Incidental Mutation 'R0520:Fggy'
ID 48448
Institutional Source Beutler Lab
Gene Symbol Fggy
Ensembl Gene ENSMUSG00000028573
Gene Name FGGY carbohydrate kinase domain containing
Synonyms 2310009E04Rik
MMRRC Submission 038713-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0520 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 95445744-95815176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95489340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 152 (L152Q)
Ref Sequence ENSEMBL: ENSMUSP00000078216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043335] [ENSMUST00000079223] [ENSMUST00000107091] [ENSMUST00000131654] [ENSMUST00000134012] [ENSMUST00000150830] [ENSMUST00000177394]
AlphaFold A2AJL3
Predicted Effect probably damaging
Transcript: ENSMUST00000043335
AA Change: L152Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043460
Gene: ENSMUSG00000028573
AA Change: L152Q

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: L152Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078216
Gene: ENSMUSG00000028573
AA Change: L152Q

DomainStartEndE-ValueType
Pfam:FGGY_N 12 268 3.3e-27 PFAM
Pfam:FGGY_C 290 498 1.1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107091
SMART Domains Protein: ENSMUSP00000102706
Gene: ENSMUSG00000028573

DomainStartEndE-ValueType
Pfam:FGGY_N 12 78 1.7e-10 PFAM
Pfam:FGGY_C 202 410 1.5e-50 PFAM
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 benign
Transcript: ENSMUST00000134012
SMART Domains Protein: ENSMUSP00000115859
Gene: ENSMUSG00000028573

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 noncoding transcript
Transcript: ENSMUST00000147783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176162
Predicted Effect probably benign
Transcript: ENSMUST00000150830
SMART Domains Protein: ENSMUSP00000115546
Gene: ENSMUSG00000028573

DomainStartEndE-ValueType
Pfam:FGGY_N 12 79 2.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177394
SMART Domains Protein: ENSMUSP00000134881
Gene: ENSMUSG00000028573

DomainStartEndE-ValueType
Pfam:FGGY_N 12 77 3.9e-13 PFAM
Meta Mutation Damage Score 0.9029 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (72/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T C 14: 103,288,952 (GRCm39) I154T possibly damaging Het
Acr G T 15: 89,457,430 (GRCm39) C226F probably damaging Het
Aff1 C T 5: 103,995,617 (GRCm39) R1070* probably null Het
Aldh9a1 C T 1: 167,188,960 (GRCm39) probably benign Het
Apaf1 A T 10: 90,915,851 (GRCm39) H12Q probably damaging Het
Asic1 A T 15: 99,593,416 (GRCm39) I291F probably damaging Het
Aspm T A 1: 139,406,558 (GRCm39) M1815K possibly damaging Het
Asxl3 A T 18: 22,656,043 (GRCm39) D1351V probably damaging Het
Atg9a C T 1: 75,163,178 (GRCm39) W299* probably null Het
B3gntl1 C A 11: 121,514,314 (GRCm39) V313F possibly damaging Het
B4galnt4 T A 7: 140,647,286 (GRCm39) C345* probably null Het
Bicc1 A T 10: 70,793,020 (GRCm39) F211L probably damaging Het
Cachd1 T G 4: 100,754,900 (GRCm39) V117G probably damaging Het
Cdc16 G A 8: 13,810,569 (GRCm39) probably null Het
Cers6 C T 2: 68,935,435 (GRCm39) Q312* probably null Het
Csta2 A G 16: 36,073,461 (GRCm39) I16V probably benign Het
Dclre1c A G 2: 3,437,512 (GRCm39) H115R probably damaging Het
Ddx20 T C 3: 105,594,692 (GRCm39) T18A probably benign Het
Dhx57 A G 17: 80,565,604 (GRCm39) V816A possibly damaging Het
Dlgap1 C T 17: 70,823,989 (GRCm39) Q325* probably null Het
Dnaja1 A T 4: 40,728,072 (GRCm39) M178L probably benign Het
Ecd A T 14: 20,378,732 (GRCm39) S454T probably benign Het
Efcab6 G A 15: 83,834,247 (GRCm39) H454Y probably benign Het
Exo1 T A 1: 175,727,031 (GRCm39) D447E probably benign Het
F5 T G 1: 164,037,156 (GRCm39) I1965S probably benign Het
Fbn2 A G 18: 58,146,821 (GRCm39) C2692R probably damaging Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Gm9871 A G 6: 101,778,540 (GRCm39) noncoding transcript Het
Gnai2 A T 9: 107,497,372 (GRCm39) D7E probably benign Het
Gon7 C T 12: 102,724,047 (GRCm39) probably benign Het
H2-K2 A T 17: 34,216,390 (GRCm39) V272E probably damaging Het
Hectd4 G T 5: 121,469,770 (GRCm39) R2555L possibly damaging Het
Hexb T C 13: 97,317,618 (GRCm39) R360G probably benign Het
Igsf9b C A 9: 27,234,546 (GRCm39) S470R probably benign Het
Inpp5d T C 1: 87,633,642 (GRCm39) probably benign Het
Inpp5k C A 11: 75,530,356 (GRCm39) Y265* probably null Het
Klhl33 T G 14: 51,129,140 (GRCm39) E436D probably damaging Het
Krt80 A G 15: 101,267,898 (GRCm39) L13P probably benign Het
Krtap19-2 C T 16: 88,670,749 (GRCm39) probably benign Het
Marchf10 T C 11: 105,280,708 (GRCm39) T526A probably benign Het
Mcrs1 A G 15: 99,146,336 (GRCm39) probably null Het
Msh2 G T 17: 88,024,972 (GRCm39) V617F possibly damaging Het
Nckap1 A C 2: 80,371,874 (GRCm39) probably benign Het
Nek4 T A 14: 30,681,263 (GRCm39) probably benign Het
Or7h8 G A 9: 20,123,791 (GRCm39) V49I probably benign Het
Or8b12b T C 9: 37,684,849 (GRCm39) V298A probably benign Het
Or8k22 G T 2: 86,163,475 (GRCm39) T75K probably damaging Het
Or9s14 T A 1: 92,536,471 (GRCm39) V304E probably damaging Het
Osgin1 A G 8: 120,169,247 (GRCm39) H48R probably damaging Het
Pam T A 1: 97,811,920 (GRCm39) T369S probably benign Het
Pclo C T 5: 14,763,844 (GRCm39) Q821* probably null Het
Plekhm1 T C 11: 103,285,770 (GRCm39) I222V probably benign Het
Ptprg T G 14: 12,199,783 (GRCm38) N65K possibly damaging Het
Pum2 T A 12: 8,771,710 (GRCm39) V351E probably damaging Het
Slc25a54 T A 3: 109,014,546 (GRCm39) probably benign Het
Smchd1 A T 17: 71,736,538 (GRCm39) D587E possibly damaging Het
Stap1 A G 5: 86,238,823 (GRCm39) M164V probably benign Het
Stat5a T C 11: 100,752,252 (GRCm39) V30A probably damaging Het
Stk36 T G 1: 74,641,365 (GRCm39) probably benign Het
Tiam1 G T 16: 89,614,839 (GRCm39) probably benign Het
Tmc5 T C 7: 118,265,799 (GRCm39) M553T probably damaging Het
Tmem14a T A 1: 21,299,636 (GRCm39) Y89N possibly damaging Het
Tpp2 A G 1: 44,029,690 (GRCm39) Y991C probably damaging Het
Ttc7 A G 17: 87,666,579 (GRCm39) K615E possibly damaging Het
Ubac2 C T 14: 122,231,754 (GRCm39) P227S probably damaging Het
Vit A C 17: 78,932,588 (GRCm39) K565T probably damaging Het
Vps13c T C 9: 67,853,133 (GRCm39) F2409L possibly damaging Het
Wdr64 A G 1: 175,553,958 (GRCm39) T173A probably damaging Het
Zfp759 T C 13: 67,285,419 (GRCm39) I60T probably benign Het
Zfp81 A G 17: 33,553,351 (GRCm39) S488P probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Other mutations in Fggy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Fggy APN 4 95,725,865 (GRCm39) missense possibly damaging 0.86
IGL02377:Fggy APN 4 95,511,714 (GRCm39) unclassified probably benign
IGL02417:Fggy APN 4 95,737,846 (GRCm39) missense probably benign 0.01
IGL02527:Fggy APN 4 95,585,306 (GRCm39) missense probably damaging 1.00
IGL02967:Fggy APN 4 95,814,986 (GRCm39) missense possibly damaging 0.74
IGL03053:Fggy APN 4 95,815,046 (GRCm39) unclassified probably benign
IGL03168:Fggy APN 4 95,815,046 (GRCm39) unclassified probably benign
IGL03370:Fggy APN 4 95,710,301 (GRCm39) missense probably damaging 1.00
R0164:Fggy UTSW 4 95,725,891 (GRCm39) missense probably damaging 0.97
R0164:Fggy UTSW 4 95,725,891 (GRCm39) missense probably damaging 0.97
R0312:Fggy UTSW 4 95,732,422 (GRCm39) missense probably damaging 1.00
R0747:Fggy UTSW 4 95,700,337 (GRCm39) splice site probably benign
R0940:Fggy UTSW 4 95,585,238 (GRCm39) missense probably benign 0.40
R1513:Fggy UTSW 4 95,790,295 (GRCm39) intron probably benign
R1746:Fggy UTSW 4 95,814,965 (GRCm39) missense probably damaging 1.00
R2998:Fggy UTSW 4 95,737,822 (GRCm39) missense probably benign 0.01
R3848:Fggy UTSW 4 95,489,361 (GRCm39) unclassified probably benign
R4913:Fggy UTSW 4 95,585,313 (GRCm39) critical splice donor site probably null
R5458:Fggy UTSW 4 95,814,980 (GRCm39) missense probably benign
R5868:Fggy UTSW 4 95,585,225 (GRCm39) missense probably damaging 0.99
R6583:Fggy UTSW 4 95,489,210 (GRCm39) missense probably benign 0.01
R6589:Fggy UTSW 4 95,485,875 (GRCm39) missense probably benign 0.00
R7332:Fggy UTSW 4 95,511,719 (GRCm39) missense probably damaging 0.98
R7359:Fggy UTSW 4 95,657,717 (GRCm39) missense probably benign 0.40
R7453:Fggy UTSW 4 95,485,927 (GRCm39) missense probably damaging 1.00
R7603:Fggy UTSW 4 95,657,743 (GRCm39) missense probably damaging 1.00
R7806:Fggy UTSW 4 95,489,203 (GRCm39) missense probably benign 0.02
R8072:Fggy UTSW 4 95,732,394 (GRCm39) missense possibly damaging 0.75
R8199:Fggy UTSW 4 95,700,381 (GRCm39) missense probably benign 0.10
R8348:Fggy UTSW 4 95,732,427 (GRCm39) missense probably benign 0.11
R8430:Fggy UTSW 4 95,815,002 (GRCm39) utr 3 prime probably benign
R8448:Fggy UTSW 4 95,732,427 (GRCm39) missense probably benign 0.11
R8503:Fggy UTSW 4 95,790,295 (GRCm39) intron probably benign
R8682:Fggy UTSW 4 95,700,358 (GRCm39) missense probably damaging 1.00
R9044:Fggy UTSW 4 95,732,334 (GRCm39) missense probably benign 0.30
R9059:Fggy UTSW 4 95,688,841 (GRCm39) nonsense probably null
X0067:Fggy UTSW 4 95,585,229 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGGAAGTACAGTGTTGCTCCC -3'
(R):5'- GGCCTGCCTGACATCAGTGTATG -3'

Sequencing Primer
(F):5'- GAGAAGATGCCATGTCTACTTGTC -3'
(R):5'- CTGCCTGACATCAGTGTATGAAAAAC -3'
Posted On 2013-06-12