Incidental Mutation 'IGL03161:Vta1'
ID |
411426 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vta1
|
Ensembl Gene |
ENSMUSG00000019868 |
Gene Name |
vesicle (multivesicular body) trafficking 1 |
Synonyms |
1110059P08Rik, 1110001D18Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.393)
|
Stock # |
IGL03161
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
14531077-14581233 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 14543716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 219
(H219Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119829
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020018]
[ENSMUST00000133927]
[ENSMUST00000154132]
|
AlphaFold |
Q9CR26 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020018
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124976
|
Predicted Effect |
unknown
Transcript: ENSMUST00000133927
AA Change: M56K
|
SMART Domains |
Protein: ENSMUSP00000119958 Gene: ENSMUSG00000019868 AA Change: M56K
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
45 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000149485
AA Change: H218Q
|
SMART Domains |
Protein: ENSMUSP00000118498 Gene: ENSMUSG00000019868 AA Change: H218Q
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
Pfam:Vta1
|
16 |
158 |
2.2e-50 |
PFAM |
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
low complexity region
|
184 |
197 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154132
AA Change: H219Q
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000119829 Gene: ENSMUSG00000019868 AA Change: H219Q
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Vta1
|
16 |
158 |
1.6e-53 |
PFAM |
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
low complexity region
|
184 |
197 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156398
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579G24Rik |
T |
C |
3: 79,536,493 (GRCm39) |
|
probably benign |
Het |
Abtb2 |
G |
T |
2: 103,397,799 (GRCm39) |
R243L |
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,292,168 (GRCm39) |
E871G |
possibly damaging |
Het |
Ascc3 |
A |
T |
10: 50,494,168 (GRCm39) |
N201I |
probably damaging |
Het |
Aste1 |
A |
T |
9: 105,273,871 (GRCm39) |
H37L |
probably damaging |
Het |
Atp1a2 |
T |
A |
1: 172,106,429 (GRCm39) |
|
probably benign |
Het |
Cand2 |
C |
A |
6: 115,769,698 (GRCm39) |
T836K |
probably benign |
Het |
Dnah7c |
G |
A |
1: 46,506,456 (GRCm39) |
A178T |
probably benign |
Het |
Dnm2 |
A |
G |
9: 21,397,020 (GRCm39) |
|
probably benign |
Het |
Dock3 |
T |
C |
9: 106,900,987 (GRCm39) |
D326G |
probably damaging |
Het |
Fignl1 |
A |
C |
11: 11,752,680 (GRCm39) |
M125R |
probably benign |
Het |
Gabarapl2 |
T |
A |
8: 112,669,168 (GRCm39) |
V42D |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,019,100 (GRCm39) |
V1957A |
probably damaging |
Het |
Hps1 |
T |
C |
19: 42,755,710 (GRCm39) |
E172G |
probably damaging |
Het |
Il16 |
T |
C |
7: 83,371,707 (GRCm39) |
D33G |
probably damaging |
Het |
Lamb1 |
A |
G |
12: 31,376,255 (GRCm39) |
N1542D |
probably benign |
Het |
Mllt6 |
T |
C |
11: 97,557,977 (GRCm39) |
Y179H |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,570,766 (GRCm39) |
S609P |
possibly damaging |
Het |
Nacad |
G |
A |
11: 6,550,378 (GRCm39) |
Q938* |
probably null |
Het |
Odad3 |
A |
G |
9: 21,913,611 (GRCm39) |
S54P |
probably benign |
Het |
Or4k45 |
T |
C |
2: 111,395,676 (GRCm39) |
I38V |
possibly damaging |
Het |
Or4p22 |
G |
A |
2: 88,317,792 (GRCm39) |
A239T |
probably benign |
Het |
Pik3c3 |
C |
T |
18: 30,426,760 (GRCm39) |
T292I |
probably benign |
Het |
Prss3b |
A |
T |
6: 41,011,240 (GRCm39) |
H47Q |
probably damaging |
Het |
Slit3 |
T |
C |
11: 35,591,241 (GRCm39) |
V1351A |
probably benign |
Het |
Spg7 |
T |
C |
8: 123,814,070 (GRCm39) |
M443T |
probably damaging |
Het |
Spmip9 |
T |
C |
6: 70,890,519 (GRCm39) |
E91G |
probably benign |
Het |
Tcof1 |
A |
G |
18: 60,966,560 (GRCm39) |
S344P |
possibly damaging |
Het |
Tm4sf5 |
T |
A |
11: 70,401,098 (GRCm39) |
S105T |
probably benign |
Het |
Tmem119 |
A |
G |
5: 113,932,961 (GRCm39) |
V280A |
possibly damaging |
Het |
Trbv20 |
A |
T |
6: 41,165,757 (GRCm39) |
I61L |
probably benign |
Het |
Trip12 |
T |
C |
1: 84,738,853 (GRCm39) |
|
probably benign |
Het |
Vmn1r32 |
T |
A |
6: 66,530,204 (GRCm39) |
M191L |
possibly damaging |
Het |
|
Other mutations in Vta1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01684:Vta1
|
APN |
10 |
14,559,875 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02331:Vta1
|
APN |
10 |
14,581,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R2680:Vta1
|
UTSW |
10 |
14,581,171 (GRCm39) |
unclassified |
probably benign |
|
R4751:Vta1
|
UTSW |
10 |
14,531,560 (GRCm39) |
missense |
probably benign |
0.03 |
R5064:Vta1
|
UTSW |
10 |
14,581,222 (GRCm39) |
unclassified |
probably benign |
|
R5288:Vta1
|
UTSW |
10 |
14,581,143 (GRCm39) |
missense |
probably damaging |
0.98 |
R5635:Vta1
|
UTSW |
10 |
14,543,866 (GRCm39) |
splice site |
probably null |
|
R6146:Vta1
|
UTSW |
10 |
14,581,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R7853:Vta1
|
UTSW |
10 |
14,531,461 (GRCm39) |
missense |
probably damaging |
0.96 |
R8151:Vta1
|
UTSW |
10 |
14,543,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R9052:Vta1
|
UTSW |
10 |
14,551,692 (GRCm39) |
missense |
probably benign |
0.14 |
R9143:Vta1
|
UTSW |
10 |
14,551,776 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9172:Vta1
|
UTSW |
10 |
14,551,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R9495:Vta1
|
UTSW |
10 |
14,531,583 (GRCm39) |
missense |
probably benign |
0.22 |
|
Posted On |
2016-08-02 |