |
Incidental Mutation