Incidental Mutation 'R7332:Fggy'
ID 569283
Institutional Source Beutler Lab
Gene Symbol Fggy
Ensembl Gene ENSMUSG00000028573
Gene Name FGGY carbohydrate kinase domain containing
Synonyms 2310009E04Rik
MMRRC Submission 045425-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7332 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 95445744-95815176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95511719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 157 (N157I)
Ref Sequence ENSEMBL: ENSMUSP00000043460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043335] [ENSMUST00000079223] [ENSMUST00000107091] [ENSMUST00000131654] [ENSMUST00000134012] [ENSMUST00000143742]
AlphaFold A2AJL3
Predicted Effect probably damaging
Transcript: ENSMUST00000043335
AA Change: N157I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043460
Gene: ENSMUSG00000028573
AA Change: N157I

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: N157I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078216
Gene: ENSMUSG00000028573
AA Change: N157I

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: N69I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102706
Gene: ENSMUSG00000028573
AA Change: N69I

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 probably benign
Transcript: ENSMUST00000143742
SMART Domains Protein: ENSMUSP00000117386
Gene: ENSMUSG00000028573

DomainStartEndE-ValueType
PDB:3L0Q|B 5 63 9e-12 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 A G 19: 56,906,553 (GRCm39) S449P probably damaging Het
Atp6v0c A C 17: 24,388,198 (GRCm39) S21A probably benign Het
Cacna1e T C 1: 154,601,547 (GRCm39) Y40C possibly damaging Het
Cdadc1 A G 14: 59,813,213 (GRCm39) I398T possibly damaging Het
Cfap44 T A 16: 44,250,191 (GRCm39) D756E probably damaging Het
Clcnkb A T 4: 141,141,243 (GRCm39) L104Q probably null Het
Clk1 G A 1: 58,451,853 (GRCm39) H421Y probably benign Het
Cmpk2 A T 12: 26,528,061 (GRCm39) D426V probably damaging Het
Cmya5 A G 13: 93,229,061 (GRCm39) L2009S possibly damaging Het
Col5a2 C G 1: 45,419,325 (GRCm39) D1252H probably damaging Het
Coro1b A G 19: 4,199,356 (GRCm39) K5R probably benign Het
Csmd2 A G 4: 128,313,360 (GRCm39) T1346A Het
Csrp1 G T 1: 135,667,149 (GRCm39) W4L probably benign Het
Cyp3a25 A G 5: 145,929,817 (GRCm39) I184T probably damaging Het
Egfl7 C A 2: 26,480,725 (GRCm39) R128S probably benign Het
Gldc A T 19: 30,093,926 (GRCm39) L697Q probably damaging Het
Gm4952 T A 19: 12,604,373 (GRCm39) Y262N probably damaging Het
Gsap T A 5: 21,495,119 (GRCm39) M821K probably benign Het
Hps1 T C 19: 42,766,351 (GRCm39) probably null Het
Hsbp1l1 T C 18: 80,280,038 (GRCm39) probably benign Het
Igfbp7 G A 5: 77,499,803 (GRCm39) T220I probably damaging Het
Ints3 T C 3: 90,322,819 (GRCm39) Q137R probably damaging Het
Kcna6 A G 6: 126,716,292 (GRCm39) F199S possibly damaging Het
Kirrel1 T C 3: 86,995,705 (GRCm39) I410V probably benign Het
Llgl2 T C 11: 115,739,125 (GRCm39) V332A probably damaging Het
Lrrc27 A G 7: 138,822,661 (GRCm39) I517M probably damaging Het
Mas1 T C 17: 13,061,106 (GRCm39) T106A probably benign Het
Mast4 T A 13: 102,887,932 (GRCm39) Y1159F possibly damaging Het
Mmp2 A G 8: 93,576,780 (GRCm39) D601G probably damaging Het
Mycbp2 T A 14: 103,434,793 (GRCm39) I2217F probably damaging Het
Mycbp2 A G 14: 103,393,889 (GRCm39) S2891P probably damaging Het
Naip6 A G 13: 100,437,209 (GRCm39) V438A possibly damaging Het
Or4g17 A G 2: 111,209,738 (GRCm39) H131R not run Het
Pdf T C 8: 107,775,173 (GRCm39) R20G probably benign Het
Pfdn2 T C 1: 171,184,162 (GRCm39) L47P probably damaging Het
Pik3c2g C A 6: 139,841,981 (GRCm39) N795K Het
Ppip5k1 A T 2: 121,142,450 (GRCm39) V1333D probably damaging Het
Pramel51 T C 12: 88,143,187 (GRCm39) T339A possibly damaging Het
Prss44 A T 9: 110,644,530 (GRCm39) I213F probably damaging Het
Rbm47 A G 5: 66,183,557 (GRCm39) Y349H probably damaging Het
Rcl1 A T 19: 29,108,096 (GRCm39) T253S probably benign Het
Rdh1 A G 10: 127,595,754 (GRCm39) probably benign Het
Scn7a C T 2: 66,522,898 (GRCm39) W935* probably null Het
Sec24b T C 3: 129,835,042 (GRCm39) N52S probably benign Het
Serpinb5 A T 1: 106,800,091 (GRCm39) I94L probably benign Het
Setx T C 2: 29,036,638 (GRCm39) V1041A probably benign Het
Slco3a1 G A 7: 73,968,232 (GRCm39) A496V possibly damaging Het
Spag5 T A 11: 78,204,205 (GRCm39) L486* probably null Het
Spink5 T C 18: 44,115,317 (GRCm39) I183T probably damaging Het
Srd5a1 T C 13: 69,759,173 (GRCm39) Y65C probably benign Het
Ssh2 T A 11: 77,344,349 (GRCm39) I778N possibly damaging Het
Sstr1 C T 12: 58,260,172 (GRCm39) S265L probably damaging Het
Syne2 T A 12: 76,014,529 (GRCm39) probably null Het
Tctn1 A T 5: 122,399,547 (GRCm39) D92E probably damaging Het
Tiam2 A G 17: 3,503,644 (GRCm39) I940M probably damaging Het
Tmeff2 T C 1: 51,018,599 (GRCm39) W194R unknown Het
Tomm20 T C 8: 127,663,903 (GRCm39) T94A probably benign Het
Ucn2 A G 9: 108,815,532 (GRCm39) N98S probably benign Het
V1rd19 A T 7: 23,702,743 (GRCm39) I70L probably benign Het
Vmn1r18 A G 6: 57,367,503 (GRCm39) L17P probably benign Het
Vmn2r61 A G 7: 41,909,534 (GRCm39) T20A probably benign Het
Wdr59 G A 8: 112,220,986 (GRCm39) T182I Het
Zfp40 A T 17: 23,395,155 (GRCm39) C477* probably null Het
Zfp68 A G 5: 138,604,830 (GRCm39) S498P possibly damaging Het
Zfp729b T C 13: 67,757,755 (GRCm39) probably null Het
Zfp846 T G 9: 20,505,521 (GRCm39) N460K probably benign Het
Zim1 T C 7: 6,680,352 (GRCm39) Y437C probably damaging 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
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
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'- CTAGCCAGATTGCAAAGGGGAC -3'
(R):5'- TGCAAAATCACATGCAGATGG -3'

Sequencing Primer
(F):5'- GGAAAATTATGGTCATTTTTGGAAGG -3'
(R):5'- TGCAGATGGAAAAACATTATGTCCAG -3'
Posted On 2019-09-13