Incidental Mutation 'R3499:Tktl2'
ID 273706
Institutional Source Beutler Lab
Gene Symbol Tktl2
Ensembl Gene ENSMUSG00000025519
Gene Name transketolase-like 2
Synonyms 4933401I19Rik
MMRRC Submission 040662-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R3499 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 66964408-66970987 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66965897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 485 (I485N)
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: I485N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002025
Gene: ENSMUSG00000025519
AA Change: I485N

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: I485N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138388
Gene: ENSMUSG00000025519
AA Change: I485N

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
Meta Mutation Damage Score 0.3785 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430571L13Rik A T 9: 107,219,678 (GRCm39) T44S probably damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Ctif A T 18: 75,744,828 (GRCm39) L92Q possibly damaging Het
Dnah11 C A 12: 117,874,758 (GRCm39) D4036Y probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnah6 G C 6: 73,009,616 (GRCm39) A3725G probably benign Het
Ebag9 A G 15: 44,493,528 (GRCm39) N117D probably benign Het
Elf4 C T X: 47,507,942 (GRCm39) E158K probably benign Het
Ephb6 C T 6: 41,593,093 (GRCm39) R444* probably null Het
Fcgbpl1 T A 7: 27,853,980 (GRCm39) I1648K probably benign Het
Fndc1 C T 17: 7,972,416 (GRCm39) M1505I possibly damaging Het
Gpr35 A G 1: 92,911,113 (GRCm39) Y275C probably damaging Het
Hmcn1 A T 1: 150,480,853 (GRCm39) I4441N probably damaging Het
Kif13a T C 13: 46,978,815 (GRCm39) D195G probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Ksr2 C A 5: 117,827,640 (GRCm39) T473K probably damaging Het
Kxd1 T C 8: 70,966,632 (GRCm39) probably null Het
Lyplal1 A G 1: 185,820,857 (GRCm39) S197P possibly damaging Het
Macf1 A T 4: 123,421,098 (GRCm39) L52* probably null Het
Mrgprb5 A G 7: 47,818,661 (GRCm39) S25P probably benign Het
Nucb1 T C 7: 45,148,300 (GRCm39) H171R probably benign Het
Or10d1c A G 9: 38,893,761 (GRCm39) L193P probably damaging Het
Or4a15 A T 2: 89,193,294 (GRCm39) F160I probably benign Het
Or56b35 G A 7: 104,963,607 (GRCm39) C132Y probably damaging Het
Or8h8 A G 2: 86,753,373 (GRCm39) F168L possibly damaging Het
Or8k18 A G 2: 86,085,185 (GRCm39) M284T possibly damaging Het
Prkdc A T 16: 15,585,889 (GRCm39) I2476F probably damaging Het
Ptprf A T 4: 118,082,127 (GRCm39) I1037N probably damaging Het
Ralgapa1 T G 12: 55,741,928 (GRCm39) probably benign Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc28a3 C T 13: 58,721,253 (GRCm39) probably benign Het
Slc44a4 A G 17: 35,140,656 (GRCm39) D283G probably benign Het
Slc6a9 A G 4: 117,714,000 (GRCm39) I105V probably benign Het
Smgc A G 15: 91,726,206 (GRCm39) T51A possibly damaging Het
Smyd5 T A 6: 85,415,172 (GRCm39) L60H probably damaging Het
Spred1 A T 2: 117,005,867 (GRCm39) M210L probably benign Het
Syne2 G A 12: 76,101,752 (GRCm39) probably null Het
Tab3 T C X: 84,658,727 (GRCm39) I418T probably benign Het
Tbc1d12 A T 19: 38,884,478 (GRCm39) E343V possibly damaging Het
Tmem181a T A 17: 6,330,894 (GRCm39) Y51* probably null Het
Tmem229b-ps C T 10: 53,351,223 (GRCm39) noncoding transcript Het
Trip11 A G 12: 101,859,953 (GRCm39) I307T possibly damaging Het
Ttf1 T C 2: 28,955,499 (GRCm39) S288P possibly damaging Het
Zfp395 G T 14: 65,628,742 (GRCm39) R198L possibly 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
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
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'- AACTTCGTTGGTTCCCACTG -3'
(R):5'- GTGACAGCATCCAGAGGTTTG -3'

Sequencing Primer
(F):5'- TCTGTTGGAGAAGACGGACCTTC -3'
(R):5'- CAGCATCCAGAGGTTTGATAGTG -3'
Posted On 2015-04-02