Incidental Mutation 'R0714:Vps11'
| ID |
85911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps11
|
| Ensembl Gene |
ENSMUSG00000032127 |
| Gene Name |
VPS11, CORVET/HOPS core subunit |
| Synonyms |
1200011A11Rik |
| MMRRC Submission |
038897-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0714 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44259046-44272967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44270953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 143
(V143A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034644]
[ENSMUST00000213249]
[ENSMUST00000213740]
[ENSMUST00000214510]
|
| AlphaFold |
Q91W86 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034644
AA Change: V143A
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034644
Gene: ENSMUSG00000032127
AA Change: V143A
| 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 |
noncoding transcript
Transcript: ENSMUST00000157403
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213249
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214460
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214510
AA Change: V143A
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216089
|
| Meta Mutation Damage Score |
0.0693 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
100% (52/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17b |
G |
A |
19: 21,655,973 (GRCm39) |
R85H |
probably damaging |
Het |
| Adamts13 |
A |
G |
2: 26,876,997 (GRCm39) |
|
probably benign |
Het |
| Alb |
T |
C |
5: 90,610,665 (GRCm39) |
S82P |
possibly damaging |
Het |
| Arhgap10 |
G |
A |
8: 78,078,316 (GRCm39) |
|
probably benign |
Het |
| Aspscr1 |
T |
A |
11: 120,594,493 (GRCm39) |
|
probably null |
Het |
| Capn3 |
A |
T |
2: 120,322,361 (GRCm39) |
Q359L |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,396,047 (GRCm39) |
D646V |
possibly damaging |
Het |
| Ccr2 |
G |
A |
9: 123,905,966 (GRCm39) |
G82D |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,895,102 (GRCm39) |
|
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,064,499 (GRCm39) |
V58A |
possibly damaging |
Het |
| Dhx35 |
C |
A |
2: 158,686,103 (GRCm39) |
Q593K |
probably benign |
Het |
| Dmd |
T |
C |
X: 83,353,503 (GRCm39) |
L2240P |
probably benign |
Het |
| Emc7 |
A |
G |
2: 112,293,277 (GRCm39) |
N162S |
possibly damaging |
Het |
| Exoc7 |
A |
T |
11: 116,184,120 (GRCm39) |
N483K |
probably benign |
Het |
| Fbxo34 |
T |
C |
14: 47,767,486 (GRCm39) |
V282A |
probably damaging |
Het |
| Fndc3c1 |
A |
T |
X: 105,468,972 (GRCm39) |
Y1087* |
probably null |
Het |
| Kat2a |
A |
G |
11: 100,602,178 (GRCm39) |
V192A |
probably damaging |
Het |
| Larp7 |
T |
C |
3: 127,340,833 (GRCm39) |
D64G |
probably damaging |
Het |
| Lnx1 |
A |
G |
5: 74,768,570 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Nckipsd |
C |
A |
9: 108,691,333 (GRCm39) |
|
probably benign |
Het |
| Ndufab1 |
A |
G |
7: 121,695,960 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
G |
A |
9: 72,638,728 (GRCm39) |
|
probably benign |
Het |
| Nrsn2 |
G |
A |
2: 152,216,042 (GRCm39) |
R54* |
probably null |
Het |
| Nt5dc3 |
T |
A |
10: 86,648,238 (GRCm39) |
V171E |
probably damaging |
Het |
| Nudt8 |
A |
G |
19: 4,052,023 (GRCm39) |
*211W |
probably null |
Het |
| Nxph4 |
A |
G |
10: 127,362,808 (GRCm39) |
S28P |
probably damaging |
Het |
| Or4f14b |
A |
G |
2: 111,774,898 (GRCm39) |
V301A |
probably benign |
Het |
| Or8k17 |
A |
C |
2: 86,066,498 (GRCm39) |
L227R |
probably damaging |
Het |
| Or9g4b |
A |
G |
2: 85,616,743 (GRCm39) |
D296G |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,674 (GRCm39) |
Y302C |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,699,712 (GRCm39) |
S2075P |
possibly damaging |
Het |
| Sdhc |
A |
T |
1: 170,957,488 (GRCm39) |
|
probably benign |
Het |
| Sidt2 |
A |
G |
9: 45,858,358 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,818,736 (GRCm39) |
M413V |
probably benign |
Het |
| Slc5a4b |
A |
G |
10: 75,917,341 (GRCm39) |
F232L |
probably benign |
Het |
| Slx1b |
A |
T |
7: 126,291,620 (GRCm39) |
I148N |
probably damaging |
Het |
| Spag17 |
C |
G |
3: 99,987,472 (GRCm39) |
S1587R |
probably damaging |
Het |
| St13 |
T |
C |
15: 81,267,228 (GRCm39) |
D74G |
probably benign |
Het |
| St7l |
G |
A |
3: 104,782,244 (GRCm39) |
R207H |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tacc3 |
T |
C |
5: 33,828,741 (GRCm39) |
|
probably benign |
Het |
| Tbx22 |
G |
A |
X: 106,728,731 (GRCm39) |
V421I |
probably benign |
Het |
| Tmc3 |
G |
A |
7: 83,265,969 (GRCm39) |
A705T |
possibly damaging |
Het |
| Tmem130 |
C |
T |
5: 144,674,619 (GRCm39) |
V369M |
probably damaging |
Het |
| Tonsl |
T |
C |
15: 76,517,921 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,815,451 (GRCm39) |
I1179N |
possibly damaging |
Het |
| Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
| Utp23 |
T |
G |
15: 51,745,665 (GRCm39) |
V55G |
possibly damaging |
Het |
| Vps50 |
G |
T |
6: 3,571,105 (GRCm39) |
V618F |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAACAGTGGCAGCACGTATCAAC -3'
(R):5'- AGCAGCACAATATTCTGGCATCGG -3'
Sequencing Primer
(F):5'- gctcacaactgcctgtaactc -3'
(R):5'- AGGGTATTAACCCTCTGGTAAGTCC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation