Incidental Mutation 'R0966:Vps36'
| ID |
84057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps36
|
| Ensembl Gene |
ENSMUSG00000031479 |
| Gene Name |
vacuolar protein sorting 36 |
| Synonyms |
2210415M20Rik, 1700010A24Rik, 2810408E15Rik, Eap45 |
| MMRRC Submission |
039095-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R0966 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
22682825-22710859 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 22696833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 131
(W131*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033866]
|
| AlphaFold |
Q91XD6 |
| PDB Structure |
The complex structure between the mouse EAP45-GLUE domain and ubiquitin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000033866
AA Change: W131*
|
| SMART Domains |
Protein: ENSMUSP00000033866
Gene: ENSMUSG00000031479
AA Change: W131*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps36_ESCRT-II
|
2 |
88 |
1e-19 |
PFAM |
|
Pfam:EAP30
|
154 |
369 |
1.4e-46 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
T |
A |
16: 88,504,310 (GRCm39) |
R162S |
probably damaging |
Het |
| Arhgef10 |
T |
G |
8: 14,990,343 (GRCm39) |
S272A |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,915,538 (GRCm39) |
S676R |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
| Flrt2 |
T |
C |
12: 95,747,075 (GRCm39) |
V471A |
possibly damaging |
Het |
| Fzd8 |
A |
T |
18: 9,214,745 (GRCm39) |
E609V |
probably damaging |
Het |
| Gm10110 |
A |
C |
14: 90,135,555 (GRCm39) |
|
noncoding transcript |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Igf2bp2 |
C |
T |
16: 21,907,840 (GRCm39) |
R19Q |
probably damaging |
Het |
| Mmp16 |
C |
G |
4: 18,115,930 (GRCm39) |
N511K |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,131,816 (GRCm39) |
H460R |
probably damaging |
Het |
| Or52a5 |
T |
A |
7: 103,426,656 (GRCm39) |
T299S |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,112,504 (GRCm39) |
F594L |
probably damaging |
Het |
| Prkca |
T |
A |
11: 107,905,110 (GRCm39) |
K209N |
possibly damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,673,299 (GRCm39) |
F413S |
probably benign |
Het |
| Ugt1a6b |
G |
A |
1: 88,034,850 (GRCm39) |
V63I |
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Wdr3 |
A |
T |
3: 100,068,385 (GRCm39) |
V41E |
probably damaging |
Het |
|
| Other mutations in Vps36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02577:Vps36
|
APN |
8 |
22,701,632 (GRCm39) |
nonsense |
probably null |
|
|
IGL03035:Vps36
|
APN |
8 |
22,708,431 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0270:Vps36
|
UTSW |
8 |
22,700,472 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0532:Vps36
|
UTSW |
8 |
22,708,261 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1452:Vps36
|
UTSW |
8 |
22,708,226 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1880:Vps36
|
UTSW |
8 |
22,703,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2127:Vps36
|
UTSW |
8 |
22,708,305 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2128:Vps36
|
UTSW |
8 |
22,708,305 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3708:Vps36
|
UTSW |
8 |
22,682,899 (GRCm39) |
missense |
probably benign |
|
|
R4583:Vps36
|
UTSW |
8 |
22,708,436 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4917:Vps36
|
UTSW |
8 |
22,708,280 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6354:Vps36
|
UTSW |
8 |
22,695,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Vps36
|
UTSW |
8 |
22,692,320 (GRCm39) |
missense |
probably benign |
|
|
R7207:Vps36
|
UTSW |
8 |
22,701,623 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8251:Vps36
|
UTSW |
8 |
22,682,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Vps36
|
UTSW |
8 |
22,682,846 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATTCACTTCAGTTCCACTCACA -3'
(R):5'- AGGCACAGAGATGAAAACACTGTACC -3'
Sequencing Primer
(F):5'- tgtgtgtgtgtgtgtTCTGAC -3'
(R):5'- ttgggaggctcaggtagg -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation