Incidental Mutation 'R2901:Vps51'
| ID |
261485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps51
|
| Ensembl Gene |
ENSMUSG00000024797 |
| Gene Name |
VPS51 GARP complex subunit |
| Synonyms |
3110057M17Rik, 1110014N23Rik |
| MMRRC Submission |
040489-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6117872-6127217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6126468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 95
(R95W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025707]
[ENSMUST00000025711]
[ENSMUST00000143303]
[ENSMUST00000149347]
[ENSMUST00000159832]
[ENSMUST00000160590]
[ENSMUST00000160977]
[ENSMUST00000160233]
|
| 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 |
probably damaging
Transcript: ENSMUST00000025711
AA Change: R95W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025711
Gene: ENSMUSG00000024799
AA Change: R95W
| 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 |
probably damaging
Transcript: ENSMUST00000159832
AA Change: R95W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123994
Gene: ENSMUSG00000024797
AA Change: R95W
| 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 |
probably damaging
Transcript: ENSMUST00000160590
AA Change: R95W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123857
Gene: ENSMUSG00000024797
AA Change: R95W
| 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: 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: ENSMUST00000162374
|
| 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 |
|
| Meta Mutation Damage Score |
0.3049 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
A |
8: 10,038,231 (GRCm39) |
M276K |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,753,259 (GRCm39) |
C3F |
unknown |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
| Cep192 |
C |
T |
18: 68,002,512 (GRCm39) |
R2236C |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,281,972 (GRCm39) |
K139E |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,340,040 (GRCm39) |
E351V |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,467,031 (GRCm39) |
L3611Q |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm3336 |
T |
C |
8: 71,173,275 (GRCm39) |
S96P |
possibly damaging |
Het |
| Gm9845 |
T |
A |
3: 39,412,742 (GRCm39) |
|
noncoding transcript |
Het |
| Klf12 |
G |
T |
14: 100,137,582 (GRCm39) |
F321L |
probably damaging |
Het |
| Klhl20 |
G |
T |
1: 160,937,122 (GRCm39) |
C84* |
probably null |
Het |
| Krt23 |
T |
C |
11: 99,374,797 (GRCm39) |
D260G |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,603,999 (GRCm39) |
K578E |
probably benign |
Het |
| Mgat4f |
T |
C |
1: 134,318,662 (GRCm39) |
L478P |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,333,354 (GRCm39) |
H1345R |
possibly damaging |
Het |
| Nme8 |
A |
T |
13: 19,859,834 (GRCm39) |
V23E |
probably benign |
Het |
| Or10w1 |
C |
T |
19: 13,632,309 (GRCm39) |
P167L |
probably damaging |
Het |
| Or8g34 |
T |
A |
9: 39,373,234 (GRCm39) |
I169N |
probably damaging |
Het |
| Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ptp4a1 |
T |
C |
1: 30,982,385 (GRCm39) |
N142D |
possibly damaging |
Het |
| Simc1 |
G |
A |
13: 54,689,331 (GRCm39) |
|
probably null |
Het |
| Snai2 |
T |
C |
16: 14,523,847 (GRCm39) |
S4P |
possibly damaging |
Het |
| Ssc4d |
G |
A |
5: 135,993,517 (GRCm39) |
P113L |
possibly damaging |
Het |
| Stmn2 |
A |
G |
3: 8,606,981 (GRCm39) |
I34V |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,846,536 (GRCm39) |
S1620P |
possibly damaging |
Het |
| Zup1 |
C |
T |
10: 33,803,608 (GRCm39) |
R492Q |
probably damaging |
Het |
| Zup1 |
T |
C |
10: 33,804,059 (GRCm39) |
T472A |
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 |
|
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'- CAGTGGATTAAGGTTGGGACC -3'
(R):5'- AGTGTGCTACTTAAAGTGTGCC -3'
Sequencing Primer
(F):5'- GGGACCCAATTGTAATCTGGG -3'
(R):5'- CACTTATGGAATTCCTGATAAGGGTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation