Incidental Mutation 'R8199:Fggy'
ID 635580
Institutional Source Beutler Lab
Gene Symbol Fggy
Ensembl Gene ENSMUSG00000028573
Gene Name FGGY carbohydrate kinase domain containing
Synonyms 2310009E04Rik
MMRRC Submission 067622-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8199 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 95445744-95815176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95700381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 351 (E351K)
Ref Sequence ENSEMBL: ENSMUSP00000043460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043335] [ENSMUST00000079223] [ENSMUST00000107091] [ENSMUST00000130541] [ENSMUST00000131654]
AlphaFold A2AJL3
Predicted Effect probably benign
Transcript: ENSMUST00000043335
AA Change: E351K

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000043460
Gene: ENSMUSG00000028573
AA Change: E351K

DomainStartEndE-ValueType
Pfam:FGGY_N 12 268 1.7e-29 PFAM
Pfam:FGGY_C 290 373 1.9e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079223
AA Change: E351K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000078216
Gene: ENSMUSG00000028573
AA Change: E351K

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
AA Change: E263K

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000102706
Gene: ENSMUSG00000028573
AA Change: E263K

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
AA Change: E56K

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000115688
Gene: ENSMUSG00000028573
AA Change: E56K

DomainStartEndE-ValueType
Pfam:FGGY_C 1 150 3.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131654
SMART Domains Protein: ENSMUSP00000116264
Gene: ENSMUSG00000028573

DomainStartEndE-ValueType
Pfam:FGGY_N 12 82 1.6e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
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
2610021A01Rik T C 7: 41,275,304 (GRCm39) Y336H probably damaging Het
4930563I02Rik A G 14: 60,333,388 (GRCm39) I42M noncoding transcript Het
Acad9 T C 3: 36,139,572 (GRCm39) S391P probably damaging Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
Cacna1c T C 6: 118,651,545 (GRCm39) T972A probably benign Het
Col25a1 G A 3: 130,345,628 (GRCm39) G406E probably damaging Het
Coro2b T G 9: 62,336,302 (GRCm39) I267L probably benign Het
Cst12 A G 2: 148,631,459 (GRCm39) N60S probably benign Het
Dnah8 A T 17: 31,090,393 (GRCm39) I4632F probably benign Het
Eif3d C T 15: 77,844,292 (GRCm39) C404Y possibly damaging Het
Elapor2 C T 5: 9,470,657 (GRCm39) T260M probably damaging Het
Fam43a A T 16: 30,419,586 (GRCm39) K57* probably null Het
Fbrs T C 7: 127,086,956 (GRCm39) probably null Het
Fcnb C T 2: 27,968,330 (GRCm39) S209N possibly damaging Het
Gabra6 G A 11: 42,207,280 (GRCm39) S268L probably damaging Het
Gatm A G 2: 122,432,994 (GRCm39) Y223H probably damaging Het
Gli3 T A 13: 15,900,576 (GRCm39) M1321K probably benign Het
Hira G A 16: 18,766,194 (GRCm39) A669T probably benign Het
Hoxa5 T C 6: 52,181,240 (GRCm39) S31G probably benign Het
Kdm2a T A 19: 4,439,054 (GRCm39) Q25L unknown Het
Loxhd1 C A 18: 77,469,334 (GRCm39) N1000K possibly damaging Het
Mpdu1 C T 11: 69,548,069 (GRCm39) W235* probably null Het
Msantd2 G C 9: 37,400,789 (GRCm39) G57A probably benign Het
Nat1 A G 8: 67,943,650 (GRCm39) R9G probably damaging Het
Nbl1 G A 4: 138,810,880 (GRCm39) P105S probably damaging Het
Or2j3 T C 17: 38,615,444 (GRCm39) R303G probably benign Het
Or52e4 A C 7: 104,705,852 (GRCm39) Q133P probably damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pdzrn3 T C 6: 101,128,918 (GRCm39) S583G probably damaging Het
Prpf4 A G 4: 62,340,866 (GRCm39) D427G probably damaging Het
Ptpn21 T A 12: 98,644,841 (GRCm39) I1167F possibly damaging Het
Rasgrp1 T A 2: 117,124,293 (GRCm39) H303L probably damaging Het
Ros1 T A 10: 51,977,813 (GRCm39) K1499* probably null Het
Skida1 C A 2: 18,052,959 (GRCm39) L64F probably damaging Het
St3gal5 T C 6: 72,119,175 (GRCm39) Y123H probably benign Het
Syk T C 13: 52,778,768 (GRCm39) S285P probably benign Het
Syt4 T C 18: 31,577,268 (GRCm39) T29A probably benign Het
Trav7-3 A G 14: 53,681,099 (GRCm39) D47G possibly damaging Het
Trpm7 A G 2: 126,691,918 (GRCm39) F146L probably damaging Het
Utp20 A T 10: 88,634,337 (GRCm39) D786E probably benign Het
Uts2 G A 4: 151,086,115 (GRCm39) C117Y possibly damaging Het
Zfp553 T C 7: 126,835,468 (GRCm39) L341P probably damaging Het
Zfp994 T A 17: 22,419,204 (GRCm39) K582* 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
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
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
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'- CAACGCTCCTGCTCTAAAATTTG -3'
(R):5'- TTGCTCATCCATGCAATCTGTG -3'

Sequencing Primer
(F):5'- ACGCTCCTGCTCTAAAATTTGTCTTG -3'
(R):5'- ATGCCACTCATTCATCCAC -3'
Posted On 2020-07-13