Incidental Mutation 'R0239:Vps51'
| ID |
37240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps51
|
| Ensembl Gene |
ENSMUSG00000024797 |
| Gene Name |
VPS51 GARP complex subunit |
| Synonyms |
3110057M17Rik, 1110014N23Rik |
| MMRRC Submission |
038477-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0239 (G1)
|
| Quality Score |
204 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6117872-6127217 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 6121467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 185
(S185*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025711]
[ENSMUST00000025713]
[ENSMUST00000113543]
[ENSMUST00000159084]
[ENSMUST00000159832]
[ENSMUST00000161718]
[ENSMUST00000161090]
[ENSMUST00000161528]
[ENSMUST00000160028]
[ENSMUST00000160233]
[ENSMUST00000160590]
[ENSMUST00000162810]
[ENSMUST00000162575]
|
| AlphaFold |
Q3UVL4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025711
AA Change: S185*
|
| SMART Domains |
Protein: ENSMUSP00000025711
Gene: ENSMUSG00000024799
AA Change: S185*
| 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: ENSMUST00000025713
|
| SMART Domains |
Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERG4_ERG24
|
7 |
418 |
1.6e-141 |
PFAM |
|
Pfam:DUF1295
|
250 |
409 |
9.4e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113543
|
| SMART Domains |
Protein: ENSMUSP00000109171
Gene: ENSMUSG00000024799
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERG4_ERG24
|
7 |
373 |
9.9e-112 |
PFAM |
|
Pfam:DUF1295
|
249 |
396 |
2.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159084
|
| SMART Domains |
Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERG4_ERG24
|
7 |
300 |
6.4e-75 |
PFAM |
|
Pfam:ERG4_ERG24
|
292 |
391 |
2.2e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159211
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159475
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159832
AA Change: S185*
|
| SMART Domains |
Protein: ENSMUSP00000123994
Gene: ENSMUSG00000024797
AA Change: S185*
| 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: ENSMUST00000161222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160519
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159836
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161718
|
| SMART Domains |
Protein: ENSMUSP00000124283
Gene: ENSMUSG00000024799
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERG4_ERG24
|
1 |
197 |
5.7e-86 |
PFAM |
|
Pfam:DUF1295
|
46 |
185 |
1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161090
|
| SMART Domains |
Protein: ENSMUSP00000125543
Gene: ENSMUSG00000024799
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161528
|
| SMART Domains |
Protein: ENSMUSP00000123989
Gene: ENSMUSG00000024799
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERG4_ERG24
|
7 |
109 |
5.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160028
|
| SMART Domains |
Protein: ENSMUSP00000124847
Gene: ENSMUSG00000024799
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160233
|
| SMART Domains |
Protein: ENSMUSP00000124842
Gene: ENSMUSG00000024797
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160590
|
| SMART Domains |
Protein: ENSMUSP00000123857
Gene: ENSMUSG00000024797
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Pfam:Vps51
|
63 |
121 |
2.4e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162721
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162810
|
| SMART Domains |
Protein: ENSMUSP00000124825
Gene: ENSMUSG00000024799
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERG4_ERG24
|
9 |
124 |
6.9e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162575
|
| SMART Domains |
Protein: ENSMUSP00000125586
Gene: ENSMUSG00000024799
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:ERG4_ERG24
|
51 |
229 |
5.5e-59 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.9%
|
| Validation Efficiency |
100% (3/3) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
TTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCC |
3: 137,771,595 (GRCm39) |
|
probably benign |
Het |
| Adra1d |
C |
A |
2: 131,388,134 (GRCm39) |
V474F |
probably benign |
Het |
| Alg8 |
A |
T |
7: 97,032,891 (GRCm39) |
|
probably null |
Het |
| Ash1l |
A |
G |
3: 88,974,529 (GRCm39) |
D2618G |
possibly damaging |
Het |
| Atp6v1c2 |
C |
A |
12: 17,344,676 (GRCm39) |
|
probably null |
Het |
| Cacna1d |
A |
G |
14: 29,845,453 (GRCm39) |
V572A |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,228,187 (GRCm39) |
W882R |
probably damaging |
Het |
| Cd72 |
A |
G |
4: 43,453,163 (GRCm39) |
V91A |
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,586,493 (GRCm39) |
W771R |
probably damaging |
Het |
| Cdx2 |
G |
T |
5: 147,240,097 (GRCm39) |
T193K |
probably damaging |
Het |
| Cfap70 |
A |
C |
14: 20,498,673 (GRCm39) |
S5A |
probably benign |
Het |
| Chmp7 |
A |
G |
14: 69,958,446 (GRCm39) |
V241A |
probably damaging |
Het |
| D3Ertd751e |
A |
G |
3: 41,708,313 (GRCm39) |
Y150C |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,100,584 (GRCm39) |
S832P |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,370,738 (GRCm39) |
S4673G |
probably benign |
Het |
| Dock4 |
G |
T |
12: 40,787,539 (GRCm39) |
S818I |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,041,461 (GRCm39) |
Q156* |
probably null |
Het |
| Elp1 |
C |
A |
4: 56,784,596 (GRCm39) |
V466L |
probably benign |
Het |
| Espnl |
T |
C |
1: 91,250,009 (GRCm39) |
V52A |
probably damaging |
Het |
| Flcn |
T |
C |
11: 59,691,902 (GRCm39) |
N249S |
probably benign |
Het |
| Gemin6 |
C |
A |
17: 80,533,139 (GRCm39) |
A24D |
probably damaging |
Het |
| Gm5773 |
A |
G |
3: 93,681,339 (GRCm39) |
H337R |
probably benign |
Het |
| Hal |
T |
C |
10: 93,339,344 (GRCm39) |
S478P |
possibly damaging |
Het |
| Hectd1 |
T |
A |
12: 51,816,101 (GRCm39) |
M1324L |
possibly damaging |
Het |
| Hyal5 |
T |
A |
6: 24,876,343 (GRCm39) |
L72Q |
probably damaging |
Het |
| Ift140 |
C |
A |
17: 25,264,497 (GRCm39) |
C557* |
probably null |
Het |
| Kbtbd3 |
G |
T |
9: 4,330,144 (GRCm39) |
V173L |
possibly damaging |
Het |
| Kif14 |
A |
G |
1: 136,455,131 (GRCm39) |
E1551G |
probably damaging |
Het |
| Krt17 |
G |
A |
11: 100,151,704 (GRCm39) |
R30* |
probably null |
Het |
| Lamb3 |
A |
T |
1: 193,003,361 (GRCm39) |
D100V |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,455,265 (GRCm39) |
D1385G |
probably damaging |
Het |
| Mettl25 |
C |
T |
10: 105,662,386 (GRCm39) |
V195I |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,192,518 (GRCm39) |
T1466A |
probably benign |
Het |
| Myo3b |
T |
A |
2: 69,935,769 (GRCm39) |
C61S |
probably benign |
Het |
| Nacc2 |
T |
G |
2: 25,952,273 (GRCm39) |
N361T |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,309,400 (GRCm39) |
K438M |
possibly damaging |
Het |
| Nipal4 |
A |
G |
11: 46,041,268 (GRCm39) |
V309A |
possibly damaging |
Het |
| Nomo1 |
T |
C |
7: 45,729,018 (GRCm39) |
|
probably null |
Het |
| Nubp2 |
T |
C |
17: 25,103,445 (GRCm39) |
E144G |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,957,467 (GRCm39) |
I266F |
probably benign |
Het |
| Or12e7 |
T |
C |
2: 87,288,381 (GRCm39) |
F291L |
probably benign |
Het |
| Or2ag1b |
A |
G |
7: 106,288,462 (GRCm39) |
Y159H |
probably benign |
Het |
| Or52s1 |
G |
A |
7: 102,861,933 (GRCm39) |
V289M |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,452,843 (GRCm39) |
|
probably null |
Het |
| Otogl |
T |
A |
10: 107,642,557 (GRCm39) |
N1291I |
probably damaging |
Het |
| Pah |
C |
T |
10: 87,403,143 (GRCm39) |
P173S |
possibly damaging |
Het |
| Pga5 |
A |
G |
19: 10,646,817 (GRCm39) |
Y305H |
probably damaging |
Het |
| Plekha4 |
A |
G |
7: 45,181,782 (GRCm39) |
H62R |
probably damaging |
Het |
| Plxnd1 |
G |
T |
6: 115,945,754 (GRCm39) |
D906E |
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,256,927 (GRCm39) |
E98G |
possibly damaging |
Het |
| Ptk2 |
A |
T |
15: 73,215,132 (GRCm39) |
|
probably null |
Het |
| Raet1e |
C |
A |
10: 22,056,761 (GRCm39) |
H112Q |
possibly damaging |
Het |
| Scai |
T |
A |
2: 38,965,054 (GRCm39) |
I597F |
probably benign |
Het |
| Sirpd |
A |
G |
3: 15,361,661 (GRCm39) |
L163P |
probably damaging |
Het |
| Slc35c2 |
C |
T |
2: 165,122,757 (GRCm39) |
G176S |
probably damaging |
Het |
| Slc35f4 |
A |
T |
14: 49,541,713 (GRCm39) |
I347N |
possibly damaging |
Het |
| Slc52a3 |
T |
C |
2: 151,850,076 (GRCm39) |
*461Q |
probably null |
Het |
| Slc6a1 |
G |
A |
6: 114,279,761 (GRCm39) |
V142I |
probably benign |
Het |
| Tbc1d31 |
C |
A |
15: 57,804,149 (GRCm39) |
T388N |
probably benign |
Het |
| Tmem63c |
T |
C |
12: 87,122,413 (GRCm39) |
W404R |
probably damaging |
Het |
| Tmem79 |
A |
G |
3: 88,240,628 (GRCm39) |
S107P |
probably benign |
Het |
| Trip11 |
C |
T |
12: 101,850,987 (GRCm39) |
E741K |
probably damaging |
Het |
| Trpm5 |
G |
T |
7: 142,636,695 (GRCm39) |
T414N |
probably damaging |
Het |
| Tsnaxip1 |
T |
A |
8: 106,571,120 (GRCm39) |
I660N |
possibly damaging |
Het |
| Ube2q2 |
T |
C |
9: 55,070,291 (GRCm39) |
S78P |
probably damaging |
Het |
| Vac14 |
A |
T |
8: 111,362,007 (GRCm39) |
|
probably null |
Het |
| Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
| Zfp532 |
A |
T |
18: 65,816,056 (GRCm39) |
I810F |
possibly damaging |
Het |
| Zfp599 |
C |
T |
9: 22,161,055 (GRCm39) |
C370Y |
probably damaging |
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 |
|
|
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 |
|
R3717:Vps51
|
UTSW |
19 |
6,127,198 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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'- TTTGGAGAACAATGACCAGGCCC -3'
(R):5'- GCTCAACTCTTGCCCATCTAGACAC -3'
Sequencing Primer
(F):5'- TGACCAGGCCCGGAAAC -3'
(R):5'- ACTTCAGCGCACGGATCAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation