Incidental Mutation 'IGL02798:Tktl2'
ID360052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tktl2
Ensembl Gene ENSMUSG00000025519
Gene Nametransketolase-like 2
Synonyms4933401I19Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.550) question?
Stock #IGL02798
Quality Score
Status
Chromosome8
Chromosomal Location66511756-66518335 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 66513311 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 507 (K507R)
Ref Sequence ENSEMBL: ENSMUSP00000138388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002025] [ENSMUST00000183187]
Predicted Effect probably benign
Transcript: ENSMUST00000002025
AA Change: K507R

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000002025
Gene: ENSMUSG00000025519
AA Change: K507R

DomainStartEndE-ValueType
Pfam:DXP_synthase_N 2 195 2.4e-9 PFAM
Pfam:Transketolase_N 16 281 4.6e-50 PFAM
Pfam:TPP_enzyme_C 108 250 5.9e-8 PFAM
Pfam:E1_dh 111 249 2.9e-13 PFAM
Transket_pyr 320 484 3.74e-51 SMART
Pfam:Transketolase_C 495 617 1.4e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183187
AA Change: K507R

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000138388
Gene: ENSMUSG00000025519
AA Change: K507R

DomainStartEndE-ValueType
Pfam:DXP_synthase_N 2 197 8.2e-9 PFAM
Pfam:Transketolase_N 16 280 2.2e-86 PFAM
Pfam:TPP_enzyme_C 108 250 5.9e-8 PFAM
Pfam:E1_dh 110 251 2.1e-14 PFAM
Transket_pyr 320 484 3.74e-51 SMART
Pfam:Transketolase_C 495 617 3.4e-30 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,040,275 C514S probably damaging Het
Alcam A G 16: 52,305,639 I105T probably damaging Het
Arhgef10l A T 4: 140,565,130 probably null Het
Arhgef17 A G 7: 100,929,626 V705A probably benign Het
C87436 T A 6: 86,446,202 C253S probably benign Het
Cbx7 T C 15: 79,918,399 T226A probably damaging Het
Cdh20 T C 1: 104,947,465 I324T probably damaging Het
Celsr3 A T 9: 108,843,575 H2608L probably damaging Het
Cramp1l A G 17: 24,968,920 probably benign Het
Ddx25 A G 9: 35,551,397 C231R probably damaging Het
Emilin2 A G 17: 71,256,695 probably benign Het
Fam46a A T 9: 85,324,884 V287E probably damaging Het
Hip1r T C 5: 123,994,712 probably benign Het
Insrr C T 3: 87,810,517 P842S probably damaging Het
Lama1 G T 17: 67,795,191 probably benign Het
Lig3 T C 11: 82,795,705 probably benign Het
Lrp4 C A 2: 91,476,710 T392K probably benign Het
Msl2 G T 9: 101,075,377 R33S probably benign Het
Nrde2 T A 12: 100,143,822 K317* probably null Het
Nub1 C A 5: 24,692,814 A42D probably damaging Het
Obox2 T C 7: 15,396,882 V13A possibly damaging Het
Olfr1341 T C 4: 118,709,499 F31L probably damaging Het
Olfr202 A T 16: 59,284,115 C127* probably null Het
Olfr729 T A 14: 50,148,378 K165N probably benign Het
Phkb T C 8: 86,043,777 Y892H probably benign Het
Ptdss1 A G 13: 66,976,760 Y341C probably damaging Het
Ripor2 A T 13: 24,674,666 D147V probably damaging Het
Scn7a T C 2: 66,713,875 D424G probably benign Het
Scn9a C T 2: 66,540,559 R559Q possibly damaging Het
Sctr G A 1: 120,022,180 C33Y probably damaging Het
Sh2b2 G T 5: 136,221,963 A419E probably damaging Het
Slc22a30 A T 19: 8,370,085 M317K probably damaging Het
Slc39a4 T C 15: 76,615,182 S178G probably benign Het
Slc7a12 T A 3: 14,481,157 C121S probably damaging Het
Slmap T C 14: 26,470,378 S148G possibly damaging Het
Ttn T G 2: 76,755,863 K21841N probably damaging Het
Ugcg T C 4: 59,220,346 Y380H probably damaging Het
Zfp106 T C 2: 120,510,510 T1840A probably damaging Het
Zmynd8 T C 2: 165,852,150 probably null Het
Other mutations in Tktl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Tktl2 APN 8 66512896 missense probably benign 0.00
IGL02444:Tktl2 APN 8 66513361 missense possibly damaging 0.60
IGL02938:Tktl2 APN 8 66512330 missense probably damaging 1.00
IGL03095:Tktl2 APN 8 66512284 missense probably damaging 1.00
R0530:Tktl2 UTSW 8 66513179 missense probably damaging 0.99
R0899:Tktl2 UTSW 8 66512347 missense probably damaging 0.98
R0900:Tktl2 UTSW 8 66512347 missense probably damaging 0.98
R1080:Tktl2 UTSW 8 66512347 missense probably damaging 0.98
R1419:Tktl2 UTSW 8 66513038 missense probably damaging 0.97
R1609:Tktl2 UTSW 8 66512852 missense probably benign 0.04
R1717:Tktl2 UTSW 8 66512347 missense probably damaging 0.98
R1718:Tktl2 UTSW 8 66512347 missense probably damaging 0.98
R1719:Tktl2 UTSW 8 66512347 missense probably damaging 0.98
R1848:Tktl2 UTSW 8 66512347 missense probably damaging 0.98
R1933:Tktl2 UTSW 8 66512347 missense probably damaging 0.98
R1934:Tktl2 UTSW 8 66512347 missense probably damaging 0.98
R2134:Tktl2 UTSW 8 66512347 missense probably damaging 0.98
R2135:Tktl2 UTSW 8 66512347 missense probably damaging 0.98
R2314:Tktl2 UTSW 8 66513143 missense probably damaging 1.00
R2509:Tktl2 UTSW 8 66512852 missense probably benign 0.04
R2511:Tktl2 UTSW 8 66512852 missense probably benign 0.04
R2965:Tktl2 UTSW 8 66512063 missense probably benign 0.01
R3084:Tktl2 UTSW 8 66513206 missense possibly damaging 0.88
R3085:Tktl2 UTSW 8 66513206 missense possibly damaging 0.88
R3121:Tktl2 UTSW 8 66512156 missense probably damaging 0.98
R3499:Tktl2 UTSW 8 66513245 missense probably damaging 0.97
R4227:Tktl2 UTSW 8 66513699 splice site probably null
R4284:Tktl2 UTSW 8 66513156 missense probably damaging 1.00
R4491:Tktl2 UTSW 8 66512012 missense probably damaging 0.96
R5478:Tktl2 UTSW 8 66513398 missense probably damaging 0.99
R5801:Tktl2 UTSW 8 66513647 missense probably benign 0.00
R6656:Tktl2 UTSW 8 66512729 missense probably benign
R6864:Tktl2 UTSW 8 66512339 missense probably damaging 1.00
R6915:Tktl2 UTSW 8 66513035 missense probably damaging 1.00
R7168:Tktl2 UTSW 8 66513101 missense probably damaging 1.00
R7442:Tktl2 UTSW 8 66512909 missense possibly damaging 0.95
R7617:Tktl2 UTSW 8 66512999 missense probably benign 0.07
R7687:Tktl2 UTSW 8 66513101 missense probably damaging 1.00
RF006:Tktl2 UTSW 8 66512852 missense probably benign 0.31
Posted On2015-12-18