Incidental Mutation 'IGL00835:Fggy'
ID12621
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 #IGL00835
Quality Score
Status
Chromosome4
Chromosomal Location95557507-95926939 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 95837628 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 335 (I335N)
Ref Sequence ENSEMBL: ENSMUSP00000102706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079223] [ENSMUST00000107091] [ENSMUST00000130541]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079223
AA Change: I423N

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000078216
Gene: ENSMUSG00000028573
AA Change: I423N

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: I335N

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102706
Gene: ENSMUSG00000028573
AA Change: I335N

DomainStartEndE-ValueType
Pfam:FGGY_N 12 78 1.7e-10 PFAM
Pfam:FGGY_C 202 410 1.5e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000130541
AA Change: I128N

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115688
Gene: ENSMUSG00000028573
AA Change: I128N

DomainStartEndE-ValueType
Pfam:FGGY_C 1 150 3.3e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147766
Predicted Effect unknown
Transcript: ENSMUST00000156223
AA Change: I64N
SMART Domains Protein: ENSMUSP00000118147
Gene: ENSMUSG00000028573
AA Change: I64N

DomainStartEndE-ValueType
Pfam:FGGY_C 6 124 8.5e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176162
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,302,733 D1023G probably damaging Het
Agbl3 A G 6: 34,799,732 D391G probably damaging Het
Aggf1 C A 13: 95,362,477 V450F probably damaging Het
Alms1 A G 6: 85,622,134 Y1314C probably damaging Het
Arfgef3 A G 10: 18,661,358 F192L probably benign Het
Arnt A G 3: 95,490,340 D541G probably damaging Het
AU040320 A G 4: 126,757,071 probably null Het
Cep290 A T 10: 100,563,380 R2255* probably null Het
Creb3l4 T A 3: 90,241,987 H138L possibly damaging Het
Crispld2 G A 8: 120,010,648 R46H probably damaging Het
Crlf3 T C 11: 80,047,675 T379A probably benign Het
Ctsb T A 14: 63,135,650 D85E probably damaging Het
Etv2 A T 7: 30,633,667 D325E probably benign Het
Fkbp1b C T 12: 4,833,726 G90S probably damaging Het
Glra3 A G 8: 55,940,977 probably benign Het
Gpatch8 C A 11: 102,478,549 A1388S probably damaging Het
Grin2b T A 6: 135,733,570 S993C probably damaging Het
Gsg1 A T 6: 135,244,092 M103K possibly damaging Het
Il12rb2 A T 6: 67,360,567 V110D probably damaging Het
Kat8 A G 7: 127,920,504 D174G probably damaging Het
Krt82 A T 15: 101,543,378 I334N probably damaging Het
Lrrfip1 C T 1: 91,115,418 T515I possibly damaging Het
Lrrtm2 T A 18: 35,214,239 L3F probably benign Het
Man1c1 T A 4: 134,564,532 Q575L probably damaging Het
Panx1 A G 9: 15,007,844 S240P probably damaging Het
Phldb2 G A 16: 45,751,456 T1191I probably damaging Het
Plb1 G A 5: 32,364,172 E1456K unknown Het
Prtn3 A G 10: 79,881,052 T84A probably benign Het
R3hdm1 T C 1: 128,235,632 probably benign Het
Sirpa G A 2: 129,609,183 C121Y probably damaging Het
Slc9a3 C A 13: 74,160,302 H475N probably benign Het
Smgc A T 15: 91,844,420 D121V probably damaging Het
Spata16 A T 3: 26,924,262 E459V probably damaging Het
Sult2a4 T A 7: 13,909,789 E284D probably benign Het
Tbc1d32 A G 10: 56,089,846 probably benign Het
Thsd7a A C 6: 12,554,934 V317G probably damaging Het
Trh T C 6: 92,242,789 E182G probably benign Het
Tsc1 A G 2: 28,672,466 D368G possibly damaging Het
Ttc39d T G 17: 80,216,526 C205G probably damaging Het
Unc79 T G 12: 103,141,890 probably benign Het
Vps13d A T 4: 145,160,652 D724E probably damaging Het
Zc3h14 T A 12: 98,747,524 probably null Het
Zfp507 G T 7: 35,776,038 H917N probably damaging Het
Other mutations in Fggy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02377:Fggy APN 4 95623477 unclassified probably benign
IGL02417:Fggy APN 4 95849609 missense probably benign 0.01
IGL02527:Fggy APN 4 95697069 missense probably damaging 1.00
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 On2012-12-06