Incidental Mutation 'IGL02730:Fgf20'
ID 305410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf20
Ensembl Gene ENSMUSG00000031603
Gene Name fibroblast growth factor 20
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02730
Quality Score
Status
Chromosome 8
Chromosomal Location 40732206-40740060 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40732828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 203 (L203F)
Ref Sequence ENSEMBL: ENSMUSP00000034014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034014] [ENSMUST00000118639]
AlphaFold Q9ESL9
Predicted Effect probably damaging
Transcript: ENSMUST00000034014
AA Change: L203F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034014
Gene: ENSMUSG00000031603
AA Change: L203F

DomainStartEndE-ValueType
low complexity region 35 53 N/A INTRINSIC
FGF 63 194 3.3e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118639
AA Change: L149F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112756
Gene: ENSMUSG00000031603
AA Change: L149F

DomainStartEndE-ValueType
FGF 6 140 2.08e-47 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit imapired coclear lateral compartment differentiation and deafness without loss of vestibular function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,304,210 (GRCm39) probably benign Het
Ankib1 A T 5: 3,752,995 (GRCm39) V651E probably damaging Het
BC051665 G A 13: 60,932,826 (GRCm39) probably benign Het
Ces1d C T 8: 93,912,644 (GRCm39) G265S probably benign Het
Dsg1c A C 18: 20,407,887 (GRCm39) D411A probably damaging Het
Exosc5 T C 7: 25,362,622 (GRCm39) I70T possibly damaging Het
Gpsm1 T A 2: 26,215,390 (GRCm39) V316E probably benign Het
Gtpbp1 T A 15: 79,603,372 (GRCm39) D620E probably benign Het
Hs6st1 A G 1: 36,142,709 (GRCm39) T215A probably damaging Het
Irgm2 T A 11: 58,110,816 (GRCm39) M169K probably benign Het
Kcns3 A G 12: 11,142,076 (GRCm39) S208P probably benign Het
Klra6 T C 6: 129,999,660 (GRCm39) T103A probably benign Het
Lrba T A 3: 86,235,506 (GRCm39) M870K probably damaging Het
Mapk1ip1l C T 14: 47,548,377 (GRCm39) T175I possibly damaging Het
Meig1 A G 2: 3,412,947 (GRCm39) Y25H probably damaging Het
Msh2 T C 17: 88,014,643 (GRCm39) F474L probably damaging Het
Nlrp4b T C 7: 10,448,685 (GRCm39) F296S probably damaging Het
Or10d1b C T 9: 39,613,534 (GRCm39) C177Y probably damaging Het
Or12d17 T A 17: 37,777,750 (GRCm39) Y218N probably damaging Het
Or14c40 T C 7: 86,313,275 (GRCm39) L135P probably damaging Het
Or2m12 T A 16: 19,105,432 (GRCm39) L20F probably benign Het
Or5al6 C T 2: 85,976,443 (GRCm39) V212M probably benign Het
Or5w15 T A 2: 87,567,985 (GRCm39) I228F probably damaging Het
Or6z3 T C 7: 6,464,123 (GRCm39) I205T possibly damaging Het
Or8s8 A G 15: 98,354,317 (GRCm39) N42S probably damaging Het
Pds5b A G 5: 150,704,217 (GRCm39) probably benign Het
Plekhg1 A G 10: 3,823,242 (GRCm39) D70G possibly damaging Het
Rubcnl C T 14: 75,287,588 (GRCm39) T624M probably damaging Het
Runx1t1 C T 4: 13,860,019 (GRCm39) H317Y probably benign Het
Sec22a T C 16: 35,134,470 (GRCm39) D282G probably damaging Het
Serpina3a T C 12: 104,085,922 (GRCm39) F126L probably damaging Het
Serpinc1 A G 1: 160,827,598 (GRCm39) D399G probably damaging Het
Sorcs2 A G 5: 36,219,896 (GRCm39) Y383H probably benign Het
Speer3 T A 5: 13,843,285 (GRCm39) M64K probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stx1b C A 7: 127,414,549 (GRCm39) R25L probably benign Het
Syt5 A G 7: 4,545,356 (GRCm39) V181A probably damaging Het
Tspoap1 G T 11: 87,672,535 (GRCm39) V1788F probably damaging Het
Vinac1 T C 2: 128,880,646 (GRCm39) T427A possibly damaging Het
Vmn1r233 A G 17: 21,214,057 (GRCm39) S298P possibly damaging Het
Xntrpc T C 7: 101,731,319 (GRCm39) S353P probably damaging Het
Other mutations in Fgf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03365:Fgf20 APN 8 40,732,932 (GRCm39) missense possibly damaging 0.95
mermaid UTSW 8 40,734,189 (GRCm39) missense probably damaging 0.98
LCD18:Fgf20 UTSW 8 40,745,359 (GRCm39) intron probably benign
R1893:Fgf20 UTSW 8 40,732,844 (GRCm39) missense possibly damaging 0.49
R4067:Fgf20 UTSW 8 40,732,896 (GRCm39) missense probably benign 0.00
R4613:Fgf20 UTSW 8 40,739,652 (GRCm39) missense probably benign
R6166:Fgf20 UTSW 8 40,732,881 (GRCm39) missense probably damaging 0.98
R6280:Fgf20 UTSW 8 40,734,153 (GRCm39) nonsense probably null
R6869:Fgf20 UTSW 8 40,734,189 (GRCm39) missense probably damaging 0.98
R7561:Fgf20 UTSW 8 40,732,975 (GRCm39) missense possibly damaging 0.92
R7739:Fgf20 UTSW 8 40,732,937 (GRCm39) missense probably damaging 1.00
R8191:Fgf20 UTSW 8 40,761,361 (GRCm39) start gained probably benign
R9144:Fgf20 UTSW 8 40,732,958 (GRCm39) missense
R9261:Fgf20 UTSW 8 40,739,951 (GRCm39) intron probably benign
Posted On 2015-04-16