Incidental Mutation 'R5823:Fgf9'
ID 501600
Institutional Source Beutler Lab
Gene Symbol Fgf9
Ensembl Gene ENSMUSG00000021974
Gene Name fibroblast growth factor 9
Synonyms Eks, glia activating factor
MMRRC Submission 043215-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5823 (G1)
Quality Score 208
Status Not validated
Chromosome 14
Chromosomal Location 58308004-58350177 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 58320759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 10 (S10A)
Ref Sequence ENSEMBL: ENSMUSP00000131358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022545] [ENSMUST00000074654] [ENSMUST00000165526] [ENSMUST00000166770]
AlphaFold P54130
Predicted Effect probably damaging
Transcript: ENSMUST00000022545
AA Change: S127A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022545
Gene: ENSMUSG00000021974
AA Change: S127A

DomainStartEndE-ValueType
low complexity region 22 35 N/A INTRINSIC
FGF 60 191 2.63e-76 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000074654
AA Change: S10A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088143
Gene: ENSMUSG00000021974
AA Change: S10A

DomainStartEndE-ValueType
FGF 1 74 1.24e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165526
AA Change: S10A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131358
Gene: ENSMUSG00000021974
AA Change: S10A

DomainStartEndE-ValueType
FGF 1 74 1.24e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000166770
AA Change: S10A

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
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 (FGF) family. FGF family members 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 protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced size, pulmonary hypoplasia, cardiac dilation, impaired testes development resulting in male-to-female sex reversal, abnormal retina, and neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Acsl3 G T 1: 78,666,003 (GRCm39) R143L probably benign Het
Ankrd11 A T 8: 123,622,529 (GRCm39) I420K probably benign Het
Aoc1l2 T A 6: 48,907,486 (GRCm39) I162N probably damaging Het
Cwh43 A G 5: 73,569,213 (GRCm39) E85G probably benign Het
Dnah1 G T 14: 30,988,375 (GRCm39) F3442L possibly damaging Het
Dock6 T A 9: 21,716,124 (GRCm39) N1737I probably damaging Het
Fcf1 A G 12: 85,020,921 (GRCm39) Y55C possibly damaging Het
Fer1l6 T A 15: 58,462,352 (GRCm39) Y802* probably null Het
Fhad1 A G 4: 141,682,617 (GRCm39) I508T possibly damaging Het
Flnc T C 6: 29,461,201 (GRCm39) V2692A probably damaging Het
Gm38119 G T 3: 92,645,380 (GRCm39) H71Q unknown Het
Hcn1 A T 13: 117,739,388 (GRCm39) H50L unknown Het
Helz2 T C 2: 180,878,189 (GRCm39) T870A possibly damaging Het
Iqcf4 T C 9: 106,445,800 (GRCm39) I116V probably benign Het
Lama5 T A 2: 179,834,285 (GRCm39) I1383F probably benign Het
Lmo2 C T 2: 103,811,417 (GRCm39) T150I probably damaging Het
Mgat4f T A 1: 134,318,655 (GRCm39) W476R probably damaging Het
Myh13 A G 11: 67,251,294 (GRCm39) E1391G probably damaging Het
Mylk T A 16: 34,715,317 (GRCm39) probably null Het
Nat10 A T 2: 103,560,612 (GRCm39) V731D probably damaging Het
Ncapd2 A G 6: 125,145,663 (GRCm39) V1328A probably benign Het
Nfu1 C A 6: 87,002,541 (GRCm39) Q207K probably damaging Het
Nipsnap2 T A 5: 129,816,833 (GRCm39) probably null Het
Npc1 T C 18: 12,324,846 (GRCm39) K1216E possibly damaging Het
Or2r3 C A 6: 42,448,906 (GRCm39) V69L probably benign Het
Phf3 T C 1: 30,843,764 (GRCm39) I1732V probably damaging Het
Rasgrp4 G T 7: 28,837,142 (GRCm39) R67L probably benign Het
Rubcn T C 16: 32,670,091 (GRCm39) D88G probably damaging Het
Slc30a2 T C 4: 134,073,289 (GRCm39) I112T probably damaging Het
Slc35d2 A G 13: 64,268,419 (GRCm39) I78T probably damaging Het
Slc9a4 T A 1: 40,658,277 (GRCm39) M600K probably damaging Het
Slfn8 A G 11: 82,907,562 (GRCm39) I327T probably benign Het
Tas2r118 A G 6: 23,969,470 (GRCm39) I197T probably benign Het
Tex15 A G 8: 34,060,962 (GRCm39) I405V possibly damaging Het
Thsd7b T C 1: 129,605,821 (GRCm39) S521P probably benign Het
Trim36 A G 18: 46,302,407 (GRCm39) L535P probably damaging Het
Trim63 A T 4: 134,043,842 (GRCm39) I102F probably damaging Het
Wdr47 G A 3: 108,550,401 (GRCm39) V809M probably damaging Het
Other mutations in Fgf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
N/A:Fgf9 UTSW 14 58,327,421 (GRCm39) intron probably benign
R2483:Fgf9 UTSW 14 58,347,028 (GRCm39) missense probably benign 0.08
R5714:Fgf9 UTSW 14 58,347,022 (GRCm39) missense probably damaging 1.00
R5871:Fgf9 UTSW 14 58,320,656 (GRCm39) critical splice acceptor site probably null
R9689:Fgf9 UTSW 14 58,310,680 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTTTAAGGCAGAAGTCGTGCG -3'
(R):5'- CCTGGCAAATTTGATCTAGTGAAG -3'

Sequencing Primer
(F):5'- GCCGTTTCCTGACTGAAGC -3'
(R):5'- TGAAACAGCAAGCTGCAG -3'
Posted On 2017-12-01