Tkt - SNV Details



 Gene Information 
Gene Name Tkt
Gene Description transketolase [Source:MGI Symbol;Acc:MGI:105992]
MGI phenotype Homozygotes for a targeted null mutation die at or before the morula stage. Heterozygotes show reduced growth, decreased fat accumulation, microphthalmia, and reduced female fertility.
Uniprot Name
CCDS Name
Gene GO
thiamine pyrophosphate binding; transketolase activity; oxidoreductase activity
acting on the aldehyde or oxo group of donors
disulfide as acceptor; catalytic activity; monosaccharide binding; glyceraldehyde-3-phosphate biosynthetic process; endoplasmic reticulum membrane; protein homodimerization activity; metabolic process; nucleus; regulation of growth; pentose-phosphate shunt
non-oxidative branch; magnesium ion binding; cofactor binding; peroxisome; ribose phosphate biosynthetic process
Homolog in other species TKT
Omim http://omim.org/entry/606781
Immgen Expression
HIGH(HIGHER IN MYELOID GROUP, DC GROUP, TGD GROUP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021957
Chromosome 14
Coordinate 30,572,225     (Assembly: GRCm38)    
Ref Base G
Codon Change Gtg/Atg
Var Base A
Zygosity Heterozygous
Read Depth 21
Allele Frequency
G:R0.48
A:V0.52
Amino Acid Position 531
Amino Acid Change V->M (Valine -> Methionine)
Sample ID IGL02326
Median Base Quality 38
Backgrounds C57BL/6NCrl
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
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000022529:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Transketolase, C-terminal Transketolase_C IPR005476 ENSMUSP00000022529 Pfam 493
612 Description available Search pathways
Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II Transketo_C/Pyr-ferredox_oxred IPR009014 ENSMUSP00000022529 Superfamily 476
619 Description available Search pathways

 Availability Details 
Availability Cryopreserved