Incidental Mutation 'IGL00954:Tkt'
ID28968
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tkt
Ensembl Gene ENSMUSG00000021957
Gene Nametransketolase
Synonymsp68
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00954
Quality Score
Status
Chromosome14
Chromosomal Location30548359-30574720 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 30569095 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 355 (H355Y)
Ref Sequence ENSEMBL: ENSMUSP00000022529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022529]
Predicted Effect probably damaging
Transcript: ENSMUST00000022529
AA Change: H355Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022529
Gene: ENSMUSG00000021957
AA Change: H355Y

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 unknown
Transcript: ENSMUST00000223717
AA Change: H233Y
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225857
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,839,685 probably benign Het
Alox5 A T 6: 116,454,299 V56D probably damaging Het
Atp1a2 A G 1: 172,290,634 S158P probably damaging Het
B3glct T A 5: 149,696,437 M19K probably benign Het
BC049715 A T 6: 136,840,095 E111V possibly damaging Het
Casp8ap2 C A 4: 32,645,403 T1492K probably damaging Het
Cfap221 T C 1: 119,934,209 E612G probably damaging Het
Cttnbp2 C A 6: 18,381,062 K868N possibly damaging Het
Dpy19l2 T A 9: 24,582,818 N672I probably damaging Het
Ei24 A T 9: 36,789,870 I51N probably damaging Het
Gdi2 T C 13: 3,556,467 V181A probably benign Het
Ggt1 G A 10: 75,584,863 R354Q probably benign Het
H2afy A G 13: 56,074,319 S340P possibly damaging Het
Hao1 A G 2: 134,498,261 I370T possibly damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Jag2 G T 12: 112,920,406 S184R possibly damaging Het
Kctd16 A G 18: 40,258,800 D147G probably benign Het
Kiss1r T C 10: 79,922,000 L396P probably damaging Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lrrc66 G T 5: 73,608,398 T434K possibly damaging Het
Mcm5 A T 8: 75,110,112 N64Y possibly damaging Het
Mroh2b A T 15: 4,903,054 Y54F probably damaging Het
Olfr122 T A 17: 37,772,614 N329K probably benign Het
Olfr830 T A 9: 18,876,073 S249T probably benign Het
Osgep T A 14: 50,916,162 I320F probably benign Het
Pcdh18 T A 3: 49,756,389 D159V probably damaging Het
Phf20l1 G A 15: 66,641,908 V978I probably damaging Het
Phospho1 T A 11: 95,831,083 V193E probably damaging Het
Pip4k2b T C 11: 97,744,505 K34E probably damaging Het
Plb1 T C 5: 32,298,514 probably benign Het
Safb2 A G 17: 56,578,639 probably null Het
Sgsh T A 11: 119,346,485 E434D probably benign Het
Tmem128 A G 5: 38,262,045 N47S probably damaging Het
Tmem232 A G 17: 65,500,153 I15T probably damaging Het
Tns1 A C 1: 73,924,969 V1501G probably damaging Het
Vmn2r24 G A 6: 123,815,637 C641Y probably damaging Het
Vmn2r77 A G 7: 86,800,767 T74A probably benign Het
Zfp820 T C 17: 21,819,879 Y156C probably damaging Het
Other mutations in Tkt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02122:Tkt APN 14 30571201 missense possibly damaging 0.95
IGL02323:Tkt APN 14 30571035 missense possibly damaging 0.69
IGL02326:Tkt APN 14 30572225 missense probably damaging 0.99
IGL02554:Tkt APN 14 30558780 missense probably damaging 1.00
IGL03145:Tkt APN 14 30560688 splice site probably benign
R0148:Tkt UTSW 14 30572220 missense probably damaging 1.00
R0732:Tkt UTSW 14 30571140 splice site probably null
R1550:Tkt UTSW 14 30565568 missense probably damaging 1.00
R2218:Tkt UTSW 14 30567061 critical splice donor site probably null
R4464:Tkt UTSW 14 30568274 missense possibly damaging 0.86
R4771:Tkt UTSW 14 30567025 missense probably damaging 0.97
R4998:Tkt UTSW 14 30565542 nonsense probably null
R5123:Tkt UTSW 14 30565646 missense probably benign 0.11
R5240:Tkt UTSW 14 30565678 missense probably damaging 1.00
R5283:Tkt UTSW 14 30560618 missense probably damaging 1.00
R5777:Tkt UTSW 14 30558776 missense possibly damaging 0.88
R6051:Tkt UTSW 14 30568196 missense probably benign 0.27
R6517:Tkt UTSW 14 30549323 missense probably damaging 0.96
R6645:Tkt UTSW 14 30570211 missense probably damaging 1.00
R6722:Tkt UTSW 14 30569084 missense probably damaging 1.00
R7120:Tkt UTSW 14 30559822 missense probably benign 0.03
R7179:Tkt UTSW 14 30559858 missense probably damaging 1.00
R7272:Tkt UTSW 14 30565607 missense probably damaging 1.00
R7274:Tkt UTSW 14 30569145 splice site probably null
R7402:Tkt UTSW 14 30558798 missense probably damaging 1.00
R7423:Tkt UTSW 14 30571035 missense possibly damaging 0.69
R7522:Tkt UTSW 14 30568223 missense possibly damaging 0.52
R7712:Tkt UTSW 14 30558806 missense probably benign 0.00
Posted On2013-04-17