Incidental Mutation 'IGL00941:Fgf21'
ID27841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf21
Ensembl Gene ENSMUSG00000030827
Gene Namefibroblast growth factor 21
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL00941
Quality Score
Status
Chromosome7
Chromosomal Location45613886-45615490 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45615173 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 45 (V45A)
Ref Sequence ENSEMBL: ENSMUSP00000033099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008605] [ENSMUST00000033099] [ENSMUST00000209379] [ENSMUST00000210150]
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 probably damaging
Transcript: ENSMUST00000033099
AA Change: V45A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033099
Gene: ENSMUSG00000030827
AA Change: V45A

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A C 17: 24,317,130 I521S probably damaging Het
Ace A T 11: 105,979,550 K265I probably benign Het
Acss3 A G 10: 107,053,326 probably null Het
Aldh3a2 A G 11: 61,262,256 Y215H probably damaging Het
Clk2 A G 3: 89,175,422 M393V probably damaging Het
Cyc1 A G 15: 76,345,165 I242V probably benign Het
Evpl G A 11: 116,227,901 L657F probably benign Het
Fbxw10 G A 11: 62,873,501 V675M probably damaging Het
Gm5134 T C 10: 76,000,421 I412T possibly damaging Het
Gnat3 T C 5: 18,003,751 probably benign Het
Hk3 C T 13: 55,014,426 probably null Het
Ifna12 A T 4: 88,603,314 probably benign Het
Ipp A G 4: 116,532,659 M471V possibly damaging Het
Kcnj1 G A 9: 32,396,498 V73I probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Mical2 T C 7: 112,321,445 probably benign Het
Mllt1 A T 17: 56,895,086 S428R probably damaging Het
Ppm1k T A 6: 57,524,755 H141L probably benign Het
Sept4 G T 11: 87,589,773 C392F probably damaging Het
Slc26a11 T C 11: 119,379,901 F550L probably benign Het
Ssb T A 2: 69,870,835 probably null Het
Stk36 T A 1: 74,623,934 M588K possibly damaging Het
Ubqln4 G A 3: 88,564,501 A415T probably benign Het
Zfp839 C A 12: 110,860,948 S424R probably damaging Het
Zkscan6 G T 11: 65,814,747 G95W probably damaging Het
Other mutations in Fgf21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Fgf21 APN 7 45615224 missense probably benign 0.23
IGL02286:Fgf21 APN 7 45615137 missense possibly damaging 0.56
IGL03074:Fgf21 APN 7 45614181 missense probably benign
R0212:Fgf21 UTSW 7 45614102 missense probably benign 0.18
R0233:Fgf21 UTSW 7 45615297 missense probably benign 0.00
R0233:Fgf21 UTSW 7 45615297 missense probably benign 0.00
R5151:Fgf21 UTSW 7 45614032 missense probably damaging 1.00
R5724:Fgf21 UTSW 7 45615305 start codon destroyed probably null 0.02
R6002:Fgf21 UTSW 7 45615227 missense probably benign
Posted On2013-04-17