Incidental Mutation 'R5857:Vps18'
| ID |
454938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps18
|
| Ensembl Gene |
ENSMUSG00000034216 |
| Gene Name |
VPS18 CORVET/HOPS core subunit |
| Synonyms |
9930024E13Rik |
| MMRRC Submission |
044069-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5857 (G1)
|
| Quality Score |
158 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119119221-119128934 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119128014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 946
(Y946H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037280]
|
| AlphaFold |
Q8R307 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037280
AA Change: Y946H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036915
Gene: ENSMUSG00000034216
AA Change: Y946H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep3_Vps18
|
291 |
435 |
2.4e-41 |
PFAM |
|
low complexity region
|
486 |
500 |
N/A |
INTRINSIC |
|
Pfam:Clathrin
|
619 |
771 |
5.9e-11 |
PFAM |
|
coiled coil region
|
803 |
845 |
N/A |
INTRINSIC |
|
Blast:RING
|
853 |
947 |
3e-47 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139367
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151500
|
| Meta Mutation Damage Score |
0.6277 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
95% (55/58) |
| 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 Vps18 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele exhibit preweaning lethality. Mice homozygous for a conditional allele activated in the nervous system exhibit impaired neuron migration and neurodegeneration associated with increased apoptosis and impaired autophagy and endocytosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,203,369 (GRCm39) |
I266V |
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,039,736 (GRCm39) |
A492T |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,190,840 (GRCm39) |
C415S |
probably benign |
Het |
| Anxa3 |
T |
A |
5: 96,976,651 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
C |
12: 8,065,397 (GRCm39) |
V4089A |
probably benign |
Het |
| Arhgap23 |
C |
T |
11: 97,342,405 (GRCm39) |
A229V |
possibly damaging |
Het |
| Atad5 |
T |
C |
11: 80,022,155 (GRCm39) |
F1447L |
probably benign |
Het |
| Btbd8 |
T |
A |
5: 107,609,398 (GRCm39) |
D212E |
probably damaging |
Het |
| Ccdc38 |
G |
T |
10: 93,398,695 (GRCm39) |
A58S |
possibly damaging |
Het |
| Cep112 |
T |
C |
11: 108,422,297 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
G |
A |
8: 11,475,442 (GRCm39) |
G622D |
probably damaging |
Het |
| Crhbp |
T |
A |
13: 95,578,740 (GRCm39) |
Q134L |
probably benign |
Het |
| Ctnnbl1 |
T |
C |
2: 157,631,018 (GRCm39) |
S145P |
probably damaging |
Het |
| Cyp4f16 |
T |
A |
17: 32,755,998 (GRCm39) |
L9Q |
probably damaging |
Het |
| Dchs2 |
T |
G |
3: 83,177,620 (GRCm39) |
I891S |
possibly damaging |
Het |
| Disp3 |
A |
T |
4: 148,333,640 (GRCm39) |
V1066D |
probably benign |
Het |
| Dlgap1 |
A |
G |
17: 71,122,388 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,412,397 (GRCm39) |
C929S |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,483,239 (GRCm39) |
F82S |
probably damaging |
Het |
| Gk5 |
C |
A |
9: 96,001,508 (GRCm39) |
S2* |
probably null |
Het |
| Gpr135 |
G |
A |
12: 72,117,614 (GRCm39) |
A51V |
probably benign |
Het |
| Hoxa9 |
T |
A |
6: 52,201,277 (GRCm39) |
N255Y |
probably damaging |
Het |
| Igkv8-18 |
T |
C |
6: 70,332,904 (GRCm39) |
V15A |
probably benign |
Het |
| Ism2 |
T |
C |
12: 87,326,835 (GRCm39) |
D368G |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,530 (GRCm39) |
S146T |
unknown |
Het |
| Lama1 |
T |
A |
17: 68,114,838 (GRCm39) |
L2329H |
probably damaging |
Het |
| Llgl2 |
T |
A |
11: 115,741,107 (GRCm39) |
I507N |
probably damaging |
Het |
| Lmna |
GCTGCCCACAC |
GC |
3: 88,389,838 (GRCm39) |
|
probably benign |
Het |
| Lrfn3 |
A |
T |
7: 30,058,863 (GRCm39) |
I454N |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,670,646 (GRCm39) |
T437K |
probably benign |
Het |
| Nat8f3 |
T |
C |
6: 85,738,735 (GRCm39) |
Y9C |
probably damaging |
Het |
| Niban2 |
T |
A |
2: 32,799,920 (GRCm39) |
N82K |
probably benign |
Het |
| Nlrp4d |
C |
A |
7: 10,116,304 (GRCm39) |
G156V |
noncoding transcript |
Het |
| Npnt |
A |
T |
3: 132,614,110 (GRCm39) |
C167S |
probably damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,635,496 (GRCm39) |
N199S |
possibly damaging |
Het |
| Or10x4 |
T |
G |
1: 174,218,674 (GRCm39) |
I13R |
possibly damaging |
Het |
| Or8b12i |
C |
T |
9: 20,082,535 (GRCm39) |
D111N |
probably damaging |
Het |
| Or8b37 |
T |
G |
9: 37,959,049 (GRCm39) |
V177G |
probably benign |
Het |
| Pabpc1l |
T |
A |
2: 163,886,175 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,176,848 (GRCm39) |
I366T |
probably benign |
Het |
| Prl7a1 |
A |
T |
13: 27,824,684 (GRCm39) |
D50E |
probably damaging |
Het |
| Rad52 |
T |
G |
6: 119,887,968 (GRCm39) |
|
probably null |
Het |
| Rbm19 |
T |
A |
5: 120,271,007 (GRCm39) |
L610Q |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Scube1 |
G |
T |
15: 83,491,461 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
G |
T |
7: 27,118,138 (GRCm39) |
R314S |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 65,042,331 (GRCm39) |
I1130K |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,818,981 (GRCm39) |
E1352G |
probably damaging |
Het |
| Ube2d2a |
A |
G |
18: 35,938,596 (GRCm39) |
T142A |
probably benign |
Het |
|
| Other mutations in Vps18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01627:Vps18
|
APN |
2 |
119,127,672 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02311:Vps18
|
APN |
2 |
119,120,732 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02332:Vps18
|
APN |
2 |
119,124,291 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03089:Vps18
|
APN |
2 |
119,123,658 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03114:Vps18
|
APN |
2 |
119,124,132 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03334:Vps18
|
APN |
2 |
119,127,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Vps18
|
UTSW |
2 |
119,127,709 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0311:Vps18
|
UTSW |
2 |
119,127,846 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0346:Vps18
|
UTSW |
2 |
119,127,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0373:Vps18
|
UTSW |
2 |
119,124,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0637:Vps18
|
UTSW |
2 |
119,124,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1493:Vps18
|
UTSW |
2 |
119,127,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1703:Vps18
|
UTSW |
2 |
119,119,538 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1734:Vps18
|
UTSW |
2 |
119,124,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4297:Vps18
|
UTSW |
2 |
119,127,812 (GRCm39) |
nonsense |
probably null |
|
|
R4633:Vps18
|
UTSW |
2 |
119,123,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Vps18
|
UTSW |
2 |
119,124,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5034:Vps18
|
UTSW |
2 |
119,123,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5162:Vps18
|
UTSW |
2 |
119,123,423 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5320:Vps18
|
UTSW |
2 |
119,127,858 (GRCm39) |
nonsense |
probably null |
|
|
R6105:Vps18
|
UTSW |
2 |
119,119,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6150:Vps18
|
UTSW |
2 |
119,128,073 (GRCm39) |
nonsense |
probably null |
|
|
R7934:Vps18
|
UTSW |
2 |
119,124,122 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8018:Vps18
|
UTSW |
2 |
119,124,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8147:Vps18
|
UTSW |
2 |
119,123,237 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8401:Vps18
|
UTSW |
2 |
119,127,973 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8525:Vps18
|
UTSW |
2 |
119,120,711 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9044:Vps18
|
UTSW |
2 |
119,128,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9719:Vps18
|
UTSW |
2 |
119,127,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF002:Vps18
|
UTSW |
2 |
119,127,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7583:Vps18
|
UTSW |
2 |
119,127,709 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACAAGCAGGCCAGACTTG -3'
(R):5'- TGAAAACCTCCCGGCTGAAG -3'
Sequencing Primer
(F):5'- CCAGACTTGAGGAACTGCAGC -3'
(R):5'- AAGCTTGGCTGCAACCC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation