Incidental Mutation 'IGL02730:Fgf20'
ID305410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf20
Ensembl Gene ENSMUSG00000031603
Gene Namefibroblast growth factor 20
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02730
Quality Score
Status
Chromosome8
Chromosomal Location40279166-40308331 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 40279787 bp
ZygosityHeterozygous
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]
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: 114,166,149 probably benign Het
Ankib1 A T 5: 3,702,995 V651E probably damaging Het
BC051665 G A 13: 60,785,012 probably benign Het
Ces1d C T 8: 93,186,016 G265S probably benign Het
Dsg1c A C 18: 20,274,830 D411A probably damaging Het
Exosc5 T C 7: 25,663,197 I70T possibly damaging Het
Gm14025 T C 2: 129,038,726 T427A possibly damaging Het
Gpsm1 T A 2: 26,325,378 V316E probably benign Het
Gtpbp1 T A 15: 79,719,171 D620E probably benign Het
Hs6st1 A G 1: 36,103,628 T215A probably damaging Het
Irgm2 T A 11: 58,219,990 M169K probably benign Het
Kcns3 A G 12: 11,092,075 S208P probably benign Het
Klra6 T C 6: 130,022,697 T103A probably benign Het
Lrba T A 3: 86,328,199 M870K probably damaging Het
Mapk1ip1l C T 14: 47,310,920 T175I possibly damaging Het
Meig1 A G 2: 3,411,910 Y25H probably damaging Het
Msh2 T C 17: 87,707,215 F474L probably damaging Het
Nlrp4b T C 7: 10,714,758 F296S probably damaging Het
Olfr1040 C T 2: 86,146,099 V212M probably benign Het
Olfr109 T A 17: 37,466,859 Y218N probably damaging Het
Olfr1138 T A 2: 87,737,641 I228F probably damaging Het
Olfr1336 T C 7: 6,461,124 I205T possibly damaging Het
Olfr149 C T 9: 39,702,238 C177Y probably damaging Het
Olfr164 T A 16: 19,286,682 L20F probably benign Het
Olfr281 A G 15: 98,456,436 N42S probably damaging Het
Olfr293 T C 7: 86,664,067 L135P probably damaging Het
Pds5b A G 5: 150,780,752 probably benign Het
Plekhg1 A G 10: 3,873,242 D70G possibly damaging Het
Rubcnl C T 14: 75,050,148 T624M probably damaging Het
Runx1t1 C T 4: 13,860,019 H317Y probably benign Het
Sec22a T C 16: 35,314,100 D282G probably damaging Het
Serpina3a T C 12: 104,119,663 F126L probably damaging Het
Serpinc1 A G 1: 161,000,028 D399G probably damaging Het
Sorcs2 A G 5: 36,062,552 Y383H probably benign Het
Speer3 T A 5: 13,793,271 M64K probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stx1b C A 7: 127,815,377 R25L probably benign Het
Syt5 A G 7: 4,542,357 V181A probably damaging Het
Tspoap1 G T 11: 87,781,709 V1788F probably damaging Het
Vmn1r233 A G 17: 20,993,795 S298P possibly damaging Het
Xntrpc T C 7: 102,082,112 S353P probably damaging Het
Other mutations in Fgf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03365:Fgf20 APN 8 40279891 missense possibly damaging 0.95
mermaid UTSW 8 40281148 missense probably damaging 0.98
LCD18:Fgf20 UTSW 8 40292318 intron probably benign
R1893:Fgf20 UTSW 8 40279803 missense possibly damaging 0.49
R4067:Fgf20 UTSW 8 40279855 missense probably benign 0.00
R4613:Fgf20 UTSW 8 40286611 missense probably benign
R6166:Fgf20 UTSW 8 40279840 missense probably damaging 0.98
R6280:Fgf20 UTSW 8 40281112 nonsense probably null
R6869:Fgf20 UTSW 8 40281148 missense probably damaging 0.98
R7561:Fgf20 UTSW 8 40279934 missense possibly damaging 0.92
R7739:Fgf20 UTSW 8 40279896 missense probably damaging 1.00
R8191:Fgf20 UTSW 8 40308320 start gained probably benign
Posted On2015-04-16