Incidental Mutation 'IGL02123:Fn3krp'
ID280722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fn3krp
Ensembl Gene ENSMUSG00000039253
Gene Namefructosamine 3 kinase related protein
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02123
Quality Score
Status
Chromosome11
Chromosomal Location121421401-121431288 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 121429444 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 205 (R205H)
Ref Sequence ENSEMBL: ENSMUSP00000038061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038096]
Predicted Effect probably benign
Transcript: ENSMUST00000038096
AA Change: R205H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000038061
Gene: ENSMUSG00000039253
AA Change: R205H

DomainStartEndE-ValueType
Pfam:Fructosamin_kin 1 309 6e-81 PFAM
Pfam:APH 22 267 1.5e-12 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 are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 T C 7: 28,629,489 T31A probably benign Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ampd3 T C 7: 110,802,559 V429A possibly damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cldn11 C T 3: 31,150,187 T13M probably benign Het
Cngb3 C A 4: 19,367,801 Q237K probably damaging Het
Col12a1 A G 9: 79,662,458 probably null Het
Copa T A 1: 172,112,128 L621H probably damaging Het
Dbn1 T C 13: 55,476,740 D332G possibly damaging Het
Drc1 T C 5: 30,347,104 S197P probably benign Het
E2f2 A G 4: 136,172,848 N23S probably benign Het
Epb41l2 T A 10: 25,460,844 L246H probably damaging Het
Fam13b G A 18: 34,445,618 probably benign Het
Fam184b A G 5: 45,639,151 M30T possibly damaging Het
Fam71d T C 12: 78,734,207 probably null Het
Fndc11 A G 2: 181,221,650 I83V probably benign Het
Gm3460 C T 14: 6,619,542 R150H probably benign Het
Hs6st1 T A 1: 36,103,871 F296I possibly damaging Het
Igsf10 T A 3: 59,318,660 I2531F probably damaging Het
Klhl40 T C 9: 121,779,923 F385L probably benign Het
Krt83 A T 15: 101,487,585 M302K possibly damaging Het
Lrrc43 A T 5: 123,494,279 I162F probably damaging Het
Map3k21 A G 8: 125,926,110 E325G probably damaging Het
Mpo A T 11: 87,794,795 N33I probably benign Het
Mpp4 A G 1: 59,161,466 probably null Het
Muc5b C T 7: 141,863,757 T3480I possibly damaging Het
Myo6 T C 9: 80,264,272 probably benign Het
Nostrin C T 2: 69,156,109 probably benign Het
Nphp1 T C 2: 127,754,049 M498V probably benign Het
Nr4a2 A T 2: 57,111,655 L199Q possibly damaging Het
Pcdhb6 A T 18: 37,335,820 N598I probably damaging Het
Pex19 T A 1: 172,134,286 M207K probably damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Plekha2 T C 8: 25,042,729 K409E probably damaging Het
Plxna2 T C 1: 194,794,383 L1169P probably damaging Het
Pmpcb A G 5: 21,743,375 probably benign Het
Ptrh1 T C 2: 32,776,814 probably benign Het
Rc3h2 T C 2: 37,398,253 E439G probably damaging Het
Ric1 C T 19: 29,594,800 A665V probably benign Het
Stx18 T A 5: 38,128,103 V219D probably damaging Het
Taf7 A T 18: 37,642,480 probably benign Het
Tbc1d8 A G 1: 39,380,236 S766P probably damaging Het
Tbc1d8 A G 1: 39,376,907 I895T possibly damaging Het
Tekt3 C A 11: 63,083,940 H362N probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tmem94 T C 11: 115,787,538 S196P possibly damaging Het
Vmn2r14 T C 5: 109,220,067 Y353C probably damaging Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vmn2r90 T G 17: 17,733,482 M636R probably benign Het
Vmn2r98 T A 17: 19,080,679 C648S probably damaging Het
Zfpm2 G A 15: 41,102,195 C560Y probably damaging Het
Other mutations in Fn3krp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Fn3krp APN 11 121421554 missense probably damaging 1.00
IGL01633:Fn3krp APN 11 121429707 nonsense probably null
IGL03189:Fn3krp APN 11 121429630 missense probably damaging 1.00
R0278:Fn3krp UTSW 11 121421580 missense probably damaging 1.00
R1927:Fn3krp UTSW 11 121424977 missense probably damaging 0.99
R3744:Fn3krp UTSW 11 121426705 critical splice donor site probably null
R4471:Fn3krp UTSW 11 121426673 missense probably benign 0.01
R4850:Fn3krp UTSW 11 121425053 missense possibly damaging 0.56
R5027:Fn3krp UTSW 11 121429448 missense probably benign 0.01
R5162:Fn3krp UTSW 11 121429584 missense probably damaging 1.00
R5444:Fn3krp UTSW 11 121421604 critical splice donor site probably null
R6230:Fn3krp UTSW 11 121425592 missense probably damaging 1.00
R7183:Fn3krp UTSW 11 121421605 critical splice donor site probably null
Posted On2015-04-16