Incidental Mutation 'IGL01633:Fn3krp'
ID93629
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: 0.091) question?
Stock #IGL01633
Quality Score
Status
Chromosome11
Chromosomal Location121421401-121431288 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 121429707 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Stop codon at position 293 (G293*)
Ref Sequence ENSEMBL: ENSMUSP00000038061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038096]
Predicted Effect probably null
Transcript: ENSMUST00000038096
AA Change: G293*
SMART Domains Protein: ENSMUSP00000038061
Gene: ENSMUSG00000039253
AA Change: G293*

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T A 2: 25,444,394 S1868T possibly damaging Het
Abca3 G A 17: 24,397,353 W923* probably null Het
Abca8b A G 11: 109,936,754 M1476T probably damaging Het
Abi3bp T C 16: 56,677,800 F729S probably damaging Het
Acacb T C 5: 114,218,858 probably benign Het
Aldh3a2 A G 11: 61,248,905 L467P probably benign Het
Appl1 T C 14: 26,962,838 T85A probably damaging Het
Aspm T A 1: 139,480,836 I2487N possibly damaging Het
Bcl2a1c G A 9: 114,330,222 V23I probably benign Het
C2cd2 T A 16: 97,875,123 probably benign Het
Carmil3 A T 14: 55,494,227 H170L possibly damaging Het
Ccdc141 C T 2: 77,089,249 V305I probably benign Het
Ccdc174 G A 6: 91,880,362 probably null Het
Cep126 T G 9: 8,103,319 Q230P possibly damaging Het
Chrm1 T C 19: 8,678,495 I188T probably benign Het
Depdc5 T C 5: 32,924,200 S569P probably damaging Het
Drc1 G A 5: 30,345,663 E177K probably damaging Het
Duox1 A G 2: 122,333,798 E913G probably benign Het
Fam35a G T 14: 34,249,179 T31K probably damaging Het
Fbxw9 T C 8: 85,064,426 S241P probably damaging Het
Fez2 C A 17: 78,404,718 probably benign Het
Fga G T 3: 83,030,299 R161L possibly damaging Het
Gfra1 C T 19: 58,267,047 E318K probably benign Het
Gli3 C T 13: 15,648,634 P314S probably damaging Het
Gm5114 A T 7: 39,408,066 S710T probably benign Het
Gpr141 T C 13: 19,752,599 D2G probably benign Het
Inppl1 G A 7: 101,833,834 Q63* probably null Het
Lrrc73 T A 17: 46,255,731 V169E possibly damaging Het
Lsm11 C T 11: 45,933,788 R304Q probably benign Het
Macf1 T C 4: 123,502,171 D788G probably damaging Het
Nbas T A 12: 13,483,897 D1844E probably damaging Het
Nt5c A G 11: 115,491,335 F73L probably damaging Het
Osmr A T 15: 6,824,604 I541N probably damaging Het
Phrf1 A G 7: 141,260,500 I1203V probably benign Het
Pram1 C A 17: 33,642,135 P510Q possibly damaging Het
Prepl A G 17: 85,072,016 Y415H probably benign Het
Prss27 A T 17: 24,045,676 H271L probably damaging Het
Ptpn18 A G 1: 34,471,908 S287G probably benign Het
Ptprq T C 10: 107,699,723 probably benign Het
Sars2 A G 7: 28,747,549 K218E probably benign Het
Senp6 G T 9: 80,092,394 S31I probably damaging Het
Skint6 C A 4: 113,238,049 V138F probably damaging Het
Slc4a8 C A 15: 100,787,247 H168N probably damaging Het
Tbx15 T G 3: 99,313,042 I150S probably damaging Het
Tbxas1 A G 6: 38,982,191 N103D probably benign Het
Tmc5 A G 7: 118,623,586 N170D probably damaging Het
Tmem108 A T 9: 103,484,751 N545K probably benign Het
Trub1 A G 19: 57,453,184 K80E possibly damaging Het
Tulp3 A T 6: 128,325,960 Y299N probably damaging Het
Other mutations in Fn3krp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Fn3krp APN 11 121421554 missense probably damaging 1.00
IGL02123:Fn3krp APN 11 121429444 missense probably benign 0.00
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 On2013-12-09