Ift88 - SNV Details

 Human Rare Diseases 
Meckel syndrome
Jeune syndrome

 Gene Information 
Gene Name Ift88
Old Gene Names for Ift88 Ttc10 , Aw552028 , Tgn737rpw , Tg737rpw
Gene Description intraflagellar transport 88 [Source:MGI Symbol;Acc:MGI:98715]
MGI phenotype Mice homozygous for a null allele display early to mid-gestation lethality, random patterning of the left-right body axis, neural tube defects, pericardial sac expansion, enlarged limb buds, polydactyly, and absent embryonic node cilia.
Uniprot Name
Gene GO
axoneme; photoreceptor connecting cilium; cilium; embryonic organ development; nervous system development; anterior/posterior pattern specification; organ morphogenesis; lung vasculature development; embryonic digit morphogenesis; dorsal/ventral pattern formation; microtubule basal body; regulation of odontogenesis of dentin-containing tooth; motile primary cilium; flagellum; protein processing; centriole; cardiac septum morphogenesis; protein binding; cilium morphogenesis; epithelial cell morphogenesis; in utero embryonic development; embryonic morphogenesis; apical part of cell; telencephalon development; lung development; determination of left/right symmetry; cilium axoneme; smoothened signaling pathway; forebrain morphogenesis; positive regulation of proteolysis; brain development
Homolog in other species IFT88
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040040
Chromosome 14
Coordinate 57,444,405     (Assembly: GRCm38)    
Ref Base A
Codon Change gaA/gaT
Var Base T
Zygosity Heterozygous
Read Depth 54
Allele Frequency
Amino Acid Position 215
Amino Acid Change E->D (Glutamic acid -> Aspartic acid)
Sample ID IGL01346
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

Sift Score 0
Sift Prediction deleterious

 Protein domains 
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Tetratricopeptide repeat-containing domain TPR-contain_dom IPR013026 ENSMUSP00000113768 Prosite_profiles 197
305 Description available Search pathways
Tetratricopeptide repeat TPR_repeat IPR019734 ENSMUSP00000113768 Smart 197
229 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved