Tktl1 - SNV Details



 Gene Information 
Gene Name Tktl1
Old Gene Names for Tktl1 C79967
Gene Description transketolase-like 1 [Source:MGI Symbol;Acc:MGI:1933244]
MGI phenotype Mice homozygous for a knock-out allele exhibit increased susceptibility to DSS-induced colitis.
Uniprot Name
CCDS Name
Gene GO
transketolase activity; oxidoreductase activity
acting on the aldehyde or oxo group of donors
disulfide as acceptor; catalytic activity; cytoplasm; metal ion binding; metabolic process; nucleus; cellular_component
Homolog in other species TKTL1
Omim http://omim.org/entry/300044
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031397
Chromosome X
Coordinate 74,200,626     (Assembly: GRCm38)    
Ref Base G
Codon Change cGt/cAt
Var Base A
Zygosity Heterozygous
Read Depth 95
Allele Frequency
G:R0.52
A:V0.48
Amino Acid Position 352
Amino Acid Change R->H (Arginine -> Histidine)
Sample ID IGL01100
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.58
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved