Incidental Mutation 'IGL01684:Vta1'
ID103907
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 #IGL01684
Quality Score
Status
Chromosome10
Chromosomal Location14654755-14705560 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 14684131 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 115 (I115T)
Ref Sequence ENSEMBL: ENSMUSP00000119829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020018] [ENSMUST00000133927] [ENSMUST00000154132]
Predicted Effect probably benign
Transcript: ENSMUST00000020018
Predicted Effect probably benign
Transcript: ENSMUST00000133927
SMART Domains Protein: ENSMUSP00000119958
Gene: ENSMUSG00000019868

DomainStartEndE-ValueType
low complexity region 25 45 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000149485
AA Change: I114T
SMART Domains Protein: ENSMUSP00000118498
Gene: ENSMUSG00000019868
AA Change: I114T

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 noncoding transcript
Transcript: ENSMUST00000151805
Predicted Effect probably damaging
Transcript: ENSMUST00000154132
AA Change: I115T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119829
Gene: ENSMUSG00000019868
AA Change: I115T

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l G T 18: 31,771,768 V21F probably damaging Het
Aox1 G A 1: 58,077,581 probably null Het
BC024139 A G 15: 76,124,685 L283P probably damaging Het
Cacna1h C T 17: 25,388,716 G876S probably damaging Het
Ccdc66 T C 14: 27,500,249 E179G possibly damaging Het
Ckap5 T G 2: 91,555,354 D182E probably benign Het
Clk1 A G 1: 58,417,265 probably null Het
Dhx34 G A 7: 16,203,279 T831M probably damaging Het
Enox1 T C 14: 77,579,093 I171T possibly damaging Het
Fscn2 G A 11: 120,367,305 R351H probably damaging Het
Gabbr2 G A 4: 46,736,501 S460L probably benign Het
Gramd1a A G 7: 31,138,905 S308P possibly damaging Het
Guca1a T C 17: 47,395,143 D137G probably null Het
Heatr5a G A 12: 51,955,511 T214I probably benign Het
Klf7 T C 1: 64,120,892 probably benign Het
Macf1 A G 4: 123,465,930 S1854P probably damaging Het
Mau2 A T 8: 70,029,245 probably benign Het
Mdn1 A G 4: 32,726,857 I2639V probably benign Het
Mylk A G 16: 34,971,940 M1544V possibly damaging Het
Ogdh G T 11: 6,342,546 V420L probably damaging Het
Olfr1458 A G 19: 13,102,989 F105S possibly damaging Het
Olfr532 T C 7: 140,418,915 N286S probably damaging Het
Pcm1 A G 8: 41,257,923 T77A probably benign Het
Piezo2 T A 18: 63,083,170 I947F probably damaging Het
Prrc2c A T 1: 162,706,462 probably benign Het
Ptch2 A G 4: 117,104,787 E107G probably damaging Het
Rmdn3 T C 2: 119,147,574 E182G probably damaging Het
Rpl23a-ps3 C T 14: 34,170,788 noncoding transcript Het
Sorl1 T C 9: 41,980,711 D1881G probably damaging Het
Tbc1d19 A G 5: 53,856,879 N283S probably benign Het
Tcf20 A G 15: 82,857,160 F30S probably damaging Het
Tiparp A T 3: 65,553,333 K581I probably damaging Het
Tle3 T C 9: 61,403,446 probably benign Het
Ubr3 C A 2: 70,016,158 Y1608* probably null Het
Vmn1r59 T C 7: 5,454,300 T154A probably benign Het
Wwtr1 C A 3: 57,575,789 R31L probably damaging Het
Zfp385b T C 2: 77,719,675 D22G possibly damaging Het
Zfp516 A G 18: 82,957,201 E508G probably damaging Het
Zfp735 T A 11: 73,690,365 V76E possibly damaging Het
Other mutations in Vta1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02331:Vta1 APN 10 14705394 missense probably damaging 1.00
IGL03161:Vta1 APN 10 14667972 missense possibly damaging 0.54
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 On2014-01-21