Incidental Mutation 'R3051:Tktl1'
ID 264970
Institutional Source Beutler Lab
Gene Symbol Tktl1
Ensembl Gene ENSMUSG00000031397
Gene Name transketolase-like 1
Synonyms
MMRRC Submission 040560-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # R3051 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 73220865-73252104 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73221010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 39 (T39A)
Ref Sequence ENSEMBL: ENSMUSP00000117388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010127] [ENSMUST00000156959]
AlphaFold Q99MX0
Predicted Effect probably benign
Transcript: ENSMUST00000010127
AA Change: T39A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000010127
Gene: ENSMUSG00000031397
AA Change: T39A

DomainStartEndE-ValueType
Pfam:Transketolase_N 84 251 3.2e-19 PFAM
Pfam:E1_dh 88 242 2.2e-9 PFAM
Transket_pyr 288 451 1.19e-35 SMART
Pfam:Transketolase_C 463 585 1.9e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156959
AA Change: T39A

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117388
Gene: ENSMUSG00000031397
AA Change: T39A

DomainStartEndE-ValueType
Pfam:Transketolase_N 23 86 2.7e-11 PFAM
Meta Mutation Damage Score 0.2940 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (32/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to DSS-induced colitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 G A 8: 46,974,374 (GRCm39) V330I probably benign Het
Akap6 T C 12: 52,933,816 (GRCm39) L436P probably damaging Het
Axin1 A G 17: 26,409,099 (GRCm39) T700A probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Ccdc178 T A 18: 22,268,188 (GRCm39) M100L probably benign Het
Ceacam20 T A 7: 19,710,110 (GRCm39) V378E probably benign Het
Cwf19l2 G A 9: 3,410,006 (GRCm39) R45H probably benign Het
Cyp2a5 A G 7: 26,542,410 (GRCm39) I471V possibly damaging Het
Ddr2 T C 1: 169,816,024 (GRCm39) K561R probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Ltf A G 9: 110,853,590 (GRCm39) D280G probably benign Het
Nlrc5 A G 8: 95,203,343 (GRCm39) E481G probably benign Het
Or1e30 A G 11: 73,678,060 (GRCm39) T99A probably benign Het
Pald1 G A 10: 61,182,542 (GRCm39) Q412* probably null Het
Ppp4r3c2 G A X: 88,797,709 (GRCm39) V514I probably damaging Het
Ptprd A G 4: 76,018,867 (GRCm39) Y649H probably damaging Het
R3hcc1l T G 19: 42,551,064 (GRCm39) Y20* probably null Het
Rbfox3 G T 11: 118,393,714 (GRCm39) A37D probably damaging Het
Rpa2 A G 4: 132,502,437 (GRCm39) probably null Het
Ryr1 A T 7: 28,752,515 (GRCm39) V3598E probably damaging Het
Slc6a7 G A 18: 61,142,589 (GRCm39) T41M probably damaging Het
Tacc2 G A 7: 130,227,226 (GRCm39) E1323K possibly damaging Het
Ten1 T C 11: 116,096,556 (GRCm39) F70S possibly damaging Het
Terf2 A C 8: 107,806,016 (GRCm39) L312R possibly damaging Het
Tmem51 A T 4: 141,759,335 (GRCm39) Y138N probably damaging Het
Trp53bp2 T C 1: 182,281,347 (GRCm39) F983L probably damaging Het
Trpm1 G A 7: 63,918,849 (GRCm39) E730K probably damaging Het
Ubxn2a T A 12: 4,941,322 (GRCm39) K95* probably null Het
Xpo6 T C 7: 125,703,893 (GRCm39) N1086D probably damaging Het
Zfp345 T C 2: 150,316,772 (GRCm39) N12D probably benign Het
Other mutations in Tktl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Tktl1 APN X 73,244,232 (GRCm39) missense probably benign 0.42
H8562:Tktl1 UTSW X 73,225,470 (GRCm39) missense probably damaging 0.99
R1341:Tktl1 UTSW X 73,241,289 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTTTAACTGAGCGGCACAGC -3'
(R):5'- TAGGCTTCCAGAACTTTGGTCAC -3'

Sequencing Primer
(F):5'- CTGAGGCAGCCGTTTAGTTC -3'
(R):5'- TCACAATTAGTCAGGGGTGTACC -3'
Posted On 2015-02-05