Incidental Mutation 'R6050:Rfk'
ID 483524
Institutional Source Beutler Lab
Gene Symbol Rfk
Ensembl Gene ENSMUSG00000024712
Gene Name riboflavin kinase
Synonyms flavokinase, ATP:riboflavin 5'-phosphotransferase, 0610038L10Rik
MMRRC Submission 044218-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6050 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 17371407-17378713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 17376896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 133 (P133S)
Ref Sequence ENSEMBL: ENSMUSP00000025617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025617]
AlphaFold Q8CFV9
Predicted Effect probably benign
Transcript: ENSMUST00000025617
AA Change: P133S

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025617
Gene: ENSMUSG00000024712
AA Change: P133S

DomainStartEndE-ValueType
Flavokinase 1 131 5.68e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146171
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Ahdc1 A G 4: 132,793,202 (GRCm39) D1481G possibly damaging Het
Ak9 A G 10: 41,265,108 (GRCm39) E955G possibly damaging Het
Aox3 T C 1: 58,219,814 (GRCm39) F1138S possibly damaging Het
Bbs2 T A 8: 94,819,160 (GRCm39) N70Y probably damaging Het
BC048679 T C 7: 81,145,339 (GRCm39) I70V possibly damaging Het
Catspere2 G A 1: 177,931,490 (GRCm39) A470T unknown Het
Ccdc141 G T 2: 76,842,075 (GRCm39) A1452E probably benign Het
Celsr1 T C 15: 85,814,812 (GRCm39) D1883G probably benign Het
Clhc1 A G 11: 29,511,397 (GRCm39) I280M possibly damaging Het
Cmtr1 G T 17: 29,901,108 (GRCm39) K678N probably damaging Het
Daam2 T C 17: 49,793,530 (GRCm39) D329G possibly damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Duox1 C T 2: 122,149,956 (GRCm39) P116S probably benign Het
Fcf1 G A 12: 85,029,017 (GRCm39) C154Y probably damaging Het
Frem2 T C 3: 53,560,433 (GRCm39) N1358S probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gtf3c3 T C 1: 54,445,229 (GRCm39) I608M probably benign Het
Gzf1 G A 2: 148,526,158 (GRCm39) D210N possibly damaging Het
Ift140 C T 17: 25,309,979 (GRCm39) R1129C probably damaging Het
Lias A G 5: 65,551,315 (GRCm39) I83V possibly damaging Het
Mlh3 T C 12: 85,287,620 (GRCm39) T1342A possibly damaging Het
Mn1 A G 5: 111,567,263 (GRCm39) Y411C probably damaging Het
Mrps21 C T 3: 95,770,200 (GRCm39) R43H probably benign Het
Ncam2 C T 16: 81,240,054 (GRCm39) Q172* probably null Het
Notch3 T C 17: 32,362,501 (GRCm39) T1375A probably benign Het
Oga A C 19: 45,753,919 (GRCm39) S652A possibly damaging Het
Ovol3 T A 7: 29,933,819 (GRCm39) Y101F probably benign Het
Pcbp4 T C 9: 106,339,422 (GRCm39) V45A probably benign Het
Plec T C 15: 76,072,458 (GRCm39) E709G probably damaging Het
Prcc G A 3: 87,777,191 (GRCm39) T261I probably damaging Het
Psg25 A G 7: 18,260,403 (GRCm39) V165A probably benign Het
Scaf8 C T 17: 3,218,383 (GRCm39) T251M unknown Het
Sec14l2 T C 11: 4,061,477 (GRCm39) D67G probably benign Het
Smtnl1 A G 2: 84,641,797 (GRCm39) I441T probably damaging Het
Tbce C T 13: 14,173,019 (GRCm39) V471I possibly damaging Het
Tnip1 G A 11: 54,808,703 (GRCm39) R495C probably damaging Het
Trbv19 A G 6: 41,155,944 (GRCm39) K105R probably benign Het
Ttc5 T A 14: 51,010,744 (GRCm39) N229I probably damaging Het
Ush2a T C 1: 188,689,521 (GRCm39) F5028L probably benign Het
Vmn2r24 T C 6: 123,792,691 (GRCm39) S673P probably damaging Het
Zfp780b A T 7: 27,663,727 (GRCm39) I276N probably 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
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
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'- GTAACACTGGCTTTCCCTGG -3'
(R):5'- CAGCTACAGGAAAACGCTTG -3'

Sequencing Primer
(F):5'- GACGGTTCCAACATTGACTG -3'
(R):5'- AGGCAGGTAAGGGACTTT -3'
Posted On 2017-07-14