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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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