|Institutional Source||Beutler Lab|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7272 (G1)|
|Chromosomal Location||30548359-30574720 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 30565607 bp|
|Amino Acid Change||Arginine to Leucine at position 186 (R186L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022529 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022529]|
|Predicted Effect||probably damaging
AA Change: R186L
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: R186L
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.9055|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
FUNCTION: This gene encodes an enzyme that binds magnesium and thiamine pyrophosphate and catalyzes the transfer of sugar phosphates to an aldose acceptor. This enzyme is a key component of the pentose phosphate pathway during glycolysis. It is significantly expressed in the cornea and may be involved in the cellular response against oxidative stress. Haploinsufficiency of this gene leads to decreased growth and reduction of adipose tissue. [provided by RefSeq, Dec 2013]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tkt||
(F):5'- ATAGGCTGCCTGATAGGTTTTC -3'
(R):5'- CTCACGGTCAACTTACGGAG -3'
(F):5'- GTATTGAGAGCTTCACACTCCCAGG -3'
(R):5'- GGTCAACTTACGGAGCCTGTATAC -3'