Ttll8 - SNV Details



 Gene Information 
Gene Name Ttll8
Old Gene Names for Ttll8 1700019p01rik
Gene Description tubulin tyrosine ligase-like family, member 8 [Source:MGI Symbol;Acc:MGI:1922902]
Uniprot Name
CCDS Name
Gene GO
cilium; cytoplasm; sigma factor antagonist activity; microtubule; cellular protein modification process; protein polyglycylation; protein-glycine ligase activity
initiating; tubulin-tyrosine ligase activity; protein-glycine ligase activity; microtubule cytoskeleton; ATP binding; cilium axoneme
Homolog in other species TTLL8
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022388
Chromosome 15
Coordinate 88,917,250     (Assembly: GRCm38)    
Ref Base G
Codon Change Cgt/Tgt
Var Base A
Zygosity Heterozygous
Read Depth 35
Allele Frequency
G:R0.46
A:V0.54
Amino Acid Position 412
Amino Acid Change R->C (Arginine -> Cysteine)
Sample ID IGL01061
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.04
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000104996:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Tubulin-tyrosine ligase/Tubulin polyglutamylase Tub_tyr_ligase IPR004344 ENSMUSP00000104996 Pfam 369
616 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved