Incidental Mutation 'IGL01070:Vps54'
| ID |
52223 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vps54
|
| Ensembl Gene |
ENSMUSG00000020128 |
| Gene Name |
VPS54 GARP complex subunit |
| Synonyms |
5330404P15Rik, wr, mSLP8, Vps54l |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
IGL01070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
21239281-21321136 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21312268 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 626
(V626D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006221]
[ENSMUST00000109578]
[ENSMUST00000132017]
|
| AlphaFold |
Q5SPW0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006221
AA Change: V788D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006221
Gene: ENSMUSG00000020128
AA Change: V788D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Pfam:DUF2450
|
198 |
364 |
2.1e-12 |
PFAM |
|
Pfam:Vps54
|
736 |
868 |
3.3e-56 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109578
AA Change: V776D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105206
Gene: ENSMUSG00000020128
AA Change: V776D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Pfam:DUF2450
|
186 |
352 |
2.3e-12 |
PFAM |
|
Pfam:Vps54
|
723 |
857 |
1.6e-63 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132017
AA Change: V626D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116739
Gene: ENSMUSG00000020128
AA Change: V626D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2450
|
72 |
238 |
1.4e-12 |
PFAM |
|
Pfam:Vps54
|
573 |
707 |
7.8e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153411
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,950,275 (GRCm38) |
V124I |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,863,133 (GRCm38) |
H757R |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,907,302 (GRCm38) |
M299I |
probably damaging |
Het |
| Akap3 |
A |
T |
6: 126,865,879 (GRCm38) |
E487V |
possibly damaging |
Het |
| Bicd2 |
T |
C |
13: 49,378,316 (GRCm38) |
S271P |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm38) |
S162N |
probably damaging |
Het |
| Cma1 |
A |
G |
14: 55,942,697 (GRCm38) |
S71P |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,088,145 (GRCm38) |
Y494H |
probably damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,683,022 (GRCm38) |
K191R |
probably benign |
Het |
| Efr3a |
G |
A |
15: 65,853,078 (GRCm38) |
V507I |
probably benign |
Het |
| Fam178b |
C |
T |
1: 36,564,403 (GRCm38) |
R489Q |
possibly damaging |
Het |
| Kcnj4 |
A |
G |
15: 79,484,579 (GRCm38) |
L400P |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,344,093 (GRCm38) |
Y411H |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,061,997 (GRCm38) |
I78L |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,329,084 (GRCm38) |
D1377G |
probably damaging |
Het |
| Pramel5 |
T |
G |
4: 144,271,272 (GRCm38) |
Y467S |
probably damaging |
Het |
| Prkg1 |
G |
A |
19: 30,569,343 (GRCm38) |
|
probably benign |
Het |
| Rbfox1 |
A |
C |
16: 7,306,443 (GRCm38) |
S219R |
possibly damaging |
Het |
| Rfng |
T |
C |
11: 120,783,952 (GRCm38) |
N71D |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,345,238 (GRCm38) |
I1884V |
probably damaging |
Het |
| Rptn |
T |
A |
3: 93,398,176 (GRCm38) |
Y939N |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,383,951 (GRCm38) |
V322A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,549,416 (GRCm38) |
S1455P |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,231,601 (GRCm38) |
R703W |
possibly damaging |
Het |
| Sptan1 |
G |
A |
2: 30,014,173 (GRCm38) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,395,003 (GRCm38) |
D43G |
probably damaging |
Het |
| Tmem67 |
A |
T |
4: 12,054,750 (GRCm38) |
M685K |
probably benign |
Het |
| Trac |
A |
G |
14: 54,220,766 (GRCm38) |
T82A |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,366,793 (GRCm38) |
N1295S |
probably damaging |
Het |
| Ttc36 |
T |
C |
9: 44,801,590 (GRCm38) |
|
probably null |
Het |
| Utp18 |
A |
T |
11: 93,869,848 (GRCm38) |
S384T |
possibly damaging |
Het |
| Vmn1r64 |
C |
A |
7: 5,883,942 (GRCm38) |
A201S |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,061,607 (GRCm38) |
I714F |
probably benign |
Het |
| Wapl |
T |
C |
14: 34,745,622 (GRCm38) |
|
probably benign |
Het |
| Yars2 |
C |
T |
16: 16,306,542 (GRCm38) |
R338* |
probably null |
Het |
|
| Other mutations in Vps54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Vps54
|
APN |
11 |
21,277,909 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL01398:Vps54
|
APN |
11 |
21,295,403 (GRCm38) |
splice site |
probably benign |
|
|
IGL01450:Vps54
|
APN |
11 |
21,291,135 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01611:Vps54
|
APN |
11 |
21,311,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01801:Vps54
|
APN |
11 |
21,275,131 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01872:Vps54
|
APN |
11 |
21,306,940 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02071:Vps54
|
APN |
11 |
21,275,071 (GRCm38) |
missense |
probably null |
0.00 |
|
IGL02186:Vps54
|
APN |
11 |
21,306,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03358:Vps54
|
APN |
11 |
21,268,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
muddle
|
UTSW |
11 |
21,277,670 (GRCm38) |
splice site |
probably null |
|
|
R0031:Vps54
|
UTSW |
11 |
21,312,899 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0147:Vps54
|
UTSW |
11 |
21,300,259 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0158:Vps54
|
UTSW |
11 |
21,306,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0385:Vps54
|
UTSW |
11 |
21,306,381 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0420:Vps54
|
UTSW |
11 |
21,311,071 (GRCm38) |
splice site |
probably benign |
|
|
R0582:Vps54
|
UTSW |
11 |
21,300,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0602:Vps54
|
UTSW |
11 |
21,306,434 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1051:Vps54
|
UTSW |
11 |
21,278,001 (GRCm38) |
frame shift |
probably null |
|
|
R1280:Vps54
|
UTSW |
11 |
21,277,868 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1720:Vps54
|
UTSW |
11 |
21,306,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1875:Vps54
|
UTSW |
11 |
21,300,251 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1883:Vps54
|
UTSW |
11 |
21,312,967 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1971:Vps54
|
UTSW |
11 |
21,292,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2063:Vps54
|
UTSW |
11 |
21,277,955 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2171:Vps54
|
UTSW |
11 |
21,298,810 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2518:Vps54
|
UTSW |
11 |
21,306,394 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3801:Vps54
|
UTSW |
11 |
21,268,832 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4049:Vps54
|
UTSW |
11 |
21,300,183 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4108:Vps54
|
UTSW |
11 |
21,312,877 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4560:Vps54
|
UTSW |
11 |
21,312,260 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4668:Vps54
|
UTSW |
11 |
21,299,989 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4772:Vps54
|
UTSW |
11 |
21,312,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5061:Vps54
|
UTSW |
11 |
21,319,881 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5611:Vps54
|
UTSW |
11 |
21,311,130 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R5638:Vps54
|
UTSW |
11 |
21,308,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5670:Vps54
|
UTSW |
11 |
21,264,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7095:Vps54
|
UTSW |
11 |
21,271,720 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7175:Vps54
|
UTSW |
11 |
21,315,028 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7179:Vps54
|
UTSW |
11 |
21,298,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7269:Vps54
|
UTSW |
11 |
21,277,670 (GRCm38) |
splice site |
probably null |
|
|
R7286:Vps54
|
UTSW |
11 |
21,275,005 (GRCm38) |
missense |
probably benign |
0.30 |
|
R7344:Vps54
|
UTSW |
11 |
21,274,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7552:Vps54
|
UTSW |
11 |
21,298,831 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7897:Vps54
|
UTSW |
11 |
21,263,307 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8011:Vps54
|
UTSW |
11 |
21,275,095 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8193:Vps54
|
UTSW |
11 |
21,292,045 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8282:Vps54
|
UTSW |
11 |
21,300,464 (GRCm38) |
intron |
probably benign |
|
|
R8534:Vps54
|
UTSW |
11 |
21,277,706 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8559:Vps54
|
UTSW |
11 |
21,264,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9034:Vps54
|
UTSW |
11 |
21,263,273 (GRCm38) |
missense |
probably benign |
0.29 |
|
R9096:Vps54
|
UTSW |
11 |
21,277,913 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9253:Vps54
|
UTSW |
11 |
21,308,771 (GRCm38) |
missense |
probably benign |
|
|
R9359:Vps54
|
UTSW |
11 |
21,292,108 (GRCm38) |
missense |
probably benign |
|
|
R9367:Vps54
|
UTSW |
11 |
21,300,234 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Vps54
|
UTSW |
11 |
21,263,206 (GRCm38) |
start gained |
probably benign |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation