Incidental Mutation 'IGL03124:Rfk'
ID 410089
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03124
Quality Score
Status
Chromosome 19
Chromosomal Location 17371407-17378713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17375959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 84 (H84Q)
Ref Sequence ENSEMBL: ENSMUSP00000025617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025617]
AlphaFold Q8CFV9
Predicted Effect possibly damaging
Transcript: ENSMUST00000025617
AA Change: H84Q

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025617
Gene: ENSMUSG00000024712
AA Change: H84Q

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 0.7290 question?
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik C A 8: 122,268,449 (GRCm39) probably benign Het
4931414P19Rik A G 14: 54,832,596 (GRCm39) V193A probably benign Het
Acap3 T C 4: 155,989,490 (GRCm39) S645P probably benign Het
Alms1 A G 6: 85,655,401 (GRCm39) I3316V probably benign Het
Apc T G 18: 34,433,038 (GRCm39) H424Q probably damaging Het
Camsap2 A T 1: 136,202,537 (GRCm39) probably null Het
Car13 C T 3: 14,722,000 (GRCm39) P182L possibly damaging Het
Ccdc87 T G 19: 4,891,082 (GRCm39) S525A probably damaging Het
Ces1f T C 8: 94,002,012 (GRCm39) N39D probably benign Het
Cyp2j13 C A 4: 95,950,159 (GRCm39) A281S possibly damaging Het
Cyp4f15 G A 17: 32,904,786 (GRCm39) probably null Het
Fat4 C A 3: 39,035,701 (GRCm39) R3118S possibly damaging Het
Glg1 C T 8: 111,926,803 (GRCm39) V171M probably damaging Het
Hivep1 G T 13: 42,312,380 (GRCm39) G1540V possibly damaging Het
Ighm T C 12: 113,385,258 (GRCm39) D234G unknown Het
Igsf10 T C 3: 59,227,086 (GRCm39) T2196A probably benign Het
Kctd19 T A 8: 106,113,702 (GRCm39) Q657L possibly damaging Het
Klhl40 T A 9: 121,609,751 (GRCm39) I512N probably damaging Het
Lima1 A T 15: 99,694,615 (GRCm39) probably benign Het
Map2k4 A C 11: 65,581,617 (GRCm39) I365S probably damaging Het
Mast4 T A 13: 102,874,753 (GRCm39) K1346N probably damaging Het
Met T A 6: 17,492,077 (GRCm39) F280I probably benign Het
Ncapg A G 5: 45,828,551 (GRCm39) T101A probably benign Het
Nup214 T C 2: 31,886,452 (GRCm39) F605L probably benign Het
Odr4 A G 1: 150,262,176 (GRCm39) V88A probably benign Het
Or51k1 G T 7: 103,661,001 (GRCm39) Q303K probably benign Het
Or5ae2 T A 7: 84,505,931 (GRCm39) M118K probably damaging Het
Or7e177 T A 9: 20,212,459 (GRCm39) M322K probably benign Het
Pck2 C T 14: 55,782,790 (GRCm39) T373I probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pecr A C 1: 72,316,499 (GRCm39) S69A probably benign Het
Pgap6 G A 17: 26,335,808 (GRCm39) R65Q probably damaging Het
Pitpnb A G 5: 111,478,696 (GRCm39) E6G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Plbd2 A T 5: 120,631,142 (GRCm39) F212I possibly damaging Het
Scp2 T A 4: 107,921,103 (GRCm39) I36F probably damaging Het
Slc9a4 A G 1: 40,619,895 (GRCm39) T74A probably damaging Het
Spmip6 T C 4: 41,507,287 (GRCm39) N170D possibly damaging Het
St6galnac1 G A 11: 116,666,125 (GRCm39) A35V probably benign Het
Tasor2 A T 13: 3,624,704 (GRCm39) Y1749N probably benign Het
Trav17 T C 14: 54,044,106 (GRCm39) V4A probably benign Het
Vmn1r57 A T 7: 5,224,021 (GRCm39) H182L possibly damaging Het
Vwa8 A T 14: 79,296,255 (GRCm39) probably benign Het
Zgpat A G 2: 181,007,973 (GRCm39) Y170C probably benign Het
Other mutations in Rfk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Rfk APN 19 17,372,700 (GRCm39) missense probably benign
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
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
Posted On 2016-08-02