Incidental Mutation 'R3717:Vps51'
ID |
259978 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vps51
|
Ensembl Gene |
ENSMUSG00000024797 |
Gene Name |
VPS51 GARP complex subunit |
Synonyms |
3110057M17Rik, 1110014N23Rik |
MMRRC Submission |
040709-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3717 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6117872-6127217 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
G to A
at 6127198 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025707]
[ENSMUST00000025711]
[ENSMUST00000143303]
[ENSMUST00000149347]
[ENSMUST00000159832]
[ENSMUST00000160590]
[ENSMUST00000160233]
[ENSMUST00000160977]
[ENSMUST00000161548]
|
AlphaFold |
Q3UVL4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025707
|
SMART Domains |
Protein: ENSMUSP00000025707 Gene: ENSMUSG00000024792
Domain | Start | End | E-Value | Type |
RING
|
53 |
100 |
1.14e-1 |
SMART |
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
low complexity region
|
184 |
193 |
N/A |
INTRINSIC |
transmembrane domain
|
265 |
287 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000025711
AA Change: A4V
|
SMART Domains |
Protein: ENSMUSP00000025711 Gene: ENSMUSG00000024799 AA Change: A4V
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
Pfam:COG2
|
56 |
191 |
2.6e-10 |
PFAM |
Pfam:DUF2450
|
62 |
250 |
2.3e-14 |
PFAM |
Pfam:Vps51
|
63 |
149 |
1.1e-26 |
PFAM |
Pfam:Dor1
|
75 |
246 |
1.8e-19 |
PFAM |
Pfam:Zw10
|
83 |
291 |
2.2e-8 |
PFAM |
Pfam:Sec5
|
101 |
275 |
6.5e-24 |
PFAM |
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
low complexity region
|
523 |
532 |
N/A |
INTRINSIC |
low complexity region
|
743 |
758 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143303
|
SMART Domains |
Protein: ENSMUSP00000121339 Gene: ENSMUSG00000047733
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
transmembrane domain
|
82 |
99 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149347
|
SMART Domains |
Protein: ENSMUSP00000116436 Gene: ENSMUSG00000047733
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159211
|
Predicted Effect |
unknown
Transcript: ENSMUST00000159832
AA Change: A4V
|
SMART Domains |
Protein: ENSMUSP00000123994 Gene: ENSMUSG00000024797 AA Change: A4V
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
Pfam:COG2
|
56 |
191 |
2e-10 |
PFAM |
Pfam:DUF2450
|
62 |
250 |
1.9e-14 |
PFAM |
Pfam:Vps51
|
63 |
149 |
8.3e-27 |
PFAM |
Pfam:Dor1
|
75 |
246 |
1.8e-19 |
PFAM |
Pfam:Sec5
|
101 |
275 |
1.6e-19 |
PFAM |
low complexity region
|
276 |
292 |
N/A |
INTRINSIC |
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
low complexity region
|
523 |
532 |
N/A |
INTRINSIC |
low complexity region
|
743 |
758 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160131
|
Predicted Effect |
unknown
Transcript: ENSMUST00000160590
AA Change: A4V
|
SMART Domains |
Protein: ENSMUSP00000123857 Gene: ENSMUSG00000024797 AA Change: A4V
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
Pfam:Vps51
|
63 |
121 |
2.4e-18 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000160233
AA Change: A4V
|
SMART Domains |
Protein: ENSMUSP00000124842 Gene: ENSMUSG00000024797 AA Change: A4V
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160519
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160977
|
SMART Domains |
Protein: ENSMUSP00000125176 Gene: ENSMUSG00000024792
Domain | Start | End | E-Value | Type |
RING
|
53 |
100 |
1.14e-1 |
SMART |
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
low complexity region
|
184 |
193 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161548
|
SMART Domains |
Protein: ENSMUSP00000125459 Gene: ENSMUSG00000024792
Domain | Start | End | E-Value | Type |
RING
|
53 |
100 |
1.14e-1 |
SMART |
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
low complexity region
|
184 |
193 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162374
|
Meta Mutation Damage Score |
0.1035 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd10 |
C |
T |
16: 45,552,137 (GRCm39) |
W245* |
probably null |
Het |
Alas2 |
T |
C |
X: 149,343,726 (GRCm39) |
|
probably benign |
Het |
Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
Bpifb6 |
A |
G |
2: 153,750,061 (GRCm39) |
|
probably benign |
Het |
Cmtr2 |
T |
C |
8: 110,948,386 (GRCm39) |
V232A |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,228,995 (GRCm39) |
M2031K |
probably benign |
Het |
Dnajc10 |
A |
G |
2: 80,155,089 (GRCm39) |
|
probably benign |
Het |
Fetub |
T |
A |
16: 22,754,443 (GRCm39) |
C217S |
probably damaging |
Het |
Fgfr2 |
G |
A |
7: 129,784,487 (GRCm39) |
T270M |
probably damaging |
Het |
Hoxd10 |
C |
T |
2: 74,524,474 (GRCm39) |
T262I |
probably damaging |
Het |
Htt |
G |
A |
5: 34,968,866 (GRCm39) |
|
probably benign |
Het |
Kbtbd3 |
A |
T |
9: 4,330,598 (GRCm39) |
H324L |
probably benign |
Het |
Mink1 |
T |
A |
11: 70,498,587 (GRCm39) |
L584Q |
probably damaging |
Het |
Mtrex |
A |
G |
13: 113,032,129 (GRCm39) |
F561S |
probably damaging |
Het |
Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
Nxpe5 |
T |
C |
5: 138,249,886 (GRCm39) |
S559P |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,973,487 (GRCm39) |
C2157Y |
probably damaging |
Het |
Or10q12 |
A |
G |
19: 13,746,428 (GRCm39) |
R241G |
probably damaging |
Het |
Or9k2b |
T |
A |
10: 130,016,369 (GRCm39) |
I127F |
possibly damaging |
Het |
Ptx3 |
G |
T |
3: 66,132,376 (GRCm39) |
S299I |
probably benign |
Het |
Rbbp4 |
T |
A |
4: 129,222,425 (GRCm39) |
D89V |
probably benign |
Het |
Rfx4 |
A |
G |
10: 84,716,088 (GRCm39) |
E375G |
probably damaging |
Het |
Senp7 |
T |
A |
16: 55,999,420 (GRCm39) |
|
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,123,414 (GRCm39) |
V725A |
probably benign |
Het |
Skint10 |
A |
T |
4: 112,603,936 (GRCm39) |
W84R |
probably damaging |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Spata18 |
A |
T |
5: 73,824,193 (GRCm39) |
|
probably null |
Het |
St8sia6 |
T |
C |
2: 13,661,745 (GRCm39) |
N362S |
possibly damaging |
Het |
Tmub2 |
G |
T |
11: 102,175,887 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,775,054 (GRCm39) |
D1996G |
possibly damaging |
Het |
Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
Vdac1 |
A |
G |
11: 52,267,473 (GRCm39) |
|
probably null |
Het |
Zfp90 |
A |
G |
8: 107,150,682 (GRCm39) |
R132G |
probably benign |
Het |
|
Other mutations in Vps51 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03095:Vps51
|
APN |
19 |
6,120,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R0238:Vps51
|
UTSW |
19 |
6,121,467 (GRCm39) |
nonsense |
probably null |
|
R0238:Vps51
|
UTSW |
19 |
6,121,467 (GRCm39) |
nonsense |
probably null |
|
R0239:Vps51
|
UTSW |
19 |
6,121,467 (GRCm39) |
nonsense |
probably null |
|
R0239:Vps51
|
UTSW |
19 |
6,121,467 (GRCm39) |
nonsense |
probably null |
|
R1533:Vps51
|
UTSW |
19 |
6,121,497 (GRCm39) |
missense |
probably benign |
0.04 |
R1909:Vps51
|
UTSW |
19 |
6,119,499 (GRCm39) |
missense |
probably benign |
0.03 |
R2022:Vps51
|
UTSW |
19 |
6,121,612 (GRCm39) |
missense |
probably benign |
0.02 |
R2146:Vps51
|
UTSW |
19 |
6,118,164 (GRCm39) |
missense |
probably benign |
0.25 |
R2148:Vps51
|
UTSW |
19 |
6,118,164 (GRCm39) |
missense |
probably benign |
0.25 |
R2149:Vps51
|
UTSW |
19 |
6,118,164 (GRCm39) |
missense |
probably benign |
0.25 |
R2901:Vps51
|
UTSW |
19 |
6,126,468 (GRCm39) |
missense |
probably damaging |
0.99 |
R3769:Vps51
|
UTSW |
19 |
6,126,378 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5192:Vps51
|
UTSW |
19 |
6,120,497 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5210:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5256:Vps51
|
UTSW |
19 |
6,120,518 (GRCm39) |
missense |
probably benign |
0.00 |
R5260:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5261:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5274:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5294:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5295:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5389:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5391:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5392:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5393:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5421:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5422:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5497:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5498:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5499:Vps51
|
UTSW |
19 |
6,121,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5671:Vps51
|
UTSW |
19 |
6,118,224 (GRCm39) |
missense |
probably benign |
0.18 |
R5963:Vps51
|
UTSW |
19 |
6,118,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R5989:Vps51
|
UTSW |
19 |
6,126,402 (GRCm39) |
missense |
probably damaging |
0.96 |
R6427:Vps51
|
UTSW |
19 |
6,120,947 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7247:Vps51
|
UTSW |
19 |
6,127,419 (GRCm39) |
utr 3 prime |
probably benign |
|
R9344:Vps51
|
UTSW |
19 |
6,126,345 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAAACTTCCGGGTCGAAGTG -3'
(R):5'- AAGTTCAGTGAAACCTCTGTGC -3'
Sequencing Primer
(F):5'- AAGTGCGCCCCATTGAGATC -3'
(R):5'- AGTGAAACCTCTGTGCTCCAG -3'
|
Posted On |
2015-01-23 |