Incidental Mutation 'N/A:Fgf9'
ID 44
Institutional Source Beutler Lab
Gene Symbol Fgf9
Ensembl Gene ENSMUSG00000021974
Gene Name fibroblast growth factor 9
Synonyms Eks, glia activating factor
Accession Numbers
Essential gene? Not available question?
Stock # N/A of strain 294
Quality Score
Status Validated
Chromosome 14
Chromosomal Location 58308004-58350177 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to A at 58327421 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022545] [ENSMUST00000074654] [ENSMUST00000165526] [ENSMUST00000166770]
AlphaFold P54130
Predicted Effect probably benign
Transcript: ENSMUST00000022545
SMART Domains Protein: ENSMUSP00000022545
Gene: ENSMUSG00000021974

DomainStartEndE-ValueType
low complexity region 22 35 N/A INTRINSIC
FGF 60 191 2.63e-76 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074654
SMART Domains Protein: ENSMUSP00000088143
Gene: ENSMUSG00000021974

DomainStartEndE-ValueType
FGF 1 74 1.24e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165526
SMART Domains Protein: ENSMUSP00000131358
Gene: ENSMUSG00000021974

DomainStartEndE-ValueType
FGF 1 74 1.24e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166770
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 88.7%
  • 3x: 76.0%
Validation Efficiency 91% (106/116)
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016P04Rik T A 6: 13,415,772 (GRCm39) noncoding transcript Homo
Aif1 A G 17: 35,391,496 (GRCm39) L7S possibly damaging Homo
Ankrd26 T C 6: 118,506,535 (GRCm39) D646G probably benign Homo
Cacna1s A G 1: 136,001,247 (GRCm39) I233V probably benign Homo
Cfap92 A T 6: 87,667,773 (GRCm39) noncoding transcript Homo
Chchd4 T C 6: 91,442,187 (GRCm39) Y77C probably damaging Homo
Crocc G A 4: 140,749,057 (GRCm39) R1419C probably damaging Homo
Cyp4f39 A C 17: 32,687,655 (GRCm39) M74L probably benign Homo
Gimap6 T C 6: 48,679,349 (GRCm39) D229G probably damaging Homo
Glp1r T C 17: 31,150,257 (GRCm39) F393S probably damaging Homo
Lrrc7 T G 3: 157,865,977 (GRCm39) I1255L probably benign Homo
Mtrr C A 13: 68,723,516 (GRCm39) probably benign Homo
Pde6b A T 5: 108,576,969 (GRCm39) probably benign Homo
Rbm19 A T 5: 120,282,162 (GRCm39) I840F probably damaging Homo
Serpina3c A C 12: 104,115,864 (GRCm39) S227A probably benign Homo
Spag17 G A 3: 99,889,570 (GRCm39) probably benign Homo
Spmip3 G A 1: 177,561,100 (GRCm39) R13H probably damaging Homo
Zbtb8b T C 4: 129,326,361 (GRCm39) D268G probably benign Homo
Other mutations in Fgf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5823:Fgf9 UTSW 14 58,320,759 (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
Nature of Mutation

DNA sequencing using the SOLiD technique identified a G to T transversion at position 253 of the Gm4515 transcript. The mutated nucleotide causes a leucine to phenylalanine substitution at amino acid 45. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Gm4515 is an uncharacterized gene predicted to encode an 89 amino acid long protein.  No similarity to known domain families is identified in the predicted protein sequence by the SMART program.  
 
The L45F change is predicted to be benign by the PolyPhen program.
Posted On 2009-11-10