Incidental Mutation 'R9633:Tktl2'
ID 725669
Institutional Source Beutler Lab
Gene Symbol Tktl2
Ensembl Gene ENSMUSG00000025519
Gene Name transketolase-like 2
Synonyms 4933401I19Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R9633 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 66964408-66970987 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66965813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 457 (V457A)
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: V457A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000002025
Gene: ENSMUSG00000025519
AA Change: V457A

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: V457A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138388
Gene: ENSMUSG00000025519
AA Change: V457A

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 A G 4: 106,613,178 (GRCm39) V319A probably damaging Het
Afap1l1 A C 18: 61,890,795 (GRCm39) S53A possibly damaging Het
Alms1 T A 6: 85,600,125 (GRCm39) N1650K probably damaging Het
Atf6b T A 17: 34,872,507 (GRCm39) V553E possibly damaging Het
Avl9 T A 6: 56,707,634 (GRCm39) I193N probably damaging Het
Ceacam3 A G 7: 16,895,688 (GRCm39) N553D Het
Dnah3 C A 7: 119,550,216 (GRCm39) V389L probably benign Het
Erich6 T C 3: 58,537,277 (GRCm39) M246V probably benign Het
F830016B08Rik A T 18: 60,432,965 (GRCm39) D16V probably damaging Het
Fgfr1 T A 8: 26,060,776 (GRCm39) Y483N probably damaging Het
Fmo4 T A 1: 162,631,191 (GRCm39) M259L probably benign Het
Gnat2 T A 3: 108,002,770 (GRCm39) D59E probably benign Het
Izumo3 T A 4: 92,034,795 (GRCm39) Y94F probably damaging Het
Kcnb2 A T 1: 15,781,444 (GRCm39) H772L probably benign Het
Kcnrg CACAACAA CACAA 14: 61,845,009 (GRCm39) probably benign Het
Krt6b C T 15: 101,586,996 (GRCm39) V259M probably benign Het
Lingo2 A G 4: 35,709,885 (GRCm39) C32R Het
Lrrtm4 C T 6: 80,000,064 (GRCm39) T492M probably damaging Het
Maea T A 5: 33,526,050 (GRCm39) M242K possibly damaging Het
Mdga2 T C 12: 66,736,206 (GRCm39) T341A probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mmadhc A T 2: 50,178,988 (GRCm39) S143R probably benign Het
Ms4a8a A G 19: 11,056,956 (GRCm39) V42A probably benign Het
N4bp2l2 A T 5: 150,585,103 (GRCm39) H292Q probably benign Het
Nkx2-2 A G 2: 147,027,686 (GRCm39) Y85H possibly damaging Het
Pramel14 T C 4: 143,720,818 (GRCm39) K41R possibly damaging Het
Psmb9 T A 17: 34,402,119 (GRCm39) D159V probably damaging Het
Rgs4 T A 1: 169,572,843 (GRCm39) D31V possibly damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc22a14 A G 9: 119,008,528 (GRCm39) S247P probably benign Het
Slc26a7 G A 4: 14,524,540 (GRCm39) T448I possibly damaging Het
Slc7a14 T A 3: 31,278,166 (GRCm39) T480S probably benign Het
Spocd1 T C 4: 129,850,463 (GRCm39) S830P unknown Het
Sycp2 A G 2: 177,998,254 (GRCm39) S1089P probably damaging Het
Tcf4 A T 18: 69,726,382 (GRCm39) probably benign Het
Tmem131 A T 1: 36,847,069 (GRCm39) I1343N probably damaging Het
Tnrc6c G A 11: 117,638,009 (GRCm39) A1164T probably damaging Het
Tomm5 G A 4: 45,107,982 (GRCm39) R18W probably damaging Het
Ubxn7 T C 16: 32,200,248 (GRCm39) S335P probably benign Het
Unc5c A C 3: 141,495,654 (GRCm39) T508P probably damaging Het
Upp1 G A 11: 9,084,909 (GRCm39) M209I Het
Vmn1r213 A G 13: 23,195,519 (GRCm39) D34G unknown Het
Vmn1r235 G T 17: 21,482,330 (GRCm39) W218C possibly damaging Het
Vmn1r235 G T 17: 21,482,329 (GRCm39) W218L probably benign Het
Vmn2r57 T C 7: 41,076,006 (GRCm39) E502G probably benign Het
Wwc2 GCC GCCC 8: 48,304,959 (GRCm39) probably null Het
Zfc3h1 T A 10: 115,247,852 (GRCm39) H1018Q probably damaging Het
Zfp318 T A 17: 46,710,421 (GRCm39) S715T 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
R7617:Tktl2 UTSW 8 66,965,651 (GRCm39) missense probably benign 0.07
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
RF006:Tktl2 UTSW 8 66,965,504 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- ACCCGAGCCTTTGATCAGATC -3'
(R):5'- TCCCTTGTTGAGAAAGCTCCTC -3'

Sequencing Primer
(F):5'- CGAGCCTTTGATCAGATCCGAATG -3'
(R):5'- TCAGCAGCTACTAAGGCTTCATG -3'
Posted On 2022-09-12