Incidental Mutation 'R7423:Tkt'
ID 575862
Institutional Source Beutler Lab
Gene Symbol Tkt
Ensembl Gene ENSMUSG00000021957
Gene Name transketolase
Synonyms p68
MMRRC Submission 045501-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7423 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 30271088-30296681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30292992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 490 (G490S)
Ref Sequence ENSEMBL: ENSMUSP00000022529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022529]
AlphaFold P40142
Predicted Effect possibly damaging
Transcript: ENSMUST00000022529
AA Change: G490S

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022529
Gene: ENSMUSG00000021957
AA Change: G490S

DomainStartEndE-ValueType
Pfam:Transketolase_N 14 284 1.4e-46 PFAM
Pfam:E1_dh 108 239 6.9e-11 PFAM
Transket_pyr 315 479 1.52e-42 SMART
Pfam:Transketolase_C 490 612 3.9e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175415
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223633
Predicted Effect
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225857
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 96% (91/95)
MGI Phenotype 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
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 A T 17: 57,175,257 (GRCm39) M85K probably benign Het
Actn4 C T 7: 28,593,680 (GRCm39) A905T probably damaging Het
Aff1 T A 5: 103,994,967 (GRCm39) V1055D probably damaging Het
Aox3 A G 1: 58,160,228 (GRCm39) E137G possibly damaging Het
Apaf1 A T 10: 90,895,468 (GRCm39) D443E probably damaging Het
Arl5b C A 2: 15,072,983 (GRCm39) A28E probably damaging Het
Atg16l1 T C 1: 87,714,023 (GRCm39) V478A probably damaging Het
Atp6v1f G C 6: 29,468,105 (GRCm39) E13Q probably null Het
Atpaf1 A T 4: 115,647,827 (GRCm39) K162M probably damaging Het
C3 A T 17: 57,521,767 (GRCm39) L1100Q probably damaging Het
Ccr1 A G 9: 123,764,422 (GRCm39) L36P probably damaging Het
Cct3 T C 3: 88,216,503 (GRCm39) L153S probably benign Het
Chd4 A G 6: 125,105,822 (GRCm39) D1813G possibly damaging Het
Chrm3 T C 13: 9,928,845 (GRCm39) I64V probably benign Het
Cnot2 A T 10: 116,328,303 (GRCm39) V477E probably damaging Het
Csf2rb2 T A 15: 78,176,760 (GRCm39) I211F possibly damaging Het
Dnah8 T C 17: 30,923,743 (GRCm39) L1237P possibly damaging Het
Dnttip2 T C 3: 122,069,175 (GRCm39) V130A probably benign Het
Dock10 G A 1: 80,501,497 (GRCm39) A1852V possibly damaging Het
Dock3 A G 9: 106,844,370 (GRCm39) V910A probably damaging Het
Drgx A G 14: 32,350,778 (GRCm39) S205G probably damaging Het
Fbrs G A 7: 127,088,633 (GRCm39) W738* probably null Het
Fmnl3 T A 15: 99,227,281 (GRCm39) D162V probably damaging Het
Fosl2 A G 5: 32,307,807 (GRCm39) R133G probably damaging Het
Frmpd1 A G 4: 45,256,948 (GRCm39) Q172R probably damaging Het
Fsd1l A T 4: 53,686,406 (GRCm39) D273V probably damaging Het
Fstl4 T A 11: 52,959,382 (GRCm39) M141K possibly damaging Het
Gcfc2 A G 6: 81,923,541 (GRCm39) D535G probably damaging Het
Gm19410 A C 8: 36,271,761 (GRCm39) D1277A probably benign Het
Gnmt T A 17: 47,037,066 (GRCm39) N211Y probably damaging Het
Hic2 A G 16: 17,075,993 (GRCm39) D274G probably damaging Het
Hnrnpu A G 1: 178,156,849 (GRCm39) probably benign Het
Icam5 T C 9: 20,948,201 (GRCm39) S670P probably benign Het
Ighv5-4 A T 12: 113,561,120 (GRCm39) L100Q probably damaging Het
Il17rb A T 14: 29,719,072 (GRCm39) S337T probably damaging Het
Inf2 G T 12: 112,576,172 (GRCm39) R883L unknown Het
Inhbc C T 10: 127,193,275 (GRCm39) C247Y probably damaging Het
Ints4 A G 7: 97,156,926 (GRCm39) K333E probably damaging Het
Iyd A T 10: 3,497,088 (GRCm39) I148F probably damaging Het
Klk1b26 A T 7: 43,664,193 (GRCm39) D16V probably damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lama2 A T 10: 27,088,222 (GRCm39) S852T probably benign Het
Mbtd1 A G 11: 93,834,622 (GRCm39) E600G probably benign Het
Mfap3 T G 11: 57,420,329 (GRCm39) N103K probably damaging Het
Mtor G A 4: 148,640,801 (GRCm39) E2536K possibly damaging Het
Mug2 G A 6: 122,056,685 (GRCm39) S1210N probably benign Het
Nat8 G A 6: 85,807,477 (GRCm39) L219F probably benign Het
Nisch A G 14: 30,893,658 (GRCm39) V1305A probably benign Het
Nup153 A T 13: 46,850,120 (GRCm39) probably null Het
Or3a1b G A 11: 74,012,811 (GRCm39) R232H probably benign Het
Otud6b A T 4: 14,825,858 (GRCm39) probably null Het
Pbld2 A G 10: 62,883,783 (GRCm39) T83A probably damaging Het
Pcx A T 19: 4,671,206 (GRCm39) M1144L probably benign Het
Pdpk1 C A 17: 24,329,874 (GRCm39) R81L probably benign Het
Pik3cd A T 4: 149,736,220 (GRCm39) probably null Het
Plch2 A C 4: 155,068,194 (GRCm39) D1477E probably damaging Het
Plek2 A G 12: 78,946,884 (GRCm39) I51T probably damaging Het
Plekhn1 A G 4: 156,315,142 (GRCm39) V505A probably benign Het
Pofut2 T C 10: 77,098,273 (GRCm39) S129P possibly damaging Het
Prdx5 C A 19: 6,887,370 (GRCm39) probably benign Het
Proca1 G T 11: 78,085,643 (GRCm39) probably benign Het
Ptprs A C 17: 56,721,793 (GRCm39) Y1752D probably damaging Het
Pum1 G A 4: 130,501,856 (GRCm39) V1127M probably damaging Het
Ralbp1 T C 17: 66,165,976 (GRCm39) R403G probably damaging Het
Reps1 A T 10: 17,969,635 (GRCm39) H246L possibly damaging Het
Rps6kc1 A C 1: 190,531,293 (GRCm39) M903R probably damaging Het
Rubcnl A G 14: 75,287,083 (GRCm39) T584A probably benign Het
Samd9l A T 6: 3,374,408 (GRCm39) V951E probably damaging Het
Sbf2 A G 7: 110,038,055 (GRCm39) F463L possibly damaging Het
Sdr16c6 G A 4: 4,076,921 (GRCm39) probably benign Het
Shoc1 A T 4: 59,076,264 (GRCm39) S560T probably benign Het
Slc26a8 A G 17: 28,867,177 (GRCm39) I548T probably benign Het
Slc2a13 T A 15: 91,456,883 (GRCm39) I140F probably damaging Het
Smtn A T 11: 3,481,200 (GRCm39) probably null Het
Sobp G T 10: 42,898,564 (GRCm39) C340* probably null Het
Sox6 A T 7: 115,149,258 (GRCm39) V413E probably benign Het
Spin1 T C 13: 51,277,326 (GRCm39) probably null Het
Sra1 T C 18: 36,800,536 (GRCm39) T224A probably benign Het
Sv2c A T 13: 96,185,056 (GRCm39) F207Y probably benign Het
Tcp10c T A 17: 13,581,503 (GRCm39) probably null Het
Tpgs1 G T 10: 79,511,655 (GRCm39) A266S probably damaging Het
Tprg1 T G 16: 25,241,003 (GRCm39) S260A probably damaging Het
Trdv2-1 T A 14: 54,183,935 (GRCm39) W56R probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trpc4 T A 3: 54,225,450 (GRCm39) V933E probably benign Het
Ulk4 A T 9: 120,932,687 (GRCm39) M1051K possibly damaging Het
Unc119b A G 5: 115,272,743 (GRCm39) L76P probably damaging Het
Vmn2r15 G A 5: 109,445,394 (GRCm39) S10F probably benign Het
Vwce A G 19: 10,641,704 (GRCm39) E810G probably benign Het
Wdr7 T A 18: 63,910,451 (GRCm39) probably null Het
Wnk2 T A 13: 49,191,608 (GRCm39) E1283V probably benign Het
Zfp28 T C 7: 6,396,956 (GRCm39) C464R probably damaging Het
Zpld1 C T 16: 55,054,027 (GRCm39) C255Y probably damaging Het
Other mutations in Tkt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Tkt APN 14 30,291,052 (GRCm39) missense probably damaging 1.00
IGL02122:Tkt APN 14 30,293,158 (GRCm39) missense possibly damaging 0.95
IGL02323:Tkt APN 14 30,292,992 (GRCm39) missense possibly damaging 0.69
IGL02326:Tkt APN 14 30,294,182 (GRCm39) missense probably damaging 0.99
IGL02554:Tkt APN 14 30,280,737 (GRCm39) missense probably damaging 1.00
IGL03145:Tkt APN 14 30,282,645 (GRCm39) splice site probably benign
R0148:Tkt UTSW 14 30,294,177 (GRCm39) missense probably damaging 1.00
R0732:Tkt UTSW 14 30,293,097 (GRCm39) splice site probably null
R1550:Tkt UTSW 14 30,287,525 (GRCm39) missense probably damaging 1.00
R2218:Tkt UTSW 14 30,289,018 (GRCm39) critical splice donor site probably null
R4464:Tkt UTSW 14 30,290,231 (GRCm39) missense possibly damaging 0.86
R4771:Tkt UTSW 14 30,288,982 (GRCm39) missense probably damaging 0.97
R4998:Tkt UTSW 14 30,287,499 (GRCm39) nonsense probably null
R5123:Tkt UTSW 14 30,287,603 (GRCm39) missense probably benign 0.11
R5240:Tkt UTSW 14 30,287,635 (GRCm39) missense probably damaging 1.00
R5283:Tkt UTSW 14 30,282,575 (GRCm39) missense probably damaging 1.00
R5777:Tkt UTSW 14 30,280,733 (GRCm39) missense possibly damaging 0.88
R6051:Tkt UTSW 14 30,290,153 (GRCm39) missense probably benign 0.27
R6517:Tkt UTSW 14 30,271,280 (GRCm39) missense probably damaging 0.96
R6645:Tkt UTSW 14 30,292,168 (GRCm39) missense probably damaging 1.00
R6722:Tkt UTSW 14 30,291,041 (GRCm39) missense probably damaging 1.00
R7120:Tkt UTSW 14 30,281,779 (GRCm39) missense probably benign 0.03
R7179:Tkt UTSW 14 30,281,815 (GRCm39) missense probably damaging 1.00
R7272:Tkt UTSW 14 30,287,564 (GRCm39) missense probably damaging 1.00
R7274:Tkt UTSW 14 30,291,102 (GRCm39) splice site probably null
R7402:Tkt UTSW 14 30,280,755 (GRCm39) missense probably damaging 1.00
R7522:Tkt UTSW 14 30,290,180 (GRCm39) missense possibly damaging 0.52
R7712:Tkt UTSW 14 30,280,763 (GRCm39) missense probably benign 0.00
R8975:Tkt UTSW 14 30,288,884 (GRCm39) intron probably benign
R9487:Tkt UTSW 14 30,281,796 (GRCm39) missense probably damaging 1.00
R9487:Tkt UTSW 14 30,281,795 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- TAGCGCCAGGACACAATGAC -3'
(R):5'- TTTAGACTCTCTGCAGCAGCC -3'

Sequencing Primer
(F):5'- CTGTGCCCAGGTTATAATTGACTGAC -3'
(R):5'- GGCCTCATGCAGAGTTACAC -3'
Posted On 2019-10-07