Incidental Mutation 'IGL01684:Vta1'
ID 103907
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: 0.396) question?
Stock # IGL01684
Quality Score
Status
Chromosome 10
Chromosomal Location 14531077-14581233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14559875 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CR26
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: 31,904,821 (GRCm39) V21F probably damaging Het
Aox1 G A 1: 58,116,740 (GRCm39) probably null Het
BC024139 A G 15: 76,008,885 (GRCm39) L283P probably damaging Het
Cacna1h C T 17: 25,607,690 (GRCm39) G876S probably damaging Het
Ccdc66 T C 14: 27,222,206 (GRCm39) E179G possibly damaging Het
Ckap5 T G 2: 91,385,699 (GRCm39) D182E probably benign Het
Clk1 A G 1: 58,456,424 (GRCm39) probably null Het
Dhx34 G A 7: 15,937,204 (GRCm39) T831M probably damaging Het
Enox1 T C 14: 77,816,533 (GRCm39) I171T possibly damaging Het
Fscn2 G A 11: 120,258,131 (GRCm39) R351H probably damaging Het
Gabbr2 G A 4: 46,736,501 (GRCm39) S460L probably benign Het
Gramd1a A G 7: 30,838,330 (GRCm39) S308P possibly damaging Het
Guca1a T C 17: 47,706,068 (GRCm39) D137G probably null Het
Heatr5a G A 12: 52,002,294 (GRCm39) T214I probably benign Het
Klf7 T C 1: 64,160,051 (GRCm39) probably benign Het
Macf1 A G 4: 123,359,723 (GRCm39) S1854P probably damaging Het
Mau2 A T 8: 70,481,895 (GRCm39) probably benign Het
Mdn1 A G 4: 32,726,857 (GRCm39) I2639V probably benign Het
Mylk A G 16: 34,792,310 (GRCm39) M1544V possibly damaging Het
Ogdh G T 11: 6,292,546 (GRCm39) V420L probably damaging Het
Or13a21 T C 7: 139,998,828 (GRCm39) N286S probably damaging Het
Or5b105 A G 19: 13,080,353 (GRCm39) F105S possibly damaging Het
Pcm1 A G 8: 41,710,960 (GRCm39) T77A probably benign Het
Piezo2 T A 18: 63,216,241 (GRCm39) I947F probably damaging Het
Prrc2c A T 1: 162,534,031 (GRCm39) probably benign Het
Ptch2 A G 4: 116,961,984 (GRCm39) E107G probably damaging Het
Rmdn3 T C 2: 118,978,055 (GRCm39) E182G probably damaging Het
Rpl23a-ps3 C T 14: 33,892,745 (GRCm39) noncoding transcript Het
Sorl1 T C 9: 41,892,007 (GRCm39) D1881G probably damaging Het
Tbc1d19 A G 5: 54,014,221 (GRCm39) N283S probably benign Het
Tcf20 A G 15: 82,741,361 (GRCm39) F30S probably damaging Het
Tiparp A T 3: 65,460,754 (GRCm39) K581I probably damaging Het
Tle3 T C 9: 61,310,728 (GRCm39) probably benign Het
Ubr3 C A 2: 69,846,502 (GRCm39) Y1608* probably null Het
Vmn1r59 T C 7: 5,457,299 (GRCm39) T154A probably benign Het
Wwtr1 C A 3: 57,483,210 (GRCm39) R31L probably damaging Het
Zfp385b T C 2: 77,550,019 (GRCm39) D22G possibly damaging Het
Zfp516 A G 18: 82,975,326 (GRCm39) E508G probably damaging Het
Zfp735 T A 11: 73,581,191 (GRCm39) V76E possibly damaging Het
Other mutations in Vta1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-01-21