Incidental Mutation 'IGL02286:Fgf21'
ID 289991
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf21
Ensembl Gene ENSMUSG00000030827
Gene Name fibroblast growth factor 21
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL02286
Quality Score
Status
Chromosome 7
Chromosomal Location 45263314-45264914 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45264561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 57 (D57G)
Ref Sequence ENSEMBL: ENSMUSP00000033099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008605] [ENSMUST00000033099] [ENSMUST00000209379] [ENSMUST00000210150]
AlphaFold Q9JJN1
Predicted Effect probably benign
Transcript: ENSMUST00000008605
SMART Domains Protein: ENSMUSP00000008605
Gene: ENSMUSG00000008461

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:Glyco_transf_11 39 355 3.1e-126 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000033099
AA Change: D57G

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033099
Gene: ENSMUSG00000030827
AA Change: D57G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
FGF 44 169 3.95e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209379
Predicted Effect probably benign
Transcript: ENSMUST00000210150
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Theis gene encodes a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. This protein is a secreted endocrine factor that functions as a major metabolic regulator. The encoded protein stimulates the uptake of glucose in adipose tissue. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased circulating glucose levels, oxygen consumption, and gluconeogenesis in fasted mice and increased circulating ketone levels in fed mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dab1 A G 4: 104,537,267 (GRCm39) T187A probably damaging Het
Eno2 C T 6: 124,743,543 (GRCm39) R132H probably damaging Het
Fgb T G 3: 82,950,633 (GRCm39) M374L probably benign Het
Gcgr A G 11: 120,428,757 (GRCm39) T354A probably damaging Het
Gm12790 T C 4: 101,824,918 (GRCm39) T117A probably benign Het
Myo18a C T 11: 77,668,811 (GRCm39) Q224* probably null Het
N4bp2 A G 5: 65,960,895 (GRCm39) Y522C probably damaging Het
Nt5dc3 G A 10: 86,656,644 (GRCm39) probably benign Het
Or12e13 G A 2: 87,663,592 (GRCm39) A70T probably damaging Het
Ppp1r3b C T 8: 35,851,515 (GRCm39) A118V probably benign Het
Slc37a2 C T 9: 37,146,455 (GRCm39) A351T probably damaging Het
Tlr11 T C 14: 50,598,328 (GRCm39) F105L possibly damaging Het
Vwa8 G A 14: 79,184,713 (GRCm39) probably null Het
Xrra1 A T 7: 99,563,434 (GRCm39) I474F possibly damaging Het
Zfp790 A G 7: 29,529,160 (GRCm39) K615R possibly damaging Het
Other mutations in Fgf21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Fgf21 APN 7 45,264,597 (GRCm39) missense probably damaging 1.00
IGL02104:Fgf21 APN 7 45,264,648 (GRCm39) missense probably benign 0.23
IGL03074:Fgf21 APN 7 45,263,605 (GRCm39) missense probably benign
R0212:Fgf21 UTSW 7 45,263,526 (GRCm39) missense probably benign 0.18
R0233:Fgf21 UTSW 7 45,264,721 (GRCm39) missense probably benign 0.00
R0233:Fgf21 UTSW 7 45,264,721 (GRCm39) missense probably benign 0.00
R5151:Fgf21 UTSW 7 45,263,456 (GRCm39) missense probably damaging 1.00
R5724:Fgf21 UTSW 7 45,264,729 (GRCm39) start codon destroyed probably null 0.02
R6002:Fgf21 UTSW 7 45,264,651 (GRCm39) missense probably benign
R9331:Fgf21 UTSW 7 45,263,614 (GRCm39) missense probably benign 0.01
R9570:Fgf21 UTSW 7 45,264,594 (GRCm39) missense probably damaging 1.00
R9614:Fgf21 UTSW 7 45,264,703 (GRCm39) missense probably benign
Posted On 2015-04-16