Incidental Mutation 'IGL03124:Rfk'
ID410089
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfk
Ensembl Gene ENSMUSG00000024712
Gene Nameriboflavin kinase
Synonymsflavokinase, 0610038L10Rik, ATP:riboflavin 5'-phosphotransferase
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03124
Quality Score
Status
Chromosome19
Chromosomal Location17394043-17401349 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 17398595 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 84 (H84Q)
Ref Sequence ENSEMBL: ENSMUSP00000025617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025617]
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 0.518 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
1110017D15Rik T C 4: 41,507,287 N170D possibly damaging Het
1700018B08Rik C A 8: 121,541,710 probably benign Het
4931414P19Rik A G 14: 54,595,139 V193A probably benign Het
Acap3 T C 4: 155,905,033 S645P probably benign Het
Alms1 A G 6: 85,678,419 I3316V probably benign Het
Apc T G 18: 34,299,985 H424Q probably damaging Het
BC003331 A G 1: 150,386,425 V88A probably benign Het
Camsap2 A T 1: 136,274,799 probably null Het
Car13 C T 3: 14,656,940 P182L possibly damaging Het
Ccdc87 T G 19: 4,841,054 S525A probably damaging Het
Ces1f T C 8: 93,275,384 N39D probably benign Het
Cyp2j13 C A 4: 96,061,922 A281S possibly damaging Het
Cyp4f15 G A 17: 32,685,812 probably null Het
Fam208b A T 13: 3,574,704 Y1749N probably benign Het
Fat4 C A 3: 38,981,552 R3118S possibly damaging Het
Glg1 C T 8: 111,200,171 V171M probably damaging Het
Hivep1 G T 13: 42,158,904 G1540V possibly damaging Het
Ighm T C 12: 113,421,638 D234G unknown Het
Igsf10 T C 3: 59,319,665 T2196A probably benign Het
Kctd19 T A 8: 105,387,070 Q657L possibly damaging Het
Klhl40 T A 9: 121,780,685 I512N probably damaging Het
Lima1 A T 15: 99,796,734 probably benign Het
Map2k4 A C 11: 65,690,791 I365S probably damaging Het
Mast4 T A 13: 102,738,245 K1346N probably damaging Het
Met T A 6: 17,492,078 F280I probably benign Het
Ncapg A G 5: 45,671,209 T101A probably benign Het
Nup214 T C 2: 31,996,440 F605L probably benign Het
Olfr291 T A 7: 84,856,723 M118K probably damaging Het
Olfr639 G T 7: 104,011,794 Q303K probably benign Het
Olfr873 T A 9: 20,301,163 M322K probably benign Het
Pck2 C T 14: 55,545,333 T373I probably damaging Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Pecr A C 1: 72,277,340 S69A probably benign Het
Pitpnb A G 5: 111,330,830 E6G possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Plbd2 A T 5: 120,493,077 F212I possibly damaging Het
Scp2 T A 4: 108,063,906 I36F probably damaging Het
Slc9a4 A G 1: 40,580,735 T74A probably damaging Het
St6galnac1 G A 11: 116,775,299 A35V probably benign Het
Tmem8 G A 17: 26,116,834 R65Q probably damaging Het
Trav17 T C 14: 53,806,649 V4A probably benign Het
Vmn1r57 A T 7: 5,221,022 H182L possibly damaging Het
Vwa8 A T 14: 79,058,815 probably benign Het
Zgpat A G 2: 181,366,180 Y170C probably benign Het
Other mutations in Rfk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Rfk APN 19 17395336 missense probably benign
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
R5469:Rfk UTSW 19 17395202 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
Posted On2016-08-02