Incidental Mutation 'PIT4544001:Rfk'
ID 556432
Institutional Source Beutler Lab
Gene Symbol Rfk
Ensembl Gene ENSMUSG00000024712
Gene Name riboflavin kinase
Synonyms flavokinase, ATP:riboflavin 5'-phosphotransferase, 0610038L10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4544001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 17371407-17378713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17372708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 77 (S77P)
Ref Sequence ENSEMBL: ENSMUSP00000025617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025617]
AlphaFold Q8CFV9
Predicted Effect probably damaging
Transcript: ENSMUST00000025617
AA Change: S77P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025617
Gene: ENSMUSG00000024712
AA Change: S77P

DomainStartEndE-ValueType
Flavokinase 1 131 5.68e-42 SMART
Coding Region Coverage
  • 1x: 92.9%
  • 3x: 90.6%
  • 10x: 84.5%
  • 20x: 71.1%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,222,943 (GRCm39) D248G probably damaging Het
Abcc12 A T 8: 87,231,875 (GRCm39) M1358K possibly damaging Het
Adgrl2 C T 3: 148,596,157 (GRCm39) E60K probably damaging Het
Aff3 C T 1: 38,249,443 (GRCm39) A555T probably benign Het
Aspn A T 13: 49,707,458 (GRCm39) K106* probably null Het
Atp8b3 A T 10: 80,366,420 (GRCm39) L281Q probably benign Het
Ccdc54 A T 16: 50,410,343 (GRCm39) C308S possibly damaging Het
Cpa1 T C 6: 30,641,857 (GRCm39) V227A probably benign Het
Dld G A 12: 31,385,556 (GRCm39) Q262* probably null Het
Eif4e3 A T 6: 99,609,314 (GRCm39) W161R probably damaging Het
Epha5 T A 5: 84,479,471 (GRCm39) T178S possibly damaging Het
Erbb2 A T 11: 98,311,865 (GRCm39) T134S probably benign Het
Golga3 A T 5: 110,336,556 (GRCm39) E358D possibly damaging Het
Gon7 A T 12: 102,720,409 (GRCm39) D74E probably benign Het
Hmcn2 A G 2: 31,318,262 (GRCm39) E3869G probably damaging Het
Ifit1bl1 C T 19: 34,571,415 (GRCm39) M347I possibly damaging Het
Ipo5 T A 14: 121,165,949 (GRCm39) D331E probably damaging Het
Mep1a C T 17: 43,793,178 (GRCm39) C355Y probably damaging Het
Nkain1 A G 4: 130,532,098 (GRCm38) S196P probably damaging Het
Nudt21 A T 8: 94,746,225 (GRCm39) F158I unknown Het
Padi3 T C 4: 140,518,794 (GRCm39) T443A probably benign Het
Parpbp A G 10: 87,950,411 (GRCm39) V323A possibly damaging Het
Phkb A G 8: 86,738,266 (GRCm39) I520V probably benign Het
Plxna1 A G 6: 89,334,411 (GRCm39) S73P probably benign Het
Sdk1 A G 5: 141,941,987 (GRCm39) N545S probably benign Het
Setd2 A G 9: 110,380,232 (GRCm39) N1349S probably damaging Het
Slc22a27 T A 19: 7,887,103 (GRCm39) Q262L probably damaging Het
Slc34a3 T C 2: 25,120,607 (GRCm39) D440G probably benign Het
Slc4a4 T C 5: 89,186,402 (GRCm39) L161P probably damaging Het
Stxbp5 A C 10: 9,693,048 (GRCm39) probably null Het
Tekt1 C T 11: 72,245,660 (GRCm39) R165H probably damaging Het
Tmpo T C 10: 90,997,976 (GRCm39) N604D probably benign Het
Trpm1 A T 7: 63,848,998 (GRCm39) probably benign Het
Ubqln3 A C 7: 103,790,550 (GRCm39) H513Q probably damaging Het
Ubr4 A G 4: 139,129,871 (GRCm39) N664D possibly damaging Het
Usp37 G A 1: 74,509,738 (GRCm39) T477I possibly damaging Het
Zbtb11 T G 16: 55,818,556 (GRCm39) L660* probably null 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
R1193:Rfk UTSW 19 17,372,685 (GRCm39) missense probably damaging 0.99
R2360:Rfk UTSW 19 17,375,960 (GRCm39) missense probably benign 0.01
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'- TCCTGGGAGTGTAATGATTCAAG -3'
(R):5'- AGGAATGTCAGTTAGCATACAGC -3'

Sequencing Primer
(F):5'- TGGGAGTGTAATGATTCAAGTTAACG -3'
(R):5'- AGGCTACTTTTCTTCCTGTTATTTG -3'
Posted On 2019-06-07