Incidental Mutation 'R7262:Fn3k'
ID 564701
Institutional Source Beutler Lab
Gene Symbol Fn3k
Ensembl Gene ENSMUSG00000025175
Gene Name fructosamine 3 kinase
Synonyms 2310074G21Rik
MMRRC Submission 045353-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R7262 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 121325779-121341316 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121339741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 168 (F168L)
Ref Sequence ENSEMBL: ENSMUSP00000026175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026175] [ENSMUST00000103013]
AlphaFold Q9ER35
Predicted Effect probably damaging
Transcript: ENSMUST00000026175
AA Change: F168L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026175
Gene: ENSMUSG00000025175
AA Change: F168L

DomainStartEndE-ValueType
Pfam:Fructosamin_kin 1 309 2.3e-77 PFAM
Pfam:APH 20 277 4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103013
SMART Domains Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
low complexity region 45 62 N/A INTRINSIC
SCOP:d1b3ua_ 357 742 4e-20 SMART
Pfam:TFCD_C 900 1090 1.4e-74 PFAM
low complexity region 1113 1120 N/A INTRINSIC
Meta Mutation Damage Score 0.6146 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way, fructosamines, are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of fructosamines which may result in deglycation. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele grow and reproduce normally and appear healthy while cellular levels of glycated proteins and free fructoselysine are elevated in several tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,946,137 (GRCm39) probably null Het
Adh5 C A 3: 138,151,133 (GRCm39) A32D possibly damaging Het
Ap1m2 A G 9: 21,213,762 (GRCm39) I295T possibly damaging Het
B230104I21Rik T C 4: 154,434,091 (GRCm39) S92P unknown Het
Carnmt1 A T 19: 18,655,228 (GRCm39) N127I probably benign Het
Ccdc42 A G 11: 68,485,399 (GRCm39) T106A probably damaging Het
Cdcp1 T C 9: 123,002,680 (GRCm39) E797G probably damaging Het
Cep112 T A 11: 108,555,467 (GRCm39) V821D probably damaging Het
Cpvl A T 6: 53,909,500 (GRCm39) V212D probably damaging Het
Cttnbp2nl A T 3: 104,940,062 (GRCm39) N2K probably damaging Het
Cyp2c69 T C 19: 39,875,176 (GRCm39) probably benign Het
Cyp2u1 T C 3: 131,091,605 (GRCm39) D305G probably damaging Het
Dab2ip A G 2: 35,512,298 (GRCm39) probably null Het
Ddx55 T C 5: 124,704,919 (GRCm39) L396P probably benign Het
Dhx34 G A 7: 15,937,623 (GRCm39) A786V probably benign Het
Efcab3 G A 11: 104,745,432 (GRCm39) probably null Het
Ehbp1l1 A T 19: 5,768,474 (GRCm39) L943* probably null Het
Epm2aip1 A G 9: 111,101,728 (GRCm39) T234A probably benign Het
Flot2 T C 11: 77,948,175 (GRCm39) M145T probably damaging Het
Gmfb A T 14: 47,052,386 (GRCm39) C87S probably damaging Het
H2-M3 T C 17: 37,582,084 (GRCm39) F180S probably damaging Het
Havcr2 C T 11: 46,360,388 (GRCm39) T205I probably benign Het
Hdac3 C T 18: 38,078,616 (GRCm39) C123Y probably damaging Het
Itpk1 T C 12: 102,641,712 (GRCm39) E37G possibly damaging Het
Jmjd7 A G 2: 119,862,467 (GRCm39) H283R probably benign Het
Kif26b T C 1: 178,745,219 (GRCm39) S1772P possibly damaging Het
Klhl6 T C 16: 19,801,546 (GRCm39) T70A probably damaging Het
Kntc1 C A 5: 123,925,036 (GRCm39) D1116E probably benign Het
Lama4 T A 10: 38,970,930 (GRCm39) H1498Q probably damaging Het
Lamp1 A T 8: 13,217,296 (GRCm39) T102S probably benign Het
Lrp8 A G 4: 107,704,661 (GRCm39) N168D probably benign Het
Ltbp1 G T 17: 75,671,363 (GRCm39) D1515Y probably damaging Het
Obscn A G 11: 59,006,715 (GRCm39) V1149A probably damaging Het
Or10q1 A T 19: 13,726,535 (GRCm39) T22S probably benign Het
Or4f6 A G 2: 111,838,902 (GRCm39) S210P probably damaging Het
Or52ad1 T C 7: 102,995,764 (GRCm39) R124G probably damaging Het
Pak4 C A 7: 28,264,625 (GRCm39) M92I possibly damaging Het
Pam T C 1: 97,782,448 (GRCm39) K157R Het
Pcdh9 A T 14: 93,253,141 (GRCm39) V1174E probably benign Het
Phf8-ps G A 17: 33,285,971 (GRCm39) T277I probably damaging Het
Ppp1r3a T C 6: 14,719,069 (GRCm39) D615G probably benign Het
Senp1 A T 15: 97,964,379 (GRCm39) D278E probably benign Het
Serpinc1 A G 1: 160,817,229 (GRCm39) N108D probably damaging Het
Srl C A 16: 4,315,415 (GRCm39) A76S probably damaging Het
Tbc1d16 C A 11: 119,045,921 (GRCm39) V509L probably benign Het
Tbc1d24 A G 17: 24,426,820 (GRCm39) F357S probably damaging Het
Tcaf3 A G 6: 42,570,735 (GRCm39) L339P probably damaging Het
Tmem232 A T 17: 65,807,112 (GRCm39) I27N probably benign Het
Ubr2 T C 17: 47,311,665 (GRCm39) D62G probably damaging Het
Vcan T G 13: 89,853,280 (GRCm39) D560A possibly damaging Het
Vmn2r80 T A 10: 79,005,579 (GRCm39) N405K probably damaging Het
Wdhd1 A T 14: 47,489,430 (GRCm39) I701K probably benign Het
Other mutations in Fn3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02037:Fn3k APN 11 121,325,909 (GRCm39) missense probably benign 0.12
IGL02379:Fn3k APN 11 121,325,950 (GRCm39) missense probably benign 0.12
R2158:Fn3k UTSW 11 121,339,712 (GRCm39) missense probably damaging 1.00
R5422:Fn3k UTSW 11 121,340,948 (GRCm39) missense probably damaging 0.99
R6254:Fn3k UTSW 11 121,325,894 (GRCm39) missense probably damaging 0.97
R8196:Fn3k UTSW 11 121,341,222 (GRCm39) missense probably damaging 1.00
R8262:Fn3k UTSW 11 121,339,744 (GRCm39) missense probably benign 0.42
R8270:Fn3k UTSW 11 121,330,137 (GRCm39) missense probably benign 0.03
R8547:Fn3k UTSW 11 121,340,987 (GRCm39) missense probably damaging 1.00
R9725:Fn3k UTSW 11 121,341,191 (GRCm39) missense probably damaging 1.00
Z1177:Fn3k UTSW 11 121,331,100 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AACTATAGCATTTGTTTCTGACCC -3'
(R):5'- GACTCAGTCCTAAGAGGCCC -3'

Sequencing Primer
(F):5'- TCTGACTGTGTAAGCAAGCC -3'
(R):5'- GGCCCCCACATGCATATTATGG -3'
Posted On 2019-06-26