Incidental Mutation 'R5469:Rfk'
ID433435
Institutional Source Beutler Lab
Gene Symbol Rfk
Ensembl Gene ENSMUSG00000024712
Gene Nameriboflavin kinase
Synonymsflavokinase, 0610038L10Rik, ATP:riboflavin 5'-phosphotransferase
MMRRC Submission 043030-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5469 (G1)
Quality Score225
Status Not validated
Chromosome19
Chromosomal Location17394043-17401349 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 17395202 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 29 (N29K)
Ref Sequence ENSEMBL: ENSMUSP00000025617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025617]
Predicted Effect probably damaging
Transcript: ENSMUST00000025617
AA Change: N29K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025617
Gene: ENSMUSG00000024712
AA Change: N29K

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: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Allc A T 12: 28,555,306 N331K probably benign Het
Anapc1 G T 2: 128,675,701 S341* probably null Het
Cacna1e T C 1: 154,443,937 E1339G probably damaging Het
Cacna2d1 T A 5: 16,352,678 I702N probably damaging Het
Casp2 C A 6: 42,269,334 H209N probably benign Het
Casr A G 16: 36,510,030 V314A probably benign Het
Ccne2 A T 4: 11,201,353 R294* probably null Het
Cd180 T A 13: 102,704,834 H129Q probably benign Het
Chst10 A T 1: 38,865,527 Y362N probably damaging Het
Ctnna1 T A 18: 35,239,520 D509E probably benign Het
Ctsh G T 9: 90,060,511 probably null Het
Dhx29 C T 13: 112,944,539 A369V possibly damaging Het
Enox1 A G 14: 77,592,974 T340A probably benign Het
Fam135b T A 15: 71,446,043 T1357S probably benign Het
Flt3 A T 5: 147,355,083 S544T possibly damaging Het
Gm12689 T C 4: 99,296,165 I85T unknown Het
Gsap A T 5: 21,290,544 Y831F possibly damaging Het
Hnrnpr C T 4: 136,319,434 T142M probably damaging Het
Jak3 A G 8: 71,678,773 D94G probably benign Het
Ktn1 A T 14: 47,690,920 E579D probably damaging Het
Lama2 G A 10: 27,041,189 P2247S possibly damaging Het
Lrba C T 3: 86,542,641 S2089F probably damaging Het
Map1b C T 13: 99,429,338 V2292M unknown Het
Mphosph10 A T 7: 64,389,445 probably null Het
Pappa C T 4: 65,205,152 T908M probably benign Het
Pdcd10 T A 3: 75,521,057 K150* probably null Het
Piezo2 A T 18: 63,027,864 I2275N probably damaging Het
Pmvk T C 3: 89,467,682 probably null Het
Pold2 G A 11: 5,873,048 P376S probably damaging Het
Prtg A T 9: 72,891,965 Q759L probably damaging Het
Rad51ap1 C T 6: 126,928,227 S107N probably damaging Het
Ror2 T C 13: 53,117,339 M315V probably benign Het
Rrn3 A G 16: 13,813,100 E600G probably benign Het
Ryk A G 9: 102,906,954 Y593C possibly damaging Het
Slc30a3 T A 5: 31,088,660 D193V probably damaging Het
Slc35e2 C T 4: 155,610,026 P10L probably benign Het
Srbd1 C A 17: 86,119,942 C421F possibly damaging Het
Sstr5 A C 17: 25,492,069 V62G probably damaging Het
Tfip11 G A 5: 112,334,325 W483* probably null Het
Tlk1 T C 2: 70,721,668 H553R probably benign Het
Tnc T C 4: 64,013,925 probably null Het
Trav12-1 A G 14: 53,538,473 T27A probably damaging Het
Usp9y G A Y: 1,364,714 T1033I probably benign Het
V1ra8 C T 6: 90,203,204 H130Y probably benign Het
Vmn2r77 A T 7: 86,802,063 M386L probably benign Het
Other mutations in Rfk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Rfk APN 19 17395336 missense probably benign
IGL03124:Rfk APN 19 17398595 missense possibly damaging 0.53
PIT4544001:Rfk UTSW 19 17395344 missense probably damaging 1.00
R1193:Rfk UTSW 19 17395321 missense probably damaging 0.99
R2360:Rfk UTSW 19 17398596 missense probably benign 0.01
R3692:Rfk UTSW 19 17399470 splice site probably null
R4151:Rfk UTSW 19 17395308 missense probably benign 0.03
R4428:Rfk UTSW 19 17398595 missense possibly damaging 0.53
R5072:Rfk UTSW 19 17398599 missense possibly damaging 0.79
R5121:Rfk UTSW 19 17399566 missense probably damaging 1.00
R5715:Rfk UTSW 19 17398638 missense probably benign 0.00
R5851:Rfk UTSW 19 17395198 missense probably damaging 1.00
R6050:Rfk UTSW 19 17399532 missense probably benign 0.23
R7658:Rfk UTSW 19 17398682 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCCACTTGGGCATTTTCGTG -3'
(R):5'- AGAGCAAGATGTGACTCTTACC -3'

Sequencing Primer
(F):5'- GAGATTTATACACTTGCTTTGTGCC -3'
(R):5'- GCAAGATGTGACTCTTACCATGGAC -3'
Posted On2016-10-06