Tctn2 - SNV Details



 Human Rare Diseases 
Joubert syndrome with renal defect
Meckel syndrome

 Gene Information 
Gene Name Tctn2
Old Gene Names for Tctn2 4432405b04rik
Gene Description tectonic family member 2 [Source:MGI Symbol;Acc:MGI:1915228]
Uniprot Name
CCDS Name
Gene GO
TCTN-B9D complex; integral to membrane; microtubule basal body; cilium assembly; cilium morphogenesis; smoothened signaling pathway; molecular_function
Homolog in other species TCTN2
Omim http://omim.org/entry/613846
Immgen Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029386
Chromosome 5
Coordinate 124,608,561     (Assembly: GRCm38)    
Ref Base C
Codon Change ttC/ttA
Var Base A
Zygosity Heterozygous
Read Depth 186
Allele Frequency
C:R0.55
A:V0.45
Amino Acid Position 268
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL02154
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.27
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved