Incidental Mutation 'R1341:Tktl1'
ID 157070
Institutional Source Beutler Lab
Gene Symbol Tktl1
Ensembl Gene ENSMUSG00000031397
Gene Name transketolase-like 1
Synonyms
MMRRC Submission 039406-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # R1341 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 73220865-73252104 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 73241289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 302 (G302V)
Ref Sequence ENSEMBL: ENSMUSP00000010127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010127] [ENSMUST00000156959]
AlphaFold Q99MX0
Predicted Effect probably damaging
Transcript: ENSMUST00000010127
AA Change: G302V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010127
Gene: ENSMUSG00000031397
AA Change: G302V

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
SMART Domains Protein: ENSMUSP00000117388
Gene: ENSMUSG00000031397

DomainStartEndE-ValueType
Pfam:Transketolase_N 23 86 2.7e-11 PFAM
Meta Mutation Damage Score 0.9580 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.9%
Validation Efficiency 96% (53/55)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v0e2 A G 6: 48,517,045 (GRCm39) Y75C probably benign Het
Bltp3a T C 17: 28,096,393 (GRCm39) probably benign Het
Cacna1g A G 11: 94,324,582 (GRCm39) L1190P probably damaging Het
Ccdc190 A G 1: 169,757,586 (GRCm39) D15G probably damaging Het
Cep126 G T 9: 8,099,777 (GRCm39) P919Q possibly damaging Het
Cfhr4 T A 1: 139,660,131 (GRCm39) T665S probably damaging Het
Chchd6 A G 6: 89,361,623 (GRCm39) V260A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cramp1 T C 17: 25,196,514 (GRCm39) K867E probably damaging Het
Dnah6 A T 6: 73,168,602 (GRCm39) N440K probably benign Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Gm17421 A T 12: 113,333,334 (GRCm39) noncoding transcript Het
H2bc13 T C 13: 21,900,280 (GRCm39) K12E probably benign Het
Hdac3 A G 18: 38,087,766 (GRCm39) V36A probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Itga10 G A 3: 96,559,811 (GRCm39) E489K probably damaging Het
Mgat5b A C 11: 116,869,223 (GRCm39) I589L probably benign Het
Mindy4 A G 6: 55,232,601 (GRCm39) N348S probably benign Het
Mmp15 A G 8: 96,098,931 (GRCm39) D586G probably benign Het
Mmp9 A G 2: 164,791,247 (GRCm39) D139G probably damaging Het
Morc2a C A 11: 3,630,216 (GRCm39) L471I possibly damaging Het
Mycbp2 T A 14: 103,536,303 (GRCm39) probably benign Het
Mylip T A 13: 45,559,412 (GRCm39) S105T probably damaging Het
Nat8f4 A T 6: 85,878,406 (GRCm39) L39Q probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Obscn T C 11: 58,920,198 (GRCm39) probably benign Het
Or10ak13 T C 4: 118,639,579 (GRCm39) T68A probably benign Het
Or11m3 G A 15: 98,396,135 (GRCm39) V261M possibly damaging Het
Or51k2 T A 7: 103,596,589 (GRCm39) V272D possibly damaging Het
Or5t7 T C 2: 86,507,507 (GRCm39) M57V possibly damaging Het
Or9k2 G T 10: 129,999,185 (GRCm39) D3E probably benign Het
Pramel29 T C 4: 143,934,129 (GRCm39) D326G probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Rab11fip1 G T 8: 27,633,388 (GRCm39) A1106E probably damaging Het
Rfc1 A G 5: 65,448,537 (GRCm39) S363P probably damaging Het
Skint10 A G 4: 112,622,228 (GRCm39) probably benign Het
Spen T C 4: 141,196,711 (GRCm39) N3595D possibly damaging Het
Swsap1 A G 9: 21,868,450 (GRCm39) K241E probably benign Het
Tab1 A G 15: 80,044,315 (GRCm39) T448A possibly damaging Het
Usp25 A G 16: 76,912,331 (GRCm39) T1017A probably benign Het
Vmn2r78 T A 7: 86,571,477 (GRCm39) M429K possibly damaging Het
Wdr49 A T 3: 75,336,640 (GRCm39) F356I probably damaging Het
Wnt1 T C 15: 98,689,764 (GRCm39) F184L probably damaging Het
Yy1 T C 12: 108,759,445 (GRCm39) I36T unknown Het
Zbtb39 A G 10: 127,579,369 (GRCm39) I648V possibly damaging 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
R3051:Tktl1 UTSW X 73,221,010 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- GCCTGGAAGGGGTGATTGATTTAAGGA -3'
(R):5'- AGAAAGGACTTGAGAGACCTGCATGATA -3'

Sequencing Primer
(F):5'- gcccaggctagacttgaac -3'
(R):5'- TGAGAGACCTGCATGATATACTCAC -3'
Posted On 2014-02-11