Incidental Mutation 'R8270:Fn3k'
ID639461
Institutional Source Beutler Lab
Gene Symbol Fn3k
Ensembl Gene ENSMUSG00000025175
Gene Namefructosamine 3 kinase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #R8270 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location121434913-121450491 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 121439311 bp
ZygosityHeterozygous
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]
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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,503,044 T3044I probably damaging Het
Apbb1ip C T 2: 22,874,992 P562S unknown Het
Arhgap44 A G 11: 65,022,034 M477T possibly damaging Het
Arhgef12 T C 9: 42,971,058 T1497A probably benign Het
Atp5h T C 11: 115,416,872 D91G probably damaging Het
Atp6v0a4 A G 6: 38,074,229 F405L probably damaging Het
Bicc1 T A 10: 70,932,108 T893S probably damaging Het
Cacna1i T A 15: 80,373,634 C1122S probably damaging Het
Capn7 A G 14: 31,358,679 E369G probably damaging Het
Cass4 T A 2: 172,427,669 L557Q probably damaging Het
Cdh5 A G 8: 104,113,040 I48V probably benign Het
Crisp3 T C 17: 40,235,922 K35R probably benign Het
Csde1 G A 3: 103,038,755 A22T possibly damaging Het
Ctse T C 1: 131,668,139 Y190H probably damaging Het
Cyp2d34 T A 15: 82,620,787 D24V possibly damaging Het
D630045J12Rik A T 6: 38,190,723 Y981* probably null Het
Dclre1a G A 19: 56,544,950 T404I possibly damaging Het
Dmc1 T C 15: 79,601,545 D23G probably damaging Het
Dnah8 C T 17: 30,840,713 T4429M probably damaging Het
Fbxl12 C A 9: 20,638,864 R165L possibly damaging Het
Fxyd5 A G 7: 31,041,429 L10P probably damaging Het
Gm4922 C T 10: 18,784,012 D321N probably benign Het
Gm7714 T C 5: 88,282,524 V93A possibly damaging Het
Gm884 T C 11: 103,543,315 I3009M unknown Het
Gtf2h3 A G 5: 124,595,987 *310W probably null Het
Hapln2 G A 3: 88,023,544 T180I possibly damaging Het
Herc1 T G 9: 66,487,950 V4189G probably damaging Het
Iqgap1 A G 7: 80,730,127 V1166A probably damaging Het
Kcnk10 T C 12: 98,435,099 N439S Het
Klhl3 A T 13: 58,113,154 M15K Het
Klk1b26 A T 7: 44,016,120 T151S probably benign Het
Krtap5-1 C A 7: 142,296,462 C176F unknown Het
Krtap5-3 T A 7: 142,201,956 C177S unknown Het
Map1a T C 2: 121,299,020 F180L probably damaging Het
Mfap5 T C 6: 122,521,930 probably null Het
Nckap1 T A 2: 80,524,664 H638L possibly damaging Het
Olfr506 T A 7: 108,612,943 I212N probably benign Het
Olfr910 T G 9: 38,539,348 M151R noncoding transcript Het
Optc C T 1: 133,905,072 V97M probably benign Het
Piezo1 A G 8: 122,501,559 Y330H Het
Ppp1r12b G T 1: 134,876,148 N424K probably benign Het
Prdm5 T A 6: 65,936,074 F580L probably damaging Het
Prr27 A C 5: 87,846,312 K348N possibly damaging Het
Prr30 A G 14: 101,198,386 Y247H possibly damaging Het
Sec24d T C 3: 123,305,886 V336A possibly damaging Het
Serac1 A T 17: 6,050,758 L457H probably damaging Het
Serpina1f A G 12: 103,693,498 I175T probably damaging Het
Sspo A T 6: 48,449,963 H242L probably benign Het
Tcaf2 A T 6: 42,630,024 M332K probably benign Het
Tnrc6a T A 7: 123,170,071 N361K possibly damaging Het
Trim43b G T 9: 89,085,405 H393N possibly damaging Het
Ush2a T C 1: 188,444,641 L1334S probably benign Het
Usp35 T C 7: 97,312,344 E625G probably benign Het
Other mutations in Fn3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02037:Fn3k APN 11 121435083 missense probably benign 0.12
IGL02379:Fn3k APN 11 121435124 missense probably benign 0.12
R2158:Fn3k UTSW 11 121448886 missense probably damaging 1.00
R5422:Fn3k UTSW 11 121450122 missense probably damaging 0.99
R6254:Fn3k UTSW 11 121435068 missense probably damaging 0.97
R7262:Fn3k UTSW 11 121448915 missense probably damaging 1.00
R8196:Fn3k UTSW 11 121450396 missense probably damaging 1.00
R8262:Fn3k UTSW 11 121448918 missense probably benign 0.42
Z1177:Fn3k UTSW 11 121440274 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 On2020-07-28