Incidental Mutation 'R6254:Fn3k'
ID 506009
Institutional Source Beutler Lab
Gene Symbol Fn3k
Ensembl Gene ENSMUSG00000025175
Gene Name fructosamine 3 kinase
Synonyms 2310074G21Rik
MMRRC Submission 044371-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R6254 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 121325779-121341316 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121325894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 27 (E27G)
Ref Sequence ENSEMBL: ENSMUSP00000099303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026175] [ENSMUST00000038096] [ENSMUST00000092302] [ENSMUST00000103014]
AlphaFold Q9ER35
Predicted Effect probably benign
Transcript: ENSMUST00000026175
AA Change: E27G

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026175
Gene: ENSMUSG00000025175
AA Change: E27G

DomainStartEndE-ValueType
Pfam:Fructosamin_kin 1 309 2.3e-77 PFAM
Pfam:APH 20 277 4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038096
SMART Domains Protein: ENSMUSP00000038061
Gene: ENSMUSG00000039253

DomainStartEndE-ValueType
Pfam:Fructosamin_kin 1 309 6e-81 PFAM
Pfam:APH 22 267 1.5e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000092302
AA Change: E27G

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000089955
Gene: ENSMUSG00000025175
AA Change: E27G

DomainStartEndE-ValueType
Pfam:Fructosamin_kin 1 160 1.5e-20 PFAM
Pfam:APH 20 142 6.8e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103014
AA Change: E27G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099303
Gene: ENSMUSG00000025175
AA Change: E27G

DomainStartEndE-ValueType
Pfam:Fructosamin_kin 1 160 2.2e-20 PFAM
Pfam:APH 20 148 1e-8 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.4%
Validation Efficiency 100% (82/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,190 (GRCm39) L2F probably damaging Het
Ank2 T A 3: 126,735,453 (GRCm39) probably benign Het
Anpep T G 7: 79,488,981 (GRCm39) D369A probably damaging Het
App T C 16: 84,775,065 (GRCm39) E599G probably damaging Het
Asphd1 C T 7: 126,548,040 (GRCm39) V88I probably benign Het
Atad5 A T 11: 80,018,215 (GRCm39) I1389F probably damaging Het
Blm T C 7: 80,130,090 (GRCm39) N950S probably benign Het
Bsn A T 9: 107,989,065 (GRCm39) M2229K probably damaging Het
Cacna2d2 A G 9: 107,386,415 (GRCm39) M181V probably benign Het
Cadps2 T A 6: 23,329,162 (GRCm39) probably null Het
Cdh1 T A 8: 107,390,430 (GRCm39) V590D probably damaging Het
Cdk5rap2 G A 4: 70,282,269 (GRCm39) T160M probably damaging Het
Cfap97d2 A G 8: 13,756,043 (GRCm39) D26G possibly damaging Het
Cfhr4 A G 1: 139,682,128 (GRCm39) I156T probably damaging Het
Chrna5 A G 9: 54,913,740 (GRCm39) M325V probably benign Het
Clca3a2 A G 3: 144,507,895 (GRCm39) I116T probably benign Het
Cyp2c23 T C 19: 43,993,902 (GRCm39) K488R probably benign Het
Edil3 T A 13: 89,467,848 (GRCm39) I451N probably damaging Het
Exph5 T G 9: 53,284,010 (GRCm39) S364A possibly damaging Het
Fam98c A G 7: 28,853,942 (GRCm39) S209P probably damaging Het
Fat3 G A 9: 15,907,441 (GRCm39) L2854F probably benign Het
Fbxo38 T C 18: 62,638,571 (GRCm39) probably null Het
Fermt2 T C 14: 45,713,516 (GRCm39) D205G probably damaging Het
Fmnl1 G A 11: 103,087,141 (GRCm39) probably benign Het
Foxj2 A G 6: 122,815,098 (GRCm39) H378R probably damaging Het
Fubp1 A G 3: 151,938,045 (GRCm39) K140E possibly damaging Het
Gm7694 A T 1: 170,130,103 (GRCm39) C98* probably null Het
Golgb1 T C 16: 36,734,340 (GRCm39) S1196P probably damaging Het
Gpm6a G A 8: 55,500,431 (GRCm39) probably null Het
Hltf T A 3: 20,117,993 (GRCm39) N80K possibly damaging Het
Il1rap G A 16: 26,514,020 (GRCm39) R251H probably benign Het
Ipo7 T A 7: 109,648,267 (GRCm39) D688E probably benign Het
Itgal T A 7: 126,924,375 (GRCm39) N897K probably damaging Het
Itsn2 A G 12: 4,674,982 (GRCm39) probably null Het
Kcnk13 A G 12: 99,931,631 (GRCm39) probably benign Het
Kdm7a A G 6: 39,147,203 (GRCm39) L248P probably damaging Het
Kmt2c T C 5: 25,554,872 (GRCm39) E1254G possibly damaging Het
Ldah G A 12: 8,325,912 (GRCm39) probably benign Het
Lingo1 T A 9: 56,527,371 (GRCm39) D406V possibly damaging Het
Lratd2 A G 15: 60,695,650 (GRCm39) I32T probably damaging Het
Lrriq1 A T 10: 103,051,312 (GRCm39) V480E probably benign Het
Mtcl1 C T 17: 66,665,129 (GRCm39) R1142H probably benign Het
Mtmr3 G A 11: 4,447,381 (GRCm39) Q360* probably null Het
Muc6 T C 7: 141,237,380 (GRCm39) N252S probably benign Het
Naa20 T C 2: 145,745,240 (GRCm39) L4P probably damaging Het
Neb T A 2: 52,112,973 (GRCm39) I4274L probably benign Het
Noa1 A T 5: 77,457,516 (GRCm39) F130I probably benign Het
Nrg4 G T 9: 55,143,796 (GRCm39) H87N possibly damaging Het
Or51ai2 T A 7: 103,586,741 (GRCm39) H51Q probably benign Het
Or5m12 T A 2: 85,734,849 (GRCm39) Y183F probably damaging Het
P3h3 C T 6: 124,822,564 (GRCm39) E536K probably damaging Het
Pcdhb11 T C 18: 37,554,771 (GRCm39) S34P probably damaging Het
Pik3r1 T C 13: 101,825,914 (GRCm39) T71A possibly damaging Het
Plaur T A 7: 24,166,225 (GRCm39) C99S possibly damaging Het
Plekha5 G A 6: 140,532,162 (GRCm39) G501E probably damaging Het
Plxnd1 C T 6: 115,954,921 (GRCm39) V614M probably benign Het
Ppp2r3d T C 9: 101,025,786 (GRCm39) D307G possibly damaging Het
Prl3d3 C T 13: 27,341,453 (GRCm39) S28F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptk7 C A 17: 46,883,568 (GRCm39) Q832H probably damaging Het
Qser1 T C 2: 104,620,435 (GRCm39) S126G probably benign Het
Rab3ip A T 10: 116,751,772 (GRCm39) C332S probably damaging Het
Raly C A 2: 154,699,286 (GRCm39) T30K probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rps6ka1 C T 4: 133,594,535 (GRCm39) M159I possibly damaging Het
Rufy3 C T 5: 88,732,168 (GRCm39) T57I probably benign Het
Samd4 A G 14: 47,254,088 (GRCm39) D184G probably damaging Het
Slc35f3 T C 8: 127,047,833 (GRCm39) C58R possibly damaging Het
Smarca4 T C 9: 21,611,173 (GRCm39) I1467T probably damaging Het
Spag17 T G 3: 99,972,901 (GRCm39) I1371S probably benign Het
Sptan1 T C 2: 29,897,561 (GRCm39) L1228P possibly damaging Het
Stk31 C T 6: 49,398,631 (GRCm39) A344V probably benign Het
Supt16 A G 14: 52,408,291 (GRCm39) W885R probably damaging Het
Tdrd9 T A 12: 111,992,334 (GRCm39) probably null Het
Tmod1 A G 4: 46,078,469 (GRCm39) probably null Het
Tnfsf13 A C 11: 69,575,309 (GRCm39) probably null Het
Trim75 C A 8: 65,436,094 (GRCm39) E119* probably null Het
Wdr6 T C 9: 108,452,110 (GRCm39) Y591C probably damaging Het
Wdr86 C T 5: 24,923,281 (GRCm39) R137H probably benign Het
Ythdf1 T A 2: 180,552,943 (GRCm39) Y424F probably damaging Het
Zfp984 G T 4: 147,840,643 (GRCm39) S69R possibly damaging Het
Zyg11a A G 4: 108,038,991 (GRCm39) F743L probably damaging 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
R7262:Fn3k UTSW 11 121,339,741 (GRCm39) missense probably damaging 1.00
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'- AGCCTGTGTCAGACAATGTTGTG -3'
(R):5'- CATGCAAGTGCTGGTTGAC -3'

Sequencing Primer
(F):5'- CAATGTTGTGACAGCGCTAC -3'
(R):5'- AAGTGCTGGTTGACCCCTCAG -3'
Posted On 2018-02-28