Incidental Mutation 'IGL02527:Fggy'
ID297159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fggy
Ensembl Gene ENSMUSG00000028573
Gene NameFGGY carbohydrate kinase domain containing
Synonyms2310009E04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02527
Quality Score
Status
Chromosome4
Chromosomal Location95557507-95926939 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95697069 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 62 (K62E)
Ref Sequence ENSEMBL: ENSMUSP00000115859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043335] [ENSMUST00000079223] [ENSMUST00000107091] [ENSMUST00000131654] [ENSMUST00000134012] [ENSMUST00000143742]
Predicted Effect probably damaging
Transcript: ENSMUST00000043335
AA Change: K223E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043460
Gene: ENSMUSG00000028573
AA Change: K223E

DomainStartEndE-ValueType
Pfam:FGGY_N 12 268 1.7e-29 PFAM
Pfam:FGGY_C 290 373 1.9e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079223
AA Change: K223E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078216
Gene: ENSMUSG00000028573
AA Change: K223E

DomainStartEndE-ValueType
Pfam:FGGY_N 12 268 3.3e-27 PFAM
Pfam:FGGY_C 290 498 1.1e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107091
AA Change: K135E

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102706
Gene: ENSMUSG00000028573
AA Change: K135E

DomainStartEndE-ValueType
Pfam:FGGY_N 12 78 1.7e-10 PFAM
Pfam:FGGY_C 202 410 1.5e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125742
Predicted Effect probably benign
Transcript: ENSMUST00000131654
SMART Domains Protein: ENSMUSP00000116264
Gene: ENSMUSG00000028573

DomainStartEndE-ValueType
Pfam:FGGY_N 12 82 1.6e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134012
AA Change: K62E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115859
Gene: ENSMUSG00000028573
AA Change: K62E

DomainStartEndE-ValueType
SCOP:d1bu6o1 20 107 6e-8 SMART
PDB:3L0Q|B 25 110 2e-24 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141248
Predicted Effect possibly damaging
Transcript: ENSMUST00000143742
AA Change: K42E

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117386
Gene: ENSMUSG00000028573
AA Change: K42E

DomainStartEndE-ValueType
PDB:3L0Q|B 5 63 9e-12 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176840
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,661,433 V868A probably damaging Het
Adam25 T A 8: 40,753,748 I17K possibly damaging Het
Arap2 A T 5: 62,749,307 M123K probably benign Het
Asic3 A G 5: 24,416,277 M332V probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
BC017158 T A 7: 128,276,231 T317S possibly damaging Het
Cand1 A T 10: 119,206,807 M1126K probably damaging Het
Capn3 A G 2: 120,504,485 T818A probably damaging Het
Cda G A 4: 138,343,521 Q104* probably null Het
Cpeb1 T C 7: 81,359,887 D234G probably damaging Het
Cpq A G 15: 33,302,363 Y220C probably damaging Het
Diaph3 T C 14: 86,810,359 K1026R possibly damaging Het
Dpep1 T C 8: 123,198,748 F47L probably damaging Het
Dppa4 G T 16: 48,289,093 R66L possibly damaging Het
Elac1 C A 18: 73,747,233 E31* probably null Het
Ficd T A 5: 113,736,966 M32K probably benign Het
Foxd4 A G 19: 24,899,814 S341P probably benign Het
Gm4788 T C 1: 139,753,045 N245S probably damaging Het
Gnb4 G T 3: 32,589,866 T181K probably benign Het
Grin2b T A 6: 135,923,391 Y164F probably damaging Het
Hmmr A G 11: 40,708,105 L564P probably damaging Het
Hsd17b4 G A 18: 50,160,164 V257I probably benign Het
Itga10 C A 3: 96,655,624 probably benign Het
Kcnk18 T C 19: 59,235,275 V284A probably damaging Het
Klf11 T A 12: 24,655,323 S259T probably benign Het
Kmt2d C T 15: 98,841,747 probably benign Het
Manea A G 4: 26,336,619 probably null Het
Mybl1 T C 1: 9,690,148 H75R probably damaging Het
Neb G A 2: 52,263,947 T2384M probably damaging Het
Neb A G 2: 52,149,213 I6938T probably benign Het
Ntrk3 T C 7: 78,451,949 D412G probably benign Het
Olah T C 2: 3,342,942 E211G probably damaging Het
Olfr1123 T C 2: 87,418,837 L261S probably damaging Het
Paxbp1 A T 16: 91,037,273 N208K possibly damaging Het
Prrc1 T A 18: 57,389,347 M417K probably benign Het
Ptprq G A 10: 107,686,563 T543M probably benign Het
Rasal1 T C 5: 120,666,404 V447A probably damaging Het
Rbl1 T C 2: 157,194,048 E287G probably benign Het
Tec A G 5: 72,779,415 probably null Het
Tex26 A G 5: 149,456,942 D61G probably damaging Het
Tgfb1i1 G A 7: 128,252,562 probably benign Het
Tmem132c T C 5: 127,359,611 Y55H possibly damaging Het
Tmem63a T A 1: 180,952,974 probably null Het
Umod C T 7: 119,469,467 G452D probably damaging Het
Vcan G A 13: 89,690,657 T2256I possibly damaging Het
Vmn1r31 A T 6: 58,472,793 I29K probably benign Het
Vmn2r117 A G 17: 23,477,225 Y403H possibly damaging Het
Vmn2r124 A T 17: 18,066,502 probably null Het
Vmn2r65 T A 7: 84,946,516 K320M possibly damaging Het
Other mutations in Fggy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Fggy APN 4 95837628 missense possibly damaging 0.86
IGL02377:Fggy APN 4 95623477 unclassified probably benign
IGL02417:Fggy APN 4 95849609 missense probably benign 0.01
IGL02967:Fggy APN 4 95926749 missense possibly damaging 0.74
IGL03053:Fggy APN 4 95926809 unclassified probably benign
IGL03168:Fggy APN 4 95926809 unclassified probably benign
IGL03370:Fggy APN 4 95822064 missense probably damaging 1.00
R0164:Fggy UTSW 4 95837654 missense probably damaging 0.97
R0164:Fggy UTSW 4 95837654 missense probably damaging 0.97
R0312:Fggy UTSW 4 95844185 missense probably damaging 1.00
R0520:Fggy UTSW 4 95601103 missense probably damaging 1.00
R0747:Fggy UTSW 4 95812100 splice site probably benign
R0940:Fggy UTSW 4 95697001 missense probably benign 0.40
R1513:Fggy UTSW 4 95902058 intron probably benign
R1746:Fggy UTSW 4 95926728 missense probably damaging 1.00
R2998:Fggy UTSW 4 95849585 missense probably benign 0.01
R3848:Fggy UTSW 4 95601124 unclassified probably benign
R4913:Fggy UTSW 4 95697076 critical splice donor site probably null
R5458:Fggy UTSW 4 95926743 missense probably benign
R5868:Fggy UTSW 4 95696988 missense probably damaging 0.99
R6583:Fggy UTSW 4 95600973 missense probably benign 0.01
R6589:Fggy UTSW 4 95597638 missense probably benign 0.00
R7332:Fggy UTSW 4 95623482 missense probably damaging 0.98
R7359:Fggy UTSW 4 95769480 missense probably benign 0.40
R7453:Fggy UTSW 4 95597690 missense probably damaging 1.00
R7603:Fggy UTSW 4 95769506 missense probably damaging 1.00
X0067:Fggy UTSW 4 95696992 missense probably damaging 1.00
Posted On2015-04-16