Incidental Mutation 'IGL01100:Tktl1'
ID53326
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tktl1
Ensembl Gene ENSMUSG00000031397
Gene Nametransketolase-like 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.433) question?
Stock #IGL01100
Quality Score
Status
ChromosomeX
Chromosomal Location74177259-74208500 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 74200626 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 352 (R352H)
Ref Sequence ENSEMBL: ENSMUSP00000010127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010127] [ENSMUST00000156959]
Predicted Effect probably benign
Transcript: ENSMUST00000010127
AA Change: R352H

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000010127
Gene: ENSMUSG00000031397
AA Change: R352H

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
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,274,673 probably null Het
Abca8a C T 11: 110,058,423 probably null Het
Acad11 A G 9: 104,076,408 T32A probably damaging Het
Ak7 T A 12: 105,713,574 N122K probably benign Het
Arrb1 A T 7: 99,587,213 probably null Het
Csde1 C A 3: 103,040,525 R132S possibly damaging Het
Emilin1 A G 5: 30,918,404 H663R probably benign Het
Etaa1 A G 11: 17,952,576 probably null Het
Fat3 A T 9: 16,375,228 F1000I probably damaging Het
Foxj2 T C 6: 122,828,391 L74P probably damaging Het
Gas6 C T 8: 13,475,118 V289M probably benign Het
Gm10801 A T 2: 98,663,983 Y135F probably benign Het
Ihh C T 1: 74,946,442 A295T probably damaging Het
Ip6k2 G T 9: 108,805,744 S305I probably damaging Het
Kcnk2 A G 1: 189,339,936 V65A probably damaging Het
Kif26b G A 1: 178,917,244 C1635Y probably benign Het
Klhdc4 G A 8: 121,821,843 Q44* probably null Het
Madd C A 2: 91,158,040 R1216L probably damaging Het
Myo15 T A 11: 60,511,158 C3076S probably damaging Het
Olfr365 A T 2: 37,201,640 H133L possibly damaging Het
Olfr670 T A 7: 104,959,995 I246F probably benign Het
Polq C A 16: 37,061,112 P934T probably benign Het
Prkaa1 A T 15: 5,174,318 K227M probably damaging Het
Psap G A 10: 60,299,929 G388S probably benign Het
Repin1 A G 6: 48,596,905 E200G probably damaging Het
Samd9l C A 6: 3,375,863 S466I possibly damaging Het
Slc5a3 A G 16: 92,079,222 probably benign Het
Smg9 G A 7: 24,416,951 V314M probably damaging Het
Ube2z A G 11: 96,063,023 V123A probably damaging Het
Vmn1r176 A T 7: 23,835,624 F35I probably benign Het
Zdhhc18 A T 4: 133,612,958 Y293N probably damaging Het
Other mutations in Tktl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
H8562:Tktl1 UTSW X 74181864 missense probably damaging 0.99
R1341:Tktl1 UTSW X 74197683 missense probably damaging 1.00
R3051:Tktl1 UTSW X 74177404 missense probably benign 0.44
Posted On2013-06-21