Incidental Mutation 'R7617:Tktl2'
ID 588961
Institutional Source Beutler Lab
Gene Symbol Tktl2
Ensembl Gene ENSMUSG00000025519
Gene Name transketolase-like 2
Synonyms 4933401I19Rik
MMRRC Submission 045684-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R7617 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 66964408-66970987 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66965651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 403 (D403G)
Ref Sequence ENSEMBL: ENSMUSP00000138388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002025] [ENSMUST00000183187]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002025
AA Change: D403G

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000002025
Gene: ENSMUSG00000025519
AA Change: D403G

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: D403G

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000138388
Gene: ENSMUSG00000025519
AA Change: D403G

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: 99.0%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T G 7: 120,102,694 (GRCm39) Y864* probably null Het
Abhd2 T C 7: 78,998,032 (GRCm39) M188T probably benign Het
Adamtsl3 T A 7: 82,206,054 (GRCm39) probably null Het
Ankrd36 G T 11: 5,637,348 (GRCm39) V1306L probably benign Het
Ankrd50 C A 3: 38,538,831 (GRCm39) probably benign Het
Btbd2 T C 10: 80,482,226 (GRCm39) D258G probably damaging Het
Cabin1 C T 10: 75,568,277 (GRCm39) R75K possibly damaging Het
Carmil3 A G 14: 55,735,348 (GRCm39) N507S probably benign Het
Cntn1 A G 15: 92,143,970 (GRCm39) E311G probably damaging Het
Csnk1a1 T C 18: 61,718,387 (GRCm39) M371T unknown Het
Dnah1 A T 14: 31,006,739 (GRCm39) V2192E possibly damaging Het
Entrep3 T A 3: 89,092,278 (GRCm39) I199N probably damaging Het
Grip2 A C 6: 91,742,031 (GRCm39) probably null Het
Gxylt2 G T 6: 100,760,146 (GRCm39) W227L probably damaging Het
Ighv6-5 G T 12: 114,380,626 (GRCm39) probably benign Het
Jak1 T A 4: 101,031,408 (GRCm39) probably null Het
Jakmip1 A G 5: 37,328,345 (GRCm39) D393G possibly damaging Het
Klf10 A T 15: 38,297,080 (GRCm39) V320E probably damaging Het
Krt87 A T 15: 101,336,426 (GRCm39) C76S probably benign Het
Myh1 A G 11: 67,106,701 (GRCm39) D1261G possibly damaging Het
Myo18b A C 5: 112,905,319 (GRCm39) probably null Het
Or4c124 T A 2: 89,155,723 (GRCm39) D267V probably damaging Het
Oxct2a A C 4: 123,217,150 (GRCm39) L77R probably damaging Het
P2rx2 A T 5: 110,489,950 (GRCm39) C172S probably damaging Het
P3h3 A G 6: 124,832,969 (GRCm39) Y195H probably damaging Het
Pex11b T C 3: 96,544,107 (GRCm39) probably null Het
Ppm1j T A 3: 104,691,059 (GRCm39) Y274* probably null Het
Scn9a A T 2: 66,370,893 (GRCm39) D562E possibly damaging Het
Slc14a2 A G 18: 78,203,156 (GRCm39) V557A probably benign Het
Slc9b2 T C 3: 135,042,221 (GRCm39) I500T probably damaging Het
Sult2a3 C T 7: 13,806,981 (GRCm39) V234I probably benign Het
Tcp10c T G 17: 13,576,100 (GRCm39) L27V probably damaging Het
Tmprss13 G A 9: 45,244,858 (GRCm39) W212* probably null Het
Tspoap1 T G 11: 87,654,451 (GRCm39) S244A probably benign Het
Upb1 A C 10: 75,260,368 (GRCm39) T136P probably benign Het
Wdr25 G A 12: 108,958,819 (GRCm39) G344S possibly damaging Het
Wwp1 T C 4: 19,662,188 (GRCm39) T136A probably benign Het
Zfp354a A G 11: 50,960,751 (GRCm39) T320A probably benign Het
Zfyve16 A G 13: 92,641,070 (GRCm39) Y1225H probably damaging 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
R7687:Tktl2 UTSW 8 66,965,753 (GRCm39) missense probably damaging 1.00
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'- TGGGCCAATCTAACCAAAGAG -3'
(R):5'- GCCAGATAAACAGCGTGTTCTG -3'

Sequencing Primer
(F):5'- CCAAAGAGTTATCGTTCTAGATGGCG -3'
(R):5'- TGTCGAGACAGCATCACTTG -3'
Posted On 2019-10-24