Incidental Mutation 'R5724:Fgf21'
ID 452380
Institutional Source Beutler Lab
Gene Symbol Fgf21
Ensembl Gene ENSMUSG00000030827
Gene Name fibroblast growth factor 21
Synonyms
MMRRC Submission 043342-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R5724 (G1)
Quality Score 221
Status Validated
Chromosome 7
Chromosomal Location 45263314-45264914 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 45264729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
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 probably null
Transcript: ENSMUST00000033099
AA Change: M1K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000033099
Gene: ENSMUSG00000030827
AA Change: M1K

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
Meta Mutation Damage Score 0.9407 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 100% (62/62)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830408C21Rik A T 13: 107,168,905 (GRCm39) noncoding transcript Het
Adam5 T A 8: 25,294,511 (GRCm39) K363* probably null Het
Adamts12 T C 15: 11,286,836 (GRCm39) Y814H probably benign Het
Adar G T 3: 89,642,476 (GRCm39) G119V probably benign Het
Adprs G T 4: 126,211,869 (GRCm39) Q148K probably damaging Het
Atr G T 9: 95,748,641 (GRCm39) L395F probably damaging Het
Bahcc1 A G 11: 120,176,192 (GRCm39) I1946V possibly damaging Het
Bend4 T A 5: 67,575,284 (GRCm39) D199V probably damaging Het
Bpifb1 C A 2: 154,046,712 (GRCm39) H77Q probably benign Het
Clca3a1 T C 3: 144,714,833 (GRCm39) T595A probably benign Het
Crebbp A T 16: 3,905,499 (GRCm39) probably benign Het
Cxcl16 T C 11: 70,349,990 (GRCm39) D12G probably damaging Het
Dnah10 T C 5: 124,819,090 (GRCm39) W459R probably benign Het
Dock8 T C 19: 25,099,785 (GRCm39) L636P probably damaging Het
Eif2ak3 A G 6: 70,853,824 (GRCm39) T197A probably benign Het
Fbxo40 T A 16: 36,790,692 (GRCm39) R139S probably benign Het
Fer C A 17: 64,231,152 (GRCm39) T301K probably damaging Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Gm38706 A T 6: 130,459,963 (GRCm39) noncoding transcript Het
H2-Q6 A C 17: 35,644,628 (GRCm39) Y139S probably damaging Het
Ift70a2 T C 2: 75,808,074 (GRCm39) D146G probably benign Het
Igkv4-53 A T 6: 69,625,991 (GRCm39) Y59N probably damaging Het
Jrkl T C 9: 13,244,891 (GRCm39) M257V possibly damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Klhl26 T A 8: 70,904,404 (GRCm39) Y468F probably damaging Het
Lamb2 T A 9: 108,357,950 (GRCm39) probably null Het
Lcp1 A G 14: 75,464,422 (GRCm39) T548A probably benign Het
Lct T A 1: 128,228,073 (GRCm39) Q1140L probably benign Het
Lrp2 T G 2: 69,281,726 (GRCm39) N3882H probably damaging Het
Magi1 A G 6: 93,657,852 (GRCm39) I1126T probably benign Het
Magi1 A G 6: 93,722,682 (GRCm39) S399P probably damaging Het
Med16 A G 10: 79,731,243 (GRCm39) C825R probably damaging Het
Mtx3 C T 13: 92,984,095 (GRCm39) P124L probably damaging Het
Nabp2 C T 10: 128,245,555 (GRCm39) probably benign Het
Or5b113 T A 19: 13,342,515 (GRCm39) H174Q possibly damaging Het
Pak4 A T 7: 28,264,005 (GRCm39) S244T possibly damaging Het
Pccb C T 9: 100,869,900 (GRCm39) V307I probably benign Het
Plekhh2 A G 17: 84,874,233 (GRCm39) D506G probably benign Het
Plk4 T C 3: 40,755,481 (GRCm39) V26A probably damaging Het
Ppp2r3c A T 12: 55,344,617 (GRCm39) M117K probably benign Het
Pramel21 A G 4: 143,344,026 (GRCm39) D442G probably benign Het
Pspc1 C T 14: 57,015,529 (GRCm39) E30K probably benign Het
Reps1 A G 10: 17,990,231 (GRCm39) S448G possibly damaging Het
Rnf34 C T 5: 123,004,952 (GRCm39) Q241* probably null Het
Sgta A T 10: 80,883,522 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Siglech A G 7: 55,418,293 (GRCm39) N87S probably damaging Het
Sptbn1 A G 11: 30,094,113 (GRCm39) I392T possibly damaging Het
St18 T A 1: 6,841,174 (GRCm39) M21K probably benign Het
Sugp1 C T 8: 70,522,799 (GRCm39) R500C probably damaging Het
Tasp1 T C 2: 139,899,339 (GRCm39) K5E probably damaging Het
Tbx3 G A 5: 119,813,668 (GRCm39) V235I possibly damaging Het
Toporsl A T 4: 52,611,346 (GRCm39) N413I probably damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Zfp60 A G 7: 27,447,758 (GRCm39) Y142C probably benign 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
IGL02286:Fgf21 APN 7 45,264,561 (GRCm39) missense possibly damaging 0.56
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
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
Predicted Primers PCR Primer
(F):5'- TCACTTTCTGGACTGCGGTG -3'
(R):5'- CTTCTCAGCTGGGGATTCAACAC -3'

Sequencing Primer
(F):5'- ATCTCCAGGTGGGCTTCAG -3'
(R):5'- CAGGAGAAACAGCCATTCACTTTG -3'
Posted On 2017-01-03