Incidental Mutation 'R5671:Vps51'
ID |
442652 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vps51
|
Ensembl Gene |
ENSMUSG00000024797 |
Gene Name |
VPS51 GARP complex subunit |
Synonyms |
3110057M17Rik, 1110014N23Rik |
MMRRC Submission |
043314-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5671 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6117872-6127217 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6118224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 757
(V757A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123994
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025711]
[ENSMUST00000025713]
[ENSMUST00000113543]
[ENSMUST00000159084]
[ENSMUST00000159832]
[ENSMUST00000160028]
[ENSMUST00000161528]
[ENSMUST00000160233]
[ENSMUST00000161090]
[ENSMUST00000161718]
[ENSMUST00000162810]
[ENSMUST00000162575]
|
AlphaFold |
Q3UVL4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025711
AA Change: V757A
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000025711 Gene: ENSMUSG00000024799 AA Change: V757A
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 benign
Transcript: ENSMUST00000159832
AA Change: V757A
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000123994 Gene: ENSMUSG00000024797 AA Change: V757A
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: ENSMUST00000160324
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160519
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161634
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161222
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160417
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162549
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160354
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159836
|
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: 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: 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: 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: 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 |
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 |
0.0604 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (57/57) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Ak2 |
T |
A |
4: 128,902,040 (GRCm39) |
F238I |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,557,266 (GRCm39) |
Y115C |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,606,190 (GRCm39) |
N2613K |
possibly damaging |
Het |
Antxr1 |
C |
T |
6: 87,194,255 (GRCm39) |
|
probably null |
Het |
Ap3b1 |
A |
T |
13: 94,664,765 (GRCm39) |
R901S |
unknown |
Het |
Arhgap45 |
A |
G |
10: 79,861,310 (GRCm39) |
E491G |
probably damaging |
Het |
Capn11 |
C |
T |
17: 45,950,600 (GRCm39) |
R293Q |
possibly damaging |
Het |
Cdx1 |
C |
T |
18: 61,152,971 (GRCm39) |
V212I |
probably benign |
Het |
Clca4b |
G |
A |
3: 144,627,624 (GRCm39) |
T449I |
probably benign |
Het |
Clec14a |
T |
C |
12: 58,314,612 (GRCm39) |
I337V |
probably benign |
Het |
Clip4 |
A |
C |
17: 72,096,878 (GRCm39) |
M1L |
probably damaging |
Het |
Exoc3l4 |
T |
C |
12: 111,389,851 (GRCm39) |
I142T |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,890,843 (GRCm38) |
I575N |
probably benign |
Het |
Gad1-ps |
A |
T |
10: 99,280,395 (GRCm39) |
|
noncoding transcript |
Het |
Golga7 |
C |
T |
8: 23,740,360 (GRCm39) |
A57T |
probably damaging |
Het |
Gpa33 |
A |
G |
1: 165,974,360 (GRCm39) |
T66A |
possibly damaging |
Het |
Gpr141b |
A |
G |
13: 19,913,465 (GRCm39) |
|
noncoding transcript |
Het |
Gpr45 |
A |
G |
1: 43,072,218 (GRCm39) |
Y287C |
probably damaging |
Het |
H2-Eb1 |
C |
A |
17: 34,533,229 (GRCm39) |
Y150* |
probably null |
Het |
Hsd17b8 |
T |
C |
17: 34,245,435 (GRCm39) |
D233G |
probably null |
Het |
Ifna6 |
A |
T |
4: 88,745,906 (GRCm39) |
Q85L |
probably damaging |
Het |
Igkv9-120 |
G |
A |
6: 68,027,257 (GRCm39) |
W57* |
probably null |
Het |
Ivns1abp |
G |
T |
1: 151,229,760 (GRCm39) |
L149F |
probably benign |
Het |
Kank4 |
A |
G |
4: 98,653,698 (GRCm39) |
|
probably null |
Het |
Lama2 |
A |
T |
10: 27,066,540 (GRCm39) |
C1114S |
probably damaging |
Het |
Lmbr1l |
A |
C |
15: 98,805,489 (GRCm39) |
D337E |
possibly damaging |
Het |
Ly75 |
T |
C |
2: 60,138,655 (GRCm39) |
D1404G |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,575,011 (GRCm39) |
T1199A |
probably benign |
Het |
Nalcn |
A |
G |
14: 123,532,818 (GRCm39) |
I1314T |
probably damaging |
Het |
Nhlrc1 |
A |
G |
13: 47,167,193 (GRCm39) |
F355L |
probably benign |
Het |
Or2y16 |
T |
C |
11: 49,335,140 (GRCm39) |
V154A |
probably benign |
Het |
Or4k39 |
C |
T |
2: 111,238,818 (GRCm39) |
|
noncoding transcript |
Het |
Or5b21 |
A |
T |
19: 12,839,171 (GRCm39) |
T11S |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,246,026 (GRCm39) |
T135A |
possibly damaging |
Het |
Ptpru |
T |
A |
4: 131,547,501 (GRCm39) |
Y112F |
possibly damaging |
Het |
Rbbp8 |
A |
G |
18: 11,875,699 (GRCm39) |
S871G |
probably benign |
Het |
Rhoj |
A |
T |
12: 75,440,743 (GRCm39) |
I135F |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Semp2l2b |
T |
A |
10: 21,942,742 (GRCm39) |
T413S |
possibly damaging |
Het |
Ska1 |
G |
T |
18: 74,330,067 (GRCm39) |
D224E |
probably damaging |
Het |
Slc11a2 |
A |
G |
15: 100,301,169 (GRCm39) |
Y295H |
probably damaging |
Het |
Slc22a28 |
A |
T |
19: 8,108,795 (GRCm39) |
C116S |
probably damaging |
Het |
Synpo |
T |
C |
18: 60,729,022 (GRCm39) |
D1060G |
probably damaging |
Het |
Tectb |
T |
C |
19: 55,181,059 (GRCm39) |
S310P |
probably benign |
Het |
Tmc6 |
A |
G |
11: 117,666,441 (GRCm39) |
S288P |
possibly damaging |
Het |
Tpo |
A |
G |
12: 30,169,490 (GRCm39) |
S82P |
probably benign |
Het |
Ttyh3 |
T |
A |
5: 140,617,307 (GRCm39) |
M321L |
probably benign |
Het |
Usp8 |
A |
G |
2: 126,584,345 (GRCm39) |
D518G |
probably benign |
Het |
Vmn2r11 |
A |
G |
5: 109,202,772 (GRCm39) |
W102R |
probably benign |
Het |
Vps13a |
G |
A |
19: 16,692,464 (GRCm39) |
H817Y |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,405,892 (GRCm39) |
S463P |
probably damaging |
Het |
Zfp423 |
T |
C |
8: 88,508,955 (GRCm39) |
N442S |
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 |
|
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 |
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'- GTTTATTAGAAGGATCCATGAACCC -3'
(R):5'- AATCCTGAGCTGCATCCCTG -3'
Sequencing Primer
(F):5'- GGATCCATGAACCCGCCAG -3'
(R):5'- GAGCTGCATCCCTGTGTCC -3'
|
Posted On |
2016-11-09 |