Incidental Mutation 'R6845:Tkfc'
ID 534742
Institutional Source Beutler Lab
Gene Symbol Tkfc
Ensembl Gene ENSMUSG00000034371
Gene Name triokinase, FMN cyclase
Synonyms Dak
MMRRC Submission 044951-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6845 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 10565155-10583018 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10576696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 94 (R94G)
Ref Sequence ENSEMBL: ENSMUSP00000044556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037678]
AlphaFold Q8VC30
Predicted Effect probably damaging
Transcript: ENSMUST00000037678
AA Change: R94G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044556
Gene: ENSMUSG00000034371
AA Change: R94G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 95% (53/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 C A 3: 59,659,539 (GRCm39) P331T probably damaging Het
Adam6a T C 12: 113,507,717 (GRCm39) L30P possibly damaging Het
Cabin1 G A 10: 75,557,342 (GRCm39) R1099W probably damaging Het
Cdon C T 9: 35,398,252 (GRCm39) Q990* probably null Het
Cit T A 5: 116,122,947 (GRCm39) L1421Q probably damaging Het
Cplane1 T C 15: 8,251,388 (GRCm39) S1887P possibly damaging Het
Ddx27 T C 2: 166,864,016 (GRCm39) C242R probably damaging Het
Dlgap5 A T 14: 47,654,020 (GRCm39) V3E possibly damaging Het
Dnah6 A T 6: 73,110,525 (GRCm39) F1687I probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Duoxa1 A T 2: 122,135,672 (GRCm39) Y142* probably null Het
F3 A G 3: 121,526,124 (GRCm39) K229R probably benign Het
Fance A G 17: 28,536,565 (GRCm39) R42G probably damaging Het
Foxs1 T C 2: 152,774,619 (GRCm39) K145E probably benign Het
Gpd1l T C 9: 114,762,785 (GRCm39) M1V probably null Het
Gpr149 T A 3: 62,511,942 (GRCm39) H19L possibly damaging Het
Hmgcs1 T C 13: 120,162,674 (GRCm39) Y213H probably damaging Het
Htra1 C A 7: 130,538,021 (GRCm39) probably benign Het
Il20ra A G 10: 19,635,059 (GRCm39) I433M probably benign Het
Il3ra G C 14: 14,346,517 (GRCm38) probably null Het
Kif11 C T 19: 37,392,565 (GRCm39) L499F probably damaging Het
Kifc3 A G 8: 95,835,307 (GRCm39) M189T probably benign Het
Klk1b3 G A 7: 43,851,127 (GRCm39) A187T probably benign Het
Klre1 T C 6: 129,561,202 (GRCm39) S188P probably damaging Het
Krtap4-13 G A 11: 99,700,192 (GRCm39) probably benign Het
Lgi4 A T 7: 30,760,510 (GRCm39) T22S probably damaging Het
Lrp10 C T 14: 54,707,145 (GRCm39) R661C probably damaging Het
Lrrtm1 A G 6: 77,220,864 (GRCm39) D107G probably benign Het
Mad1l1 C A 5: 139,994,924 (GRCm39) A701S probably damaging Het
Mia2 T A 12: 59,231,064 (GRCm39) Y1237* probably null Het
Mpp4 T C 1: 59,183,963 (GRCm39) D278G probably benign Het
Myh6 G A 14: 55,182,206 (GRCm39) S1734L probably benign Het
Nbeal1 C T 1: 60,320,469 (GRCm39) R2021* probably null Het
Nol4l T C 2: 153,258,582 (GRCm39) T602A probably benign Het
Or5b109 T A 19: 13,211,997 (GRCm39) C128S probably damaging Het
Pcdh15 A T 10: 74,466,465 (GRCm39) H894L probably benign Het
Phldb1 A T 9: 44,627,359 (GRCm39) I362N probably damaging Het
Plcxd2 T A 16: 45,830,223 (GRCm39) probably benign Het
Ppp1r13l G T 7: 19,105,323 (GRCm39) R365L probably damaging Het
Pramel16 T C 4: 143,676,394 (GRCm39) T237A probably benign Het
Rfc1 A T 5: 65,468,459 (GRCm39) S85T possibly damaging Het
Rnf133 A G 6: 23,649,341 (GRCm39) V196A possibly damaging Het
Shank3 T C 15: 89,432,528 (GRCm39) V1016A probably benign Het
Slc22a21 T C 11: 53,870,466 (GRCm39) D73G probably benign Het
Slc34a2 T A 5: 53,226,511 (GRCm39) F545I probably damaging Het
Slc4a7 T A 14: 14,775,000 (GRCm38) M810K probably damaging Het
Ss18 A T 18: 14,788,221 (GRCm39) M83K possibly damaging Het
Tpp2 T A 1: 44,017,668 (GRCm39) C757* probably null Het
Trav13n-4 T C 14: 53,599,856 (GRCm39) L11P probably damaging Het
Trpm4 T C 7: 44,971,753 (GRCm39) M138V possibly damaging Het
Utp18 G A 11: 93,776,582 (GRCm39) probably benign Het
Vps33a A G 5: 123,673,335 (GRCm39) V417A probably benign Het
Zfp207 C T 11: 80,286,317 (GRCm39) probably benign 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
R2443:Tkfc UTSW 19 10,571,902 (GRCm39) missense probably damaging 0.97
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
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'- AAAGTTGAGCCGATCCCCAG -3'
(R):5'- TCTTTCAAGATGACTCCTGTGTAGG -3'

Sequencing Primer
(F):5'- CCCAGTGTAGTTCTTCACAATGAGG -3'
(R):5'- TGTAGGGGTTAGCCATAGCAC -3'
Posted On 2018-09-12