Incidental Mutation 'R5714:Fgf9'
ID 451067
Institutional Source Beutler Lab
Gene Symbol Fgf9
Ensembl Gene ENSMUSG00000021974
Gene Name fibroblast growth factor 9
Synonyms Eks, glia activating factor
MMRRC Submission 043186-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5714 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 58308004-58350177 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58347022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 205 (L205P)
Ref Sequence ENSEMBL: ENSMUSP00000022545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022545] [ENSMUST00000074654] [ENSMUST00000165526] [ENSMUST00000166770]
AlphaFold P54130
Predicted Effect probably damaging
Transcript: ENSMUST00000022545
AA Change: L205P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022545
Gene: ENSMUSG00000021974
AA Change: L205P

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: L88P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088143
Gene: ENSMUSG00000021974
AA Change: L88P

DomainStartEndE-ValueType
FGF 1 74 1.24e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163985
Predicted Effect probably damaging
Transcript: ENSMUST00000165526
AA Change: L88P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131358
Gene: ENSMUSG00000021974
AA Change: L88P

DomainStartEndE-ValueType
FGF 1 74 1.24e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166770
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 G T 18: 65,438,532 (GRCm39) Q1421K possibly damaging Het
Ankub1 G A 3: 57,580,258 (GRCm39) T133M probably benign Het
Bcar3 G A 3: 122,248,736 (GRCm39) V112M possibly damaging Het
Cacna1s A G 1: 136,039,804 (GRCm39) K1476R probably benign Het
Cdc42ep1 C A 15: 78,733,977 (GRCm39) A359E possibly damaging Het
Cemip T A 7: 83,624,387 (GRCm39) D483V probably damaging Het
Cyp4f39 G A 17: 32,700,799 (GRCm39) R156H probably damaging Het
Dpys T A 15: 39,720,553 (GRCm39) H69L probably damaging Het
Fbxl21 A G 13: 56,674,885 (GRCm39) I79V probably benign Het
Fkbp14 A G 6: 54,562,835 (GRCm39) F144L probably damaging Het
Flnb A C 14: 7,929,073 (GRCm38) D1934A probably damaging Het
Garre1 G A 7: 33,939,941 (GRCm39) Q717* probably null Het
Glul T C 1: 153,782,243 (GRCm39) probably benign Het
Helz T A 11: 107,517,347 (GRCm39) probably null Het
Kap A G 6: 133,828,956 (GRCm39) Y42H probably benign Het
Kcnh8 T C 17: 53,285,150 (GRCm39) V1040A probably benign Het
Kptn A G 7: 15,854,683 (GRCm39) probably null Het
Lypd3 A G 7: 24,338,494 (GRCm39) T182A possibly damaging Het
Mcm5 A C 8: 75,847,538 (GRCm39) D445A probably damaging Het
Mios T A 6: 8,215,434 (GRCm39) I210K probably damaging Het
Nat8f2 A G 6: 85,844,891 (GRCm39) V157A probably benign Het
Or1e16 T A 11: 73,286,187 (GRCm39) probably null Het
Pard3b C A 1: 62,677,075 (GRCm39) A1140E probably null Het
Pcnt A T 10: 76,256,325 (GRCm39) D638E probably damaging Het
Pdgfra T C 5: 75,346,673 (GRCm39) I834T probably damaging Het
Phyhd1 T A 2: 30,169,994 (GRCm39) L162H probably damaging Het
Polg C A 7: 79,101,739 (GRCm39) A1026S possibly damaging Het
Prl7c1 A T 13: 27,962,949 (GRCm39) L18* probably null Het
Rars2 T A 4: 34,645,779 (GRCm39) M232K probably benign Het
Rtl1 A G 12: 109,560,114 (GRCm39) V575A probably damaging Het
Slc18b1 A T 10: 23,674,664 (GRCm39) T40S probably benign Het
Slc22a19 T C 19: 7,688,387 (GRCm39) T58A probably damaging Het
Slc27a6 A T 18: 58,731,625 (GRCm39) E325V probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Srd5a3 T A 5: 76,301,413 (GRCm39) F214Y probably benign Het
Tgfbr2 A T 9: 116,004,092 (GRCm39) L5Q probably damaging Het
Tmem94 C A 11: 115,684,016 (GRCm39) Q779K probably benign Het
Ttn G A 2: 76,652,837 (GRCm39) P216S probably benign Het
Ush2a A T 1: 188,132,454 (GRCm39) Q892L probably benign Het
Vgll4 A T 6: 114,867,737 (GRCm39) M38K possibly damaging Het
Vmn2r109 A G 17: 20,773,121 (GRCm39) I500T probably damaging Het
Vps33a T C 5: 123,707,563 (GRCm39) I135V probably benign Het
Wscd1 T C 11: 71,675,261 (GRCm39) probably null Het
Zfp457 C A 13: 67,444,490 (GRCm39) M4I possibly damaging Het
Zfp532 G A 18: 65,756,606 (GRCm39) G180R possibly damaging Het
Zfp97 A G 17: 17,365,871 (GRCm39) T457A possibly 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
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
Predicted Primers PCR Primer
(F):5'- CAGGAATGTGTGTTCAGAGAAC -3'
(R):5'- CAGAGCAAATTGGCAAGTCCTC -3'

Sequencing Primer
(F):5'- CAGTTTGAAGAGAACTGGTACAACAC -3'
(R):5'- TTGGCAAGTCCTCATCCAAG -3'
Posted On 2017-01-03