Incidental Mutation 'R8270:Fn3k'
ID 639461
Institutional Source Beutler Lab
Gene Symbol Fn3k
Ensembl Gene ENSMUSG00000025175
Gene Name fructosamine 3 kinase
Synonyms 2310074G21Rik
MMRRC Submission 067694-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R8270 (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 T at 121330137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 107 (M107L)
Ref Sequence ENSEMBL: ENSMUSP00000026175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026175] [ENSMUST00000092302] [ENSMUST00000103014]
AlphaFold Q9ER35
Predicted Effect probably benign
Transcript: ENSMUST00000026175
AA Change: M107L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000026175
Gene: ENSMUSG00000025175
AA Change: M107L

DomainStartEndE-ValueType
Pfam:Fructosamin_kin 1 309 2.3e-77 PFAM
Pfam:APH 20 277 4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092302
AA Change: M107L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000089955
Gene: ENSMUSG00000025175
AA Change: M107L

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: M107L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099303
Gene: ENSMUSG00000025175
AA Change: M107L

DomainStartEndE-ValueType
Pfam:Fructosamin_kin 1 160 2.2e-20 PFAM
Pfam:APH 20 148 1e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 98% (52/53)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,651,163 (GRCm39) T3044I probably damaging Het
Apbb1ip C T 2: 22,765,004 (GRCm39) P562S unknown Het
Arhgap44 A G 11: 64,912,860 (GRCm39) M477T possibly damaging Het
Arhgef12 T C 9: 42,882,354 (GRCm39) T1497A probably benign Het
Atp5pd T C 11: 115,307,698 (GRCm39) D91G probably damaging Het
Atp6v0a4 A G 6: 38,051,164 (GRCm39) F405L probably damaging Het
Bicc1 T A 10: 70,767,938 (GRCm39) T893S probably damaging Het
Cacna1i T A 15: 80,257,835 (GRCm39) C1122S probably damaging Het
Capn7 A G 14: 31,080,636 (GRCm39) E369G probably damaging Het
Cass4 T A 2: 172,269,589 (GRCm39) L557Q probably damaging Het
Cdh5 A G 8: 104,839,672 (GRCm39) I48V probably benign Het
Crisp3 T C 17: 40,546,813 (GRCm39) K35R probably benign Het
Csde1 G A 3: 102,946,071 (GRCm39) A22T possibly damaging Het
Ctse T C 1: 131,595,877 (GRCm39) Y190H probably damaging Het
Cyp2d34 T A 15: 82,504,988 (GRCm39) D24V possibly damaging Het
D630045J12Rik A T 6: 38,167,658 (GRCm39) Y981* probably null Het
Dclre1a G A 19: 56,533,382 (GRCm39) T404I possibly damaging Het
Dmc1 T C 15: 79,485,746 (GRCm39) D23G probably damaging Het
Dnah8 C T 17: 31,059,687 (GRCm39) T4429M probably damaging Het
Esf1 A T 2: 139,997,033 (GRCm39) probably benign Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Fxyd5 A G 7: 30,740,854 (GRCm39) L10P probably damaging Het
Gm21958 G A 3: 54,621,633 (GRCm39) probably benign Het
Gm4922 C T 10: 18,659,760 (GRCm39) D321N probably benign Het
Gtf2h3 A G 5: 124,734,050 (GRCm39) *310W probably null Het
Hapln2 G A 3: 87,930,851 (GRCm39) T180I possibly damaging Het
Herc1 T G 9: 66,395,232 (GRCm39) V4189G probably damaging Het
Iqgap1 A G 7: 80,379,875 (GRCm39) V1166A probably damaging Het
Kcnk10 T C 12: 98,401,358 (GRCm39) N439S Het
Klhl3 A T 13: 58,260,968 (GRCm39) M15K Het
Klk1b26 A T 7: 43,665,544 (GRCm39) T151S probably benign Het
Krtap5-1 C A 7: 141,850,199 (GRCm39) C176F unknown Het
Krtap5-3 T A 7: 141,755,693 (GRCm39) C177S unknown Het
Lrrc37 T C 11: 103,434,141 (GRCm39) I3009M unknown Het
Map1a T C 2: 121,129,501 (GRCm39) F180L probably damaging Het
Mfap5 T C 6: 122,498,889 (GRCm39) probably null Het
Nckap1 T A 2: 80,355,008 (GRCm39) H638L possibly damaging Het
Optc C T 1: 133,832,810 (GRCm39) V97M probably benign Het
Or5p78 T A 7: 108,212,150 (GRCm39) I212N probably benign Het
Or8b46 T G 9: 38,450,644 (GRCm39) M151R noncoding transcript Het
Piezo1 A G 8: 123,228,298 (GRCm39) Y330H Het
Ppp1r12b G T 1: 134,803,886 (GRCm39) N424K probably benign Het
Prdm5 T A 6: 65,913,058 (GRCm39) F580L probably damaging Het
Prr27 A C 5: 87,994,171 (GRCm39) K348N possibly damaging Het
Prr30 A G 14: 101,435,822 (GRCm39) Y247H possibly damaging Het
Rbks A T 5: 31,807,810 (GRCm39) probably benign Het
Sec24d T C 3: 123,099,535 (GRCm39) V336A possibly damaging Het
Serac1 A T 17: 6,101,033 (GRCm39) L457H probably damaging Het
Serpina1f A G 12: 103,659,757 (GRCm39) I175T probably damaging Het
Smr2l T C 5: 88,430,383 (GRCm39) V93A possibly damaging Het
Sspo A T 6: 48,426,897 (GRCm39) H242L probably benign Het
Tcaf2 A T 6: 42,606,958 (GRCm39) M332K probably benign Het
Tnrc6a T A 7: 122,769,294 (GRCm39) N361K possibly damaging Het
Trim43b G T 9: 88,967,458 (GRCm39) H393N possibly damaging Het
Ush2a T C 1: 188,176,838 (GRCm39) L1334S probably benign Het
Usp35 T C 7: 96,961,551 (GRCm39) E625G 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
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
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'- AGTGGCTGCTGAGATGCTAC -3'
(R):5'- CATTACTGAAGTGCCACCAAG -3'

Sequencing Primer
(F):5'- ACAGCTCTCACAATACTTTGGG -3'
(R):5'- GAAGCACCATGAATTCCCATCTAAGG -3'
Posted On 2020-07-28