Incidental Mutation 'R2443:Tkfc'
ID 249893
Institutional Source Beutler Lab
Gene Symbol Tkfc
Ensembl Gene ENSMUSG00000034371
Gene Name triokinase, FMN cyclase
Synonyms Dak
MMRRC Submission 040401-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R2443 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 10565155-10583018 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10571902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 378 (L378P)
Ref Sequence ENSEMBL: ENSMUSP00000044556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037678]
AlphaFold Q8VC30
Predicted Effect probably damaging
Transcript: ENSMUST00000037678
AA Change: L378P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044556
Gene: ENSMUSG00000034371
AA Change: L378P

DomainStartEndE-ValueType
Pfam:Dak1 19 335 1.9e-112 PFAM
low complexity region 352 366 N/A INTRINSIC
Dak2 398 571 1.47e-58 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the family of dihydroxyacetone kinases, which have a protein structure distinct from other kinases. The product of this gene phosphorylates dihydroxyacetone, and also catalyzes the formation of riboflavin 4',5'-phosphate (aka cyclin FMN) from FAD. Several alternatively spliced transcript variants have been identified, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc13 C T 9: 102,511,222 (GRCm39) P37S probably damaging Het
Asxl3 T A 18: 22,544,596 (GRCm39) D39E probably benign Het
Cfap91 A G 16: 38,123,094 (GRCm39) Y645H probably damaging Het
Clec4d G A 6: 123,245,076 (GRCm39) V119M probably benign Het
Dennd11 T C 6: 40,383,710 (GRCm39) D444G probably damaging Het
Dlx2 A G 2: 71,376,349 (GRCm39) S130P probably benign Het
Dync2li1 C A 17: 84,955,093 (GRCm39) Q251K probably benign Het
Edem1 A T 6: 108,828,230 (GRCm39) K518N probably benign Het
Elapor1 A T 3: 108,388,665 (GRCm39) N239K probably damaging Het
Fbln2 T C 6: 91,236,693 (GRCm39) V736A probably damaging Het
Fga A G 3: 82,935,848 (GRCm39) K25R probably benign Het
Hmcn1 C A 1: 150,474,783 (GRCm39) R4701S probably benign Het
Ighv8-5 G A 12: 115,031,440 (GRCm39) P33L probably damaging Het
Kcnip3 T A 2: 127,301,983 (GRCm39) I194F probably damaging Het
Kif26b A C 1: 178,742,579 (GRCm39) I892L probably damaging Het
Krt78 C T 15: 101,855,033 (GRCm39) G926E probably damaging Het
Map1b T C 13: 99,566,919 (GRCm39) Y1934C unknown Het
Masp1 A T 16: 23,295,062 (GRCm39) Y400N probably damaging Het
Methig1 T C 15: 100,251,092 (GRCm39) M1T probably null Het
Mmp19 A G 10: 128,634,725 (GRCm39) E447G possibly damaging Het
Ms4a6d G A 19: 11,567,557 (GRCm39) H115Y possibly damaging Het
Myo1e C T 9: 70,234,454 (GRCm39) S269L probably benign Het
Myo7a G A 7: 97,744,976 (GRCm39) T288I probably benign Het
Npy5r T A 8: 67,133,942 (GRCm39) K284* probably null Het
Oas3 C A 5: 120,915,553 (GRCm39) R46L probably benign Het
Or5l14 A T 2: 87,793,209 (GRCm39) V9E possibly damaging Het
Pkd1l3 T A 8: 110,350,447 (GRCm39) S431T probably benign Het
Pnpla2 T C 7: 141,037,982 (GRCm39) V184A possibly damaging Het
Pomt2 C A 12: 87,180,154 (GRCm39) K282N probably damaging Het
Psmd12 T A 11: 107,386,563 (GRCm39) M378K probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Strn3 A T 12: 51,674,618 (GRCm39) Y389N probably damaging Het
Tdrd1 C T 19: 56,829,786 (GRCm39) A220V probably null Het
Tecpr2 T G 12: 110,862,759 (GRCm39) L57R probably damaging Het
Tmprss2 T G 16: 97,369,703 (GRCm39) D357A possibly damaging Het
Tollip C T 7: 141,444,560 (GRCm39) W64* probably null Het
Vcan A G 13: 89,852,794 (GRCm39) F722S probably damaging Het
Vcp A T 4: 42,983,385 (GRCm39) N558K probably damaging Het
Vmn1r232 A G 17: 21,133,646 (GRCm39) I318T probably damaging Het
Vmn1r33 A T 6: 66,588,957 (GRCm39) I199K possibly damaging Het
Zfp61 A G 7: 23,991,194 (GRCm39) V319A probably benign Het
Zfyve28 A G 5: 34,374,238 (GRCm39) V592A possibly damaging Het
Other mutations in Tkfc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Tkfc APN 19 10,571,892 (GRCm39) missense probably benign 0.28
IGL01149:Tkfc APN 19 10,578,015 (GRCm39) missense probably damaging 1.00
IGL02726:Tkfc APN 19 10,573,576 (GRCm39) missense possibly damaging 0.67
IGL03069:Tkfc APN 19 10,576,518 (GRCm39) missense probably benign
R1367:Tkfc UTSW 19 10,570,838 (GRCm39) missense probably benign 0.19
R1476:Tkfc UTSW 19 10,572,690 (GRCm39) missense probably null 0.55
R2081:Tkfc UTSW 19 10,574,742 (GRCm39) missense probably damaging 1.00
R2130:Tkfc UTSW 19 10,573,405 (GRCm39) missense probably damaging 0.97
R2151:Tkfc UTSW 19 10,576,421 (GRCm39) missense probably damaging 1.00
R3104:Tkfc UTSW 19 10,574,357 (GRCm39) nonsense probably null
R3105:Tkfc UTSW 19 10,574,357 (GRCm39) nonsense probably null
R3106:Tkfc UTSW 19 10,574,357 (GRCm39) nonsense probably null
R5027:Tkfc UTSW 19 10,570,023 (GRCm39) splice site probably null
R5601:Tkfc UTSW 19 10,571,927 (GRCm39) missense probably benign
R5637:Tkfc UTSW 19 10,571,897 (GRCm39) missense probably benign 0.00
R5933:Tkfc UTSW 19 10,574,711 (GRCm39) missense probably benign 0.17
R6792:Tkfc UTSW 19 10,571,888 (GRCm39) missense probably benign
R6845:Tkfc UTSW 19 10,576,696 (GRCm39) missense probably damaging 0.99
R6909:Tkfc UTSW 19 10,573,630 (GRCm39) missense probably benign 0.06
R7007:Tkfc UTSW 19 10,573,727 (GRCm39) missense probably benign
R7883:Tkfc UTSW 19 10,572,394 (GRCm39) splice site probably null
R8962:Tkfc UTSW 19 10,570,700 (GRCm39) missense probably damaging 1.00
R9039:Tkfc UTSW 19 10,573,612 (GRCm39) missense probably damaging 1.00
R9254:Tkfc UTSW 19 10,574,712 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCACGAAAGCTCCTAAATGTTC -3'
(R):5'- ATGGCCAAGGTCTCTGTGAC -3'

Sequencing Primer
(F):5'- AAAGCTCCTAAATGTTCTTGAAATTG -3'
(R):5'- TGAAGCCACTGCAGCAG -3'
Posted On 2014-11-12