Incidental Mutation 'R0312:Fggy'
ID 25260
Institutional Source Beutler Lab
Gene Symbol Fggy
Ensembl Gene ENSMUSG00000028573
Gene Name FGGY carbohydrate kinase domain containing
Synonyms 2310009E04Rik
MMRRC Submission 038522-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0312 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 95445744-95815176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 95732422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 112 (D112A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079223] [ENSMUST00000107091] [ENSMUST00000130541]
AlphaFold A2AJL3
Predicted Effect possibly damaging
Transcript: ENSMUST00000079223
AA Change: D471A

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078216
Gene: ENSMUSG00000028573
AA Change: D471A

DomainStartEndE-ValueType
Pfam:FGGY_N 12 268 3.3e-27 PFAM
Pfam:FGGY_C 290 498 1.1e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107091
AA Change: D383A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102706
Gene: ENSMUSG00000028573
AA Change: D383A

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: ENSMUST00000130541
SMART Domains Protein: ENSMUSP00000115688
Gene: ENSMUSG00000028573

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 probably damaging
Transcript: ENSMUST00000156223
AA Change: D112A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118147
Gene: ENSMUSG00000028573
AA Change: D112A

DomainStartEndE-ValueType
Pfam:FGGY_C 6 124 8.5e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176162
Meta Mutation Damage Score 0.9146 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 90.3%
Validation Efficiency 100% (60/60)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G T 12: 118,836,572 (GRCm39) A1113D probably damaging Het
Adcy1 G T 11: 7,099,538 (GRCm39) A673S probably benign Het
Apob T A 12: 8,059,034 (GRCm39) H2505Q probably benign Het
Arhgap12 A G 18: 6,061,982 (GRCm39) probably benign Het
Bcl9 C T 3: 97,116,727 (GRCm39) E656K probably benign Het
Bnc1 C T 7: 81,627,072 (GRCm39) R106H possibly damaging Het
Ccdc54 T C 16: 50,411,165 (GRCm39) K34E possibly damaging Het
Cfap65 G A 1: 74,943,226 (GRCm39) R1600W probably damaging Het
Csmd1 A T 8: 16,034,760 (GRCm39) N2470K probably damaging Het
Cspp1 T C 1: 10,129,054 (GRCm39) probably benign Het
Dgkz A T 2: 91,768,684 (GRCm39) I699N probably damaging Het
Dhx40 G A 11: 86,662,775 (GRCm39) T639I probably damaging Het
Dlg1 A G 16: 31,609,085 (GRCm39) T227A probably benign Het
Dnah10 G A 5: 124,873,433 (GRCm39) probably benign Het
Dnah3 T A 7: 119,644,882 (GRCm39) K1133M probably damaging Het
Dock5 G C 14: 68,033,440 (GRCm39) F976L possibly damaging Het
Evc C T 5: 37,485,885 (GRCm39) C97Y possibly damaging Het
Fbxw7 T C 3: 84,874,876 (GRCm39) probably benign Het
Fpgs A G 2: 32,574,813 (GRCm39) Y435H probably damaging Het
Fryl T A 5: 73,230,231 (GRCm39) H1642L probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gda T A 19: 21,394,369 (GRCm39) I237F probably damaging Het
Glt1d1 A G 5: 127,768,134 (GRCm39) N247S probably damaging Het
Gm7647 T C 5: 95,110,839 (GRCm39) S7P probably benign Het
Gpr31b C T 17: 13,270,498 (GRCm39) V224I probably damaging Het
Hlf G A 11: 90,278,701 (GRCm39) P121L possibly damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ism1 G T 2: 139,520,592 (GRCm39) M1I probably null Het
Kansl1l T C 1: 66,817,265 (GRCm39) N365S probably null Het
Lama1 T C 17: 68,082,846 (GRCm39) L1368P possibly damaging Het
Lima1 A G 15: 99,678,968 (GRCm39) V491A possibly damaging Het
Lrch1 G T 14: 75,185,034 (GRCm39) H23N possibly damaging Het
Lrp1b A G 2: 41,172,183 (GRCm39) V1488A probably damaging Het
Lrp8 T C 4: 107,664,052 (GRCm39) probably benign Het
Lrrc8e A G 8: 4,285,733 (GRCm39) S653G probably benign Het
Mnat1 A G 12: 73,228,558 (GRCm39) T141A possibly damaging Het
Mpeg1 C A 19: 12,439,767 (GRCm39) N408K probably damaging Het
Myo7b T C 18: 32,147,390 (GRCm39) E51G possibly damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naa35 A G 13: 59,757,395 (GRCm39) T257A probably benign Het
Obox5 T A 7: 15,491,485 (GRCm39) H8Q probably damaging Het
Or1j4 A T 2: 36,740,372 (GRCm39) I105L probably benign Het
Or51q1c T C 7: 103,653,232 (GRCm39) V250A probably damaging Het
Or5h26 A T 16: 58,988,202 (GRCm39) F101L probably benign Het
Phldb2 G T 16: 45,609,410 (GRCm39) T732N probably damaging Het
Phyhip G T 14: 70,704,410 (GRCm39) A210S possibly damaging Het
Pik3r4 A G 9: 105,563,409 (GRCm39) D1262G probably damaging Het
Pip G A 6: 41,826,798 (GRCm39) E48K possibly damaging Het
Plk4 C T 3: 40,767,982 (GRCm39) L74F probably damaging Het
Prdm14 G A 1: 13,189,031 (GRCm39) R438W probably damaging Het
Rab19 G A 6: 39,361,023 (GRCm39) R57H probably benign Het
Rtl1 G T 12: 109,556,661 (GRCm39) P1726Q probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Skint6 A T 4: 112,666,297 (GRCm39) V1176D possibly damaging Het
Slc12a1 A G 2: 125,067,948 (GRCm39) I1012V probably damaging Het
Slc1a3 C T 15: 8,665,721 (GRCm39) M509I probably benign Het
Spata18 G A 5: 73,824,224 (GRCm39) G35E probably benign Het
Spata31h1 A T 10: 82,120,203 (GRCm39) I4269N probably damaging Het
Sspo C T 6: 48,432,335 (GRCm39) P801L possibly damaging Het
Ugt2b37 C T 5: 87,398,524 (GRCm39) G304D probably damaging Het
Vmn2r25 A T 6: 123,805,539 (GRCm39) probably benign Het
Xrcc6 C A 15: 81,911,423 (GRCm39) probably null 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
R0520:Fggy UTSW 4 95,489,340 (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'- GCCAAGCACATGCCAAATATGAGAG -3'
(R):5'- GCCCATGCTAGATCTTGTCCACAG -3'

Sequencing Primer
(F):5'- CATGCCAAATATGAGAGTTGCTG -3'
(R):5'- attatgtctgtttcctttctgcc -3'
Posted On 2013-04-16