Incidental Mutation 'R5064:Vta1'
| ID |
459864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vta1
|
| Ensembl Gene |
ENSMUSG00000019868 |
| Gene Name |
vesicle (multivesicular body) trafficking 1 |
| Synonyms |
1110059P08Rik, 1110001D18Rik |
| MMRRC Submission |
042654-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R5064 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
14531077-14581233 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 14581222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020018]
[ENSMUST00000154132]
[ENSMUST00000191238]
[ENSMUST00000190114]
|
| AlphaFold |
Q9CR26 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020018
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149485
|
| SMART Domains |
Protein: ENSMUSP00000118498
Gene: ENSMUSG00000019868
| 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 |
noncoding transcript
Transcript: ENSMUST00000151805
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154132
|
| SMART Domains |
Protein: ENSMUSP00000119829
Gene: ENSMUSG00000019868
| 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: ENSMUST00000186175
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188021
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191238
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190114
|
| SMART Domains |
Protein: ENSMUSP00000140754
Gene: ENSMUSG00000019865
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
8 |
119 |
6.8e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.1%
|
| Validation Efficiency |
100% (44/44) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,340,119 (GRCm39) |
V1082A |
probably damaging |
Het |
| Adamts7 |
T |
A |
9: 90,077,883 (GRCm39) |
Y1496N |
probably damaging |
Het |
| Ascl2 |
T |
C |
7: 142,521,996 (GRCm39) |
N151D |
possibly damaging |
Het |
| Asxl3 |
G |
T |
18: 22,649,076 (GRCm39) |
S355I |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,448,278 (GRCm39) |
Q127R |
probably damaging |
Het |
| Efhc1 |
T |
A |
1: 21,045,187 (GRCm39) |
I401N |
possibly damaging |
Het |
| Eml6 |
C |
T |
11: 29,699,300 (GRCm39) |
V1818I |
probably benign |
Het |
| Grin1 |
G |
T |
2: 25,193,843 (GRCm39) |
|
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,140,100 (GRCm39) |
R244H |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mllt6 |
C |
A |
11: 97,564,775 (GRCm39) |
A527E |
probably damaging |
Het |
| Msh5 |
G |
T |
17: 35,262,759 (GRCm39) |
|
probably benign |
Het |
| Mypn |
T |
A |
10: 62,959,150 (GRCm39) |
D1057V |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,469,167 (GRCm39) |
|
probably null |
Het |
| Nat8l |
T |
C |
5: 34,154,213 (GRCm39) |
V9A |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,565,410 (GRCm39) |
I247V |
probably benign |
Het |
| Nr1h2 |
G |
A |
7: 44,201,073 (GRCm39) |
A219V |
possibly damaging |
Het |
| Nup155 |
C |
A |
15: 8,165,354 (GRCm39) |
H663Q |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,292,566 (GRCm39) |
Y1339C |
probably damaging |
Het |
| Plppr1 |
A |
T |
4: 49,319,974 (GRCm39) |
H200L |
probably benign |
Het |
| Por |
T |
C |
5: 135,762,649 (GRCm39) |
V421A |
probably benign |
Het |
| Pxylp1 |
T |
G |
9: 96,736,853 (GRCm39) |
|
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,448 (GRCm39) |
V74I |
probably benign |
Het |
| Sfxn1 |
T |
C |
13: 54,239,588 (GRCm39) |
I37T |
probably benign |
Het |
| Thsd7a |
G |
T |
6: 12,330,951 (GRCm39) |
T1397N |
possibly damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,785,946 (GRCm39) |
|
probably null |
Het |
| Vmn1r55 |
A |
T |
7: 5,149,928 (GRCm39) |
M165K |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,486,534 (GRCm39) |
M787K |
probably damaging |
Het |
| Wdr87-ps |
A |
G |
7: 29,235,080 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp236 |
A |
G |
18: 82,709,701 (GRCm39) |
|
probably null |
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 |
|
IGL03161:Vta1
|
APN |
10 |
14,543,716 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2680:Vta1
|
UTSW |
10 |
14,581,171 (GRCm39) |
unclassified |
probably benign |
|
|
R4751:Vta1
|
UTSW |
10 |
14,531,560 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGGCTCAGGTCTGAAGC -3'
(R):5'- CGACACAGGAGACTCTCATTCTC -3'
Sequencing Primer
(F):5'- TCAGGTCTGAAGCCAGGG -3'
(R):5'- TCTCATTCTCCAAATAATAACTGCC -3'
|
| Posted On |
2017-02-27 |
Incidental Mutation