Incidental Mutation 'IGL03161:Vta1'
ID411426
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vta1
Ensembl Gene ENSMUSG00000019868
Gene Namevesicle (multivesicular body) trafficking 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.332) question?
Stock #IGL03161
Quality Score
Status
Chromosome10
Chromosomal Location14654755-14705560 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 14667972 bp
ZygosityHeterozygous
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]
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
2210010C04Rik A T 6: 41,034,306 H47Q probably damaging Het
4930579G24Rik T C 3: 79,629,186 probably benign Het
Abtb2 G T 2: 103,567,454 R243L probably benign Het
Adamts12 A G 15: 11,292,082 E871G possibly damaging Het
Ascc3 A T 10: 50,618,072 N201I probably damaging Het
Aste1 A T 9: 105,396,672 H37L probably damaging Het
Atp1a2 T A 1: 172,278,862 probably benign Het
Cand2 C A 6: 115,792,737 T836K probably benign Het
Ccdc151 A G 9: 22,002,315 S54P probably benign Het
Dnah7c G A 1: 46,467,296 A178T probably benign Het
Dnm2 A G 9: 21,485,724 probably benign Het
Dock3 T C 9: 107,023,788 D326G probably damaging Het
Fignl1 A C 11: 11,802,680 M125R probably benign Het
Gabarapl2 T A 8: 111,942,536 V42D probably benign Het
Hivep2 T C 10: 14,143,356 V1957A probably damaging Het
Hps1 T C 19: 42,767,271 E172G probably damaging Het
Il16 T C 7: 83,722,499 D33G probably damaging Het
Lamb1 A G 12: 31,326,256 N1542D probably benign Het
Mllt6 T C 11: 97,667,151 Y179H probably benign Het
Muc4 T C 16: 32,751,948 S609P possibly damaging Het
Nacad G A 11: 6,600,378 Q938* probably null Het
Olfr1184 G A 2: 88,487,448 A239T probably benign Het
Olfr1295 T C 2: 111,565,331 I38V possibly damaging Het
Pik3c3 C T 18: 30,293,707 T292I probably benign Het
Slit3 T C 11: 35,700,414 V1351A probably benign Het
Spg7 T C 8: 123,087,331 M443T probably damaging Het
Tcof1 A G 18: 60,833,488 S344P possibly damaging Het
Tex37 T C 6: 70,913,535 E91G probably benign Het
Tm4sf5 T A 11: 70,510,272 S105T probably benign Het
Tmem119 A G 5: 113,794,900 V280A possibly damaging Het
Trbv20 A T 6: 41,188,823 I61L probably benign Het
Trip12 T C 1: 84,761,132 probably benign Het
Vmn1r32 T A 6: 66,553,220 M191L possibly damaging Het
Other mutations in Vta1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01684:Vta1 APN 10 14684131 missense probably damaging 0.98
IGL02331:Vta1 APN 10 14705394 missense probably damaging 1.00
R2680:Vta1 UTSW 10 14705427 unclassified probably benign
R4751:Vta1 UTSW 10 14655816 missense probably benign 0.03
R5064:Vta1 UTSW 10 14705478 unclassified probably benign
R5288:Vta1 UTSW 10 14705399 missense probably damaging 0.98
R5635:Vta1 UTSW 10 14668122 splice site probably null
R6146:Vta1 UTSW 10 14705352 missense probably damaging 1.00
R7853:Vta1 UTSW 10 14655717 missense probably damaging 0.96
R8151:Vta1 UTSW 10 14667953 missense probably damaging 1.00
Posted On2016-08-02