Incidental Mutation 'R7687:Tktl2'
ID 593154
Institutional Source Beutler Lab
Gene Symbol Tktl2
Ensembl Gene ENSMUSG00000025519
Gene Name transketolase-like 2
Synonyms 4933401I19Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R7687 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 66964408-66970987 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66965753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 437 (E437G)
Ref Sequence ENSEMBL: ENSMUSP00000138388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002025] [ENSMUST00000183187]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000002025
AA Change: E437G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002025
Gene: ENSMUSG00000025519
AA Change: E437G

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 damaging
Transcript: ENSMUST00000183187
AA Change: E437G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138388
Gene: ENSMUSG00000025519
AA Change: E437G

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,297,341 (GRCm39) K2383R probably benign Het
Acly C T 11: 100,395,680 (GRCm39) probably null Het
Baiap3 T A 17: 25,468,311 (GRCm39) I276F possibly damaging Het
Cdc14b A T 13: 64,357,007 (GRCm39) D419E probably benign Het
Celsr2 G T 3: 108,305,085 (GRCm39) P2165T probably benign Het
Clk4 A G 11: 51,172,225 (GRCm39) D476G probably benign Het
Dera A G 6: 137,813,878 (GRCm39) T10A Het
Dip2c A T 13: 9,654,617 (GRCm39) T742S probably benign Het
Dohh C A 10: 81,223,640 (GRCm39) A231E probably benign Het
Dot1l T G 10: 80,625,202 (GRCm39) S1150A possibly damaging Het
Eea1 T A 10: 95,862,460 (GRCm39) I794N probably benign Het
En2 T C 5: 28,375,287 (GRCm39) S277P probably damaging Het
Erich1 A G 8: 14,080,691 (GRCm39) L276P probably damaging Het
Flnb A G 14: 7,924,224 (GRCm38) N1779S probably damaging Het
Frzb T A 2: 80,254,979 (GRCm39) T186S probably benign Het
Gdf7 T A 12: 8,348,257 (GRCm39) R347* probably null Het
Ighv9-4 T C 12: 114,263,883 (GRCm39) I17V not run Het
Ipo13 G A 4: 117,769,088 (GRCm39) P235S probably benign Het
Itga2 C A 13: 115,002,796 (GRCm39) G565C probably damaging Het
Kcnc4 CCCGCCGCCGCCGCCGCCGCCGC CCCGCCGCCGCCGCCGCCGCCGCCGC 3: 107,365,925 (GRCm39) probably benign Het
Kcnk10 A G 12: 98,401,355 (GRCm39) I440T probably damaging Het
Kdm3a T A 6: 71,576,476 (GRCm39) K779N possibly damaging Het
Kmt2d C T 15: 98,760,001 (GRCm39) D1086N unknown Het
Kntc1 A G 5: 123,897,152 (GRCm39) I172V probably benign Het
Maip1 A G 1: 57,451,003 (GRCm39) E215G probably damaging Het
Mms19 A T 19: 41,943,607 (GRCm39) M417K possibly damaging Het
Mslnl T C 17: 25,962,157 (GRCm39) V185A probably damaging Het
Naa11 A T 5: 97,539,648 (GRCm39) V170E probably benign Het
Ncapg C T 5: 45,857,227 (GRCm39) P980S probably benign Het
Or2aj5 T C 16: 19,424,485 (GRCm39) N310S probably benign Het
Pbxip1 A G 3: 89,355,506 (GRCm39) D675G probably damaging Het
Pdlim5 A G 3: 141,983,608 (GRCm39) S382P probably benign Het
Pkd1l1 T A 11: 8,804,390 (GRCm39) I2184F Het
Plau A G 14: 20,889,866 (GRCm39) Y237C probably damaging Het
Ppl T C 16: 4,915,806 (GRCm39) T586A probably benign Het
Rapgef6 T G 11: 54,551,901 (GRCm39) I923S possibly damaging Het
Rbfox2 C T 15: 77,190,694 (GRCm39) G17D unknown Het
Sema3b T C 9: 107,481,013 (GRCm39) D108G probably damaging Het
Slc6a20a A G 9: 123,485,331 (GRCm39) I297T probably damaging Het
Slit1 A G 19: 41,639,128 (GRCm39) F261L probably benign Het
Tcp10a T A 17: 7,612,507 (GRCm39) V433D probably damaging Het
Tll1 G T 8: 64,574,526 (GRCm39) Y109* probably null Het
Tmem79 A G 3: 88,239,888 (GRCm39) V274A probably damaging Het
Tnfrsf23 G A 7: 143,235,199 (GRCm39) S55L probably benign Het
Ubd T C 17: 37,504,865 (GRCm39) probably null Het
Ubl3 C A 5: 148,442,985 (GRCm39) R105L possibly damaging Het
Ubl7 A T 9: 57,821,867 (GRCm39) D72V probably damaging Het
Wdr55 T C 18: 36,895,076 (GRCm39) S81P probably damaging Het
Wtip T C 7: 33,816,044 (GRCm39) Y344C probably damaging Het
Zfp488 A G 14: 33,692,357 (GRCm39) S269P possibly damaging Het
Zkscan2 A C 7: 123,099,085 (GRCm39) S36A probably benign Het
Other mutations in Tktl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Tktl2 APN 8 66,965,548 (GRCm39) missense probably benign 0.00
IGL02444:Tktl2 APN 8 66,966,013 (GRCm39) missense possibly damaging 0.60
IGL02798:Tktl2 APN 8 66,965,963 (GRCm39) missense probably benign 0.06
IGL02938:Tktl2 APN 8 66,964,982 (GRCm39) missense probably damaging 1.00
IGL03095:Tktl2 APN 8 66,964,936 (GRCm39) missense probably damaging 1.00
R0530:Tktl2 UTSW 8 66,965,831 (GRCm39) missense probably damaging 0.99
R0899:Tktl2 UTSW 8 66,964,999 (GRCm39) missense probably damaging 0.98
R0900:Tktl2 UTSW 8 66,964,999 (GRCm39) missense probably damaging 0.98
R1080:Tktl2 UTSW 8 66,964,999 (GRCm39) missense probably damaging 0.98
R1419:Tktl2 UTSW 8 66,965,690 (GRCm39) missense probably damaging 0.97
R1609:Tktl2 UTSW 8 66,965,504 (GRCm39) missense probably benign 0.04
R1717:Tktl2 UTSW 8 66,964,999 (GRCm39) missense probably damaging 0.98
R1718:Tktl2 UTSW 8 66,964,999 (GRCm39) missense probably damaging 0.98
R1719:Tktl2 UTSW 8 66,964,999 (GRCm39) missense probably damaging 0.98
R1848:Tktl2 UTSW 8 66,964,999 (GRCm39) missense probably damaging 0.98
R1933:Tktl2 UTSW 8 66,964,999 (GRCm39) missense probably damaging 0.98
R1934:Tktl2 UTSW 8 66,964,999 (GRCm39) missense probably damaging 0.98
R2134:Tktl2 UTSW 8 66,964,999 (GRCm39) missense probably damaging 0.98
R2135:Tktl2 UTSW 8 66,964,999 (GRCm39) missense probably damaging 0.98
R2314:Tktl2 UTSW 8 66,965,795 (GRCm39) missense probably damaging 1.00
R2509:Tktl2 UTSW 8 66,965,504 (GRCm39) missense probably benign 0.04
R2511:Tktl2 UTSW 8 66,965,504 (GRCm39) missense probably benign 0.04
R2965:Tktl2 UTSW 8 66,964,715 (GRCm39) missense probably benign 0.01
R3084:Tktl2 UTSW 8 66,965,858 (GRCm39) missense possibly damaging 0.88
R3085:Tktl2 UTSW 8 66,965,858 (GRCm39) missense possibly damaging 0.88
R3121:Tktl2 UTSW 8 66,964,808 (GRCm39) missense probably damaging 0.98
R3499:Tktl2 UTSW 8 66,965,897 (GRCm39) missense probably damaging 0.97
R4227:Tktl2 UTSW 8 66,966,351 (GRCm39) splice site probably null
R4284:Tktl2 UTSW 8 66,965,808 (GRCm39) missense probably damaging 1.00
R4491:Tktl2 UTSW 8 66,964,664 (GRCm39) missense probably damaging 0.96
R5478:Tktl2 UTSW 8 66,966,050 (GRCm39) missense probably damaging 0.99
R5801:Tktl2 UTSW 8 66,966,299 (GRCm39) missense probably benign 0.00
R6656:Tktl2 UTSW 8 66,965,381 (GRCm39) missense probably benign
R6864:Tktl2 UTSW 8 66,964,991 (GRCm39) missense probably damaging 1.00
R6915:Tktl2 UTSW 8 66,965,687 (GRCm39) missense probably damaging 1.00
R7168:Tktl2 UTSW 8 66,965,753 (GRCm39) missense probably damaging 1.00
R7442:Tktl2 UTSW 8 66,965,561 (GRCm39) missense possibly damaging 0.95
R7617:Tktl2 UTSW 8 66,965,651 (GRCm39) missense probably benign 0.07
R8825:Tktl2 UTSW 8 66,966,319 (GRCm39) missense possibly damaging 0.87
R9155:Tktl2 UTSW 8 66,965,858 (GRCm39) missense possibly damaging 0.88
R9176:Tktl2 UTSW 8 66,964,664 (GRCm39) missense probably damaging 0.96
R9352:Tktl2 UTSW 8 66,965,974 (GRCm39) missense possibly damaging 0.88
R9514:Tktl2 UTSW 8 66,965,840 (GRCm39) missense probably damaging 0.98
R9633:Tktl2 UTSW 8 66,965,813 (GRCm39) missense probably benign 0.25
RF006:Tktl2 UTSW 8 66,965,504 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- AAACATGGTAAGTGTGGCCC -3'
(R):5'- ACCTTGTCGACTGCACTCTG -3'

Sequencing Primer
(F):5'- TAAGTGTGGCCCTGGGG -3'
(R):5'- ACTCTGGCGGATCACCTTG -3'
Posted On 2019-11-12