Incidental Mutation 'R2360:Rfk'
ID 247137
Institutional Source Beutler Lab
Gene Symbol Rfk
Ensembl Gene ENSMUSG00000024712
Gene Name riboflavin kinase
Synonyms flavokinase, ATP:riboflavin 5'-phosphotransferase, 0610038L10Rik
MMRRC Submission 040342-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2360 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 17371407-17378713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17375960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 85 (T85A)
Ref Sequence ENSEMBL: ENSMUSP00000025617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025617]
AlphaFold Q8CFV9
Predicted Effect probably benign
Transcript: ENSMUST00000025617
AA Change: T85A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000025617
Gene: ENSMUSG00000024712
AA Change: T85A

DomainStartEndE-ValueType
Flavokinase 1 131 5.68e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146171
Meta Mutation Damage Score 0.0636 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 93% (37/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-out allele die in utero prior to E7.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,274,214 (GRCm39) noncoding transcript Het
Abca14 A G 7: 119,850,431 (GRCm39) E761G probably benign Het
Apc C T 18: 34,394,179 (GRCm39) T35I probably damaging Het
Arhgef2 T A 3: 88,541,723 (GRCm39) I228N probably damaging Het
Atp6v1g2 A G 17: 35,456,638 (GRCm39) E74G probably damaging Het
Ccdc70 A G 8: 22,463,447 (GRCm39) E79G probably damaging Het
Cdc42ep4 A G 11: 113,619,528 (GRCm39) S288P probably damaging Het
Cip2a C T 16: 48,837,828 (GRCm39) Q843* probably null Het
Cpn2 T C 16: 30,078,321 (GRCm39) D460G probably benign Het
Crtam A G 9: 40,884,811 (GRCm39) *393Q probably null Het
Cwc22 A G 2: 77,757,591 (GRCm39) I179T probably damaging Het
Cyp3a41b T C 5: 145,507,221 (GRCm39) M240V probably benign Het
Dnah8 A T 17: 30,896,178 (GRCm39) D864V probably benign Het
Map3k7 T C 4: 31,964,302 (GRCm39) S14P unknown Het
Med25 A G 7: 44,534,566 (GRCm39) S150P probably damaging Het
Mex3b T C 7: 82,517,070 (GRCm39) V71A probably benign Het
Morc3 T C 16: 93,638,275 (GRCm39) L19S probably damaging Het
Morn1 T A 4: 155,176,770 (GRCm39) S98T probably damaging Het
Mthfd1l G T 10: 4,006,771 (GRCm39) A678S probably damaging Het
Napa A G 7: 15,848,083 (GRCm39) Y200C probably damaging Het
Nr5a2 T C 1: 136,876,565 (GRCm39) I33V probably benign Het
Or14j6 A G 17: 38,215,345 (GRCm39) K303E possibly damaging Het
Pcnx1 A G 12: 81,996,960 (GRCm39) D952G probably damaging Het
Phf20l1 G A 15: 66,466,769 (GRCm39) R66Q probably damaging Het
Resf1 A G 6: 149,236,145 (GRCm39) I1488M probably benign Het
Sbno2 T C 10: 79,893,855 (GRCm39) D1179G possibly damaging Het
Serpina3k C T 12: 104,307,166 (GRCm39) Q133* probably null Het
Setd4 T C 16: 93,383,122 (GRCm39) probably benign Het
Sh2d4b C T 14: 40,582,548 (GRCm39) probably null Het
Slc1a6 G A 10: 78,648,718 (GRCm39) V480I possibly damaging Het
Slc39a3 A T 10: 80,867,104 (GRCm39) V214E possibly damaging Het
Tll1 A G 8: 64,504,435 (GRCm39) Y654H probably damaging Het
Traf3ip1 T A 1: 91,427,374 (GRCm39) C115S unknown Het
Vmn1r209 T A 13: 22,989,836 (GRCm39) I285F probably damaging Het
Vmn2r87 G T 10: 130,315,631 (GRCm39) T145K probably damaging Het
Zan T C 5: 137,394,388 (GRCm39) T4484A unknown Het
Zfp768 T C 7: 126,943,810 (GRCm39) E106G probably benign Het
Zfp984 A G 4: 147,839,234 (GRCm39) I539T possibly damaging Het
Other mutations in Rfk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Rfk APN 19 17,372,700 (GRCm39) missense probably benign
IGL03124:Rfk APN 19 17,375,959 (GRCm39) missense possibly damaging 0.53
PIT4544001:Rfk UTSW 19 17,372,708 (GRCm39) missense probably damaging 1.00
R1193:Rfk UTSW 19 17,372,685 (GRCm39) missense probably damaging 0.99
R3692:Rfk UTSW 19 17,376,834 (GRCm39) splice site probably null
R4151:Rfk UTSW 19 17,372,672 (GRCm39) missense probably benign 0.03
R4428:Rfk UTSW 19 17,375,959 (GRCm39) missense possibly damaging 0.53
R5072:Rfk UTSW 19 17,375,963 (GRCm39) missense possibly damaging 0.79
R5121:Rfk UTSW 19 17,376,930 (GRCm39) missense probably damaging 1.00
R5469:Rfk UTSW 19 17,372,566 (GRCm39) missense probably damaging 1.00
R5715:Rfk UTSW 19 17,376,002 (GRCm39) missense probably benign 0.00
R5851:Rfk UTSW 19 17,372,562 (GRCm39) missense probably damaging 1.00
R6050:Rfk UTSW 19 17,376,896 (GRCm39) missense probably benign 0.23
R7658:Rfk UTSW 19 17,376,046 (GRCm39) critical splice donor site probably null
R8863:Rfk UTSW 19 17,372,590 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- CCAGCTGGATGAATTTCAGGG -3'
(R):5'- CCTGGTACTAGGTCAGAGCAAC -3'

Sequencing Primer
(F):5'- GTGTAGCCATCACTGTCCTGG -3'
(R):5'- CCTCACATGGCTACTGAAGGTAAG -3'
Posted On 2014-10-30