Incidental Mutation 'IGL02037:Fn3k'
ID 184557
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fn3k
Ensembl Gene ENSMUSG00000025175
Gene Name fructosamine 3 kinase
Synonyms 2310074G21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL02037
Quality Score
Status
Chromosome 11
Chromosomal Location 121325779-121341316 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121325909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 32 (Y32F)
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: Y32F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000026175
Gene: ENSMUSG00000025175
AA Change: Y32F

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 probably benign
Transcript: ENSMUST00000092302
AA Change: Y32F

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000089955
Gene: ENSMUSG00000025175
AA Change: Y32F

DomainStartEndE-ValueType
Pfam:Fructosamin_kin 1 160 1.5e-20 PFAM
Pfam:APH 20 142 6.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103014
AA Change: Y32F

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099303
Gene: ENSMUSG00000025175
AA Change: Y32F

DomainStartEndE-ValueType
Pfam:Fructosamin_kin 1 160 2.2e-20 PFAM
Pfam:APH 20 148 1e-8 PFAM
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T A 6: 92,804,997 (GRCm39) probably benign Het
Ace2 T A X: 162,946,996 (GRCm39) V293D probably damaging Het
Adgrg6 T C 10: 14,317,185 (GRCm39) Y545C probably damaging Het
Arhgap40 A G 2: 158,376,742 (GRCm39) T293A probably damaging Het
Arhgef19 A G 4: 140,973,707 (GRCm39) T65A probably damaging Het
Brf1 A G 12: 112,956,682 (GRCm39) probably null Het
Cbfb T C 8: 105,905,252 (GRCm39) S65P possibly damaging Het
Chsy1 T C 7: 65,821,576 (GRCm39) S604P possibly damaging Het
Ckmt1 T C 2: 121,191,643 (GRCm39) V271A probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd2 T C 4: 128,371,263 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,038,559 (GRCm39) probably benign Het
Dsg1c A G 18: 20,410,007 (GRCm39) T492A probably benign Het
Fam3a G A X: 73,430,241 (GRCm39) T156I probably damaging Het
Fbn2 A T 18: 58,229,087 (GRCm39) C708S probably damaging Het
Fgf5 G A 5: 98,409,831 (GRCm39) G127R probably damaging Het
Fhip1a T G 3: 85,637,939 (GRCm39) K120T probably damaging Het
Frem3 T C 8: 81,338,118 (GRCm39) I137T probably benign Het
Hc T C 2: 34,903,531 (GRCm39) D1041G probably benign Het
Heatr6 T A 11: 83,655,708 (GRCm39) probably benign Het
Hivep1 G A 13: 42,309,553 (GRCm39) A598T probably benign Het
Ifngr1 T C 10: 19,483,007 (GRCm39) S254P probably benign Het
Kel T C 6: 41,674,408 (GRCm39) S341G probably benign Het
Klra6 A C 6: 129,990,439 (GRCm39) M224R probably benign Het
Mis18bp1 A G 12: 65,183,522 (GRCm39) probably null Het
Mpeg1 C T 19: 12,440,660 (GRCm39) T706I probably benign Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Or5al7 G T 2: 85,993,181 (GRCm39) F37L probably benign Het
Palld T C 8: 61,978,148 (GRCm39) R881G probably damaging Het
Pdha2 A T 3: 140,916,662 (GRCm39) V282E probably damaging Het
Pga5 C T 19: 10,654,065 (GRCm39) R46Q probably benign Het
Plekhg2 T C 7: 28,068,122 (GRCm39) Y189C probably damaging Het
Rnf43 A G 11: 87,622,479 (GRCm39) T527A probably benign Het
Rplp0 G A 5: 115,699,174 (GRCm39) R73Q probably benign Het
Smco3 A G 6: 136,808,197 (GRCm39) *226R probably null Het
Sugp2 T C 8: 70,712,324 (GRCm39) probably benign Het
Tsga10 T C 1: 37,846,098 (GRCm39) I343V probably benign Het
Ube2q2 A G 9: 55,075,502 (GRCm39) K104E probably damaging Het
Ube3a C T 7: 58,925,506 (GRCm39) probably benign Het
Usp11 T C X: 20,585,381 (GRCm39) I785T probably damaging Het
Vmn2r22 A T 6: 123,626,026 (GRCm39) C137S probably damaging Het
Zfp281 T C 1: 136,555,185 (GRCm39) V721A possibly damaging Het
Zfp946 T C 17: 22,672,469 (GRCm39) S23P probably damaging Het
Zfyve1 A G 12: 83,594,694 (GRCm39) V766A probably damaging Het
Other mutations in Fn3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-05-07