Incidental Mutation 'R6869:Fgf20'
ID 536086
Institutional Source Beutler Lab
Gene Symbol Fgf20
Ensembl Gene ENSMUSG00000031603
Gene Name fibroblast growth factor 20
Synonyms
MMRRC Submission 044966-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6869 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 40732206-40740060 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40734189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 64 (Y64C)
Ref Sequence ENSEMBL: ENSMUSP00000112756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034014] [ENSMUST00000118639]
AlphaFold Q9ESL9
Predicted Effect probably damaging
Transcript: ENSMUST00000034014
AA Change: Y118C

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034014
Gene: ENSMUSG00000031603
AA Change: Y118C

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: Y64C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112756
Gene: ENSMUSG00000031603
AA Change: Y64C

DomainStartEndE-ValueType
FGF 6 140 2.08e-47 SMART
Meta Mutation Damage Score 0.7865 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (61/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,507,042 (GRCm39) probably null Het
Ankdd1b A T 13: 96,580,799 (GRCm39) N166K possibly damaging Het
Arhgap30 G T 1: 171,236,623 (GRCm39) R999L probably damaging Het
Bnc2 T A 4: 84,211,733 (GRCm39) D212V probably damaging Het
Bpifb5 T C 2: 154,075,143 (GRCm39) I357T probably benign Het
Catsperb T C 12: 101,446,996 (GRCm39) F208S probably benign Het
Cc2d2b T A 19: 40,797,898 (GRCm39) H1105Q probably benign Het
Chchd6 T C 6: 89,572,478 (GRCm39) D17G probably damaging Het
Chd6 T C 2: 160,807,650 (GRCm39) S1855G probably benign Het
Cpe A G 8: 65,072,461 (GRCm39) V143A probably benign Het
Cyfip1 T A 7: 55,557,113 (GRCm39) V770D possibly damaging Het
Cyp1a1 A T 9: 57,610,067 (GRCm39) M494L probably benign Het
Dcstamp T C 15: 39,617,854 (GRCm39) S88P probably damaging Het
Dnah2 T A 11: 69,320,297 (GRCm39) N3924I probably damaging Het
F830045P16Rik T C 2: 129,316,481 (GRCm39) E76G probably damaging Het
Fam91a1 T A 15: 58,303,117 (GRCm39) V342E probably benign Het
Fastkd1 G A 2: 69,533,104 (GRCm39) A421V probably benign Het
Gen1 A T 12: 11,291,442 (GRCm39) N847K probably benign Het
Gm4922 A T 10: 18,660,263 (GRCm39) I153K probably damaging Het
Gm6619 T C 6: 131,463,401 (GRCm39) I6T unknown Het
H2-Ab1 T C 17: 34,486,537 (GRCm39) Y199H probably damaging Het
Hdac7 C A 15: 97,694,057 (GRCm39) L737F probably damaging Het
Hells A G 19: 38,929,079 (GRCm39) N121D probably benign Het
Itga2 G A 13: 115,012,073 (GRCm39) probably null Het
Itgb1 A G 8: 129,446,516 (GRCm39) D391G probably benign Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lbx1 T A 19: 45,223,390 (GRCm39) S93C probably damaging Het
Lmod2 T C 6: 24,604,126 (GRCm39) M367T probably benign Het
Lrrc43 G A 5: 123,642,339 (GRCm39) probably null Het
Man2a2 C T 7: 80,012,693 (GRCm39) G574D probably benign Het
Mier2 T G 10: 79,378,503 (GRCm39) K343T probably damaging Het
Msh5 A T 17: 35,260,810 (GRCm39) probably null Het
Mtus1 T C 8: 41,535,691 (GRCm39) Q675R possibly damaging Het
Ncan A T 8: 70,560,557 (GRCm39) H803Q probably benign Het
Nckap5l A G 15: 99,324,334 (GRCm39) V723A probably damaging Het
Nectin3 G A 16: 46,215,506 (GRCm39) R79C probably damaging Het
Nlrc5 A G 8: 95,248,583 (GRCm39) E1735G probably benign Het
Nrros A G 16: 31,963,249 (GRCm39) L220S probably damaging Het
Or52r1c G A 7: 102,735,075 (GRCm39) V112M possibly damaging Het
Or5aq1b T A 2: 86,902,017 (GRCm39) I154F probably benign Het
Oxa1l C T 14: 54,604,195 (GRCm39) P152S probably damaging Het
Pdcd6ip A G 9: 113,484,174 (GRCm39) Y818H unknown Het
Pik3cb A T 9: 98,942,312 (GRCm39) S682T probably benign Het
Ppp1r3a A C 6: 14,754,825 (GRCm39) S141A probably benign Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Ptprk T C 10: 28,349,055 (GRCm39) probably null Het
Ranbp17 T C 11: 33,463,074 (GRCm39) probably benign Het
Rcbtb1 T C 14: 59,455,051 (GRCm39) V95A probably benign Het
Retreg3 G A 11: 101,010,644 (GRCm39) probably benign Het
Rhobtb1 T C 10: 69,106,056 (GRCm39) L207P probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Sh3bgr A G 16: 96,007,860 (GRCm39) Y75C probably damaging Het
Strip1 T C 3: 107,520,761 (GRCm39) D763G probably damaging Het
Stxbp5l A T 16: 37,024,810 (GRCm39) V596E possibly damaging Het
Tas2r138 A G 6: 40,589,355 (GRCm39) I297T probably damaging Het
Topors A C 4: 40,261,201 (GRCm39) N694K unknown Het
Tymp T C 15: 89,260,894 (GRCm39) R20G probably benign Het
Ubr4 A G 4: 139,194,538 (GRCm39) T1144A possibly damaging Het
Unc79 A T 12: 103,079,331 (GRCm39) Q1636L probably benign Het
Vmn1r78 A G 7: 11,886,676 (GRCm39) M96V probably benign Het
Wfdc8 C T 2: 164,441,012 (GRCm39) D244N possibly damaging Het
Zbtb49 G T 5: 38,371,694 (GRCm39) N62K probably damaging Het
Zfp579 G T 7: 4,997,460 (GRCm39) D150E probably benign Het
Other mutations in Fgf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02730:Fgf20 APN 8 40,732,828 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- CCAGGTGCAATTGTAGCAATATTGG -3'
(R):5'- CCTGTTGTGATGATAGCGTCC -3'

Sequencing Primer
(F):5'- TCTGTTATGTCAGCTACATG -3'
(R):5'- TGTGATGATAGCGTCCATTTATTTG -3'
Posted On 2018-10-18