Incidental Mutation 'R9105:Fgf8'
ID 720351
Institutional Source Beutler Lab
Gene Symbol Fgf8
Ensembl Gene ENSMUSG00000025219
Gene Name fibroblast growth factor 8
Synonyms Fgf-8, Aigf
MMRRC Submission 068917-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9105 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 45725237-45731354 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to C at 45730490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026240] [ENSMUST00000026241] [ENSMUST00000111924] [ENSMUST00000111925] [ENSMUST00000111927] [ENSMUST00000111928]
AlphaFold P37237
Predicted Effect probably benign
Transcript: ENSMUST00000026240
SMART Domains Protein: ENSMUSP00000026240
Gene: ENSMUSG00000025219

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 49 58 N/A INTRINSIC
FGF 79 207 1.22e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000026241
SMART Domains Protein: ENSMUSP00000026241
Gene: ENSMUSG00000025219

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FGF 103 231 1.22e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111924
SMART Domains Protein: ENSMUSP00000107555
Gene: ENSMUSG00000025219

DomainStartEndE-ValueType
FGF 1 103 1.56e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111925
SMART Domains Protein: ENSMUSP00000107556
Gene: ENSMUSG00000025219

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FGF 68 196 1.22e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111927
SMART Domains Protein: ENSMUSP00000107558
Gene: ENSMUSG00000025219

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FGF 39 167 1.22e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111928
SMART Domains Protein: ENSMUSP00000107559
Gene: ENSMUSG00000025219

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FGF 50 178 1.22e-48 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.0%
Validation Efficiency 98% (62/63)
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 (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 is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit cardiovascular defects (including abnormal left-right axis determination), impaired limb, thymic, and craniofacial development, and prenatal or early postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,439,407 (GRCm39) K139* probably null Het
Acsl5 A T 19: 55,269,002 (GRCm39) K221I probably benign Het
Actrt2 G A 4: 154,751,677 (GRCm39) T153I probably damaging Het
Adam34 C T 8: 44,103,785 (GRCm39) C620Y probably damaging Het
Adgrl2 T C 3: 148,543,289 (GRCm39) K812E possibly damaging Het
Aig1 T C 10: 13,529,339 (GRCm39) T224A probably benign Het
Apbb2 G T 5: 66,460,015 (GRCm39) S694* probably null Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Bcl3 T A 7: 19,543,175 (GRCm39) I352F probably damaging Het
Btbd19 C T 4: 116,977,961 (GRCm39) R276Q probably damaging Het
Btnl9 G A 11: 49,066,461 (GRCm39) P368S probably benign Het
Calhm5 A G 10: 33,968,144 (GRCm39) V303A probably benign Het
Ccdc97 T C 7: 25,412,537 (GRCm39) T302A probably benign Het
Cdh11 T C 8: 103,360,968 (GRCm39) D790G probably damaging Het
Cep350 T C 1: 155,835,561 (GRCm39) N45S probably damaging Het
Col5a2 T A 1: 45,419,366 (GRCm39) Y1238F probably benign Het
Ctdspl2 C T 2: 121,837,351 (GRCm39) L373F probably damaging Het
Dolpp1 A T 2: 30,289,152 (GRCm39) probably null Het
Efr3b A T 12: 4,031,782 (GRCm39) L340Q probably damaging Het
Ehd4 T C 2: 119,932,760 (GRCm39) N222S probably damaging Het
Frmd4a A G 2: 4,539,994 (GRCm39) I205V probably damaging Het
G6pc3 C T 11: 102,084,403 (GRCm39) A271V probably benign Het
Gab1 T C 8: 81,515,589 (GRCm39) D243G probably damaging Het
Gbp9 A G 5: 105,241,942 (GRCm39) I205T probably benign Het
Gtf2b T A 3: 142,489,050 (GRCm39) F304Y probably benign Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Ip6k3 A G 17: 27,364,169 (GRCm39) L293P probably damaging Het
Itgb7 A G 15: 102,135,904 (GRCm39) S44P probably damaging Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lancl1 T A 1: 67,043,962 (GRCm39) Y346F possibly damaging Het
Lca5l T G 16: 95,960,671 (GRCm39) E602A probably damaging Het
Lcor G A 19: 41,573,311 (GRCm39) A689T possibly damaging Het
Lrp1b A G 2: 41,396,803 (GRCm39) V421A Het
Lrrtm3 A G 10: 63,924,336 (GRCm39) V277A possibly damaging Het
Lypla1 T C 1: 4,911,282 (GRCm39) L189P probably damaging Het
Msantd3 A T 4: 48,560,963 (GRCm39) N180Y possibly damaging Het
Muc17 T C 5: 137,171,238 (GRCm39) Y131C Het
Myo19 T C 11: 84,794,029 (GRCm39) I651T probably damaging Het
Ndst2 T C 14: 20,780,070 (GRCm39) S57G probably benign Het
Or12d16-ps1 C T 17: 37,705,731 (GRCm39) T100I probably benign Het
Or1j14 A G 2: 36,418,294 (GRCm39) Y290C probably damaging Het
Or4c117 C T 2: 88,955,995 (GRCm39) V27I probably benign Het
Or6p1 T A 1: 174,258,861 (GRCm39) I289N probably damaging Het
Pik3c2a T C 7: 115,972,049 (GRCm39) T794A probably benign Het
Pla2g6 T A 15: 79,183,397 (GRCm39) probably null Het
Pnrc1 C A 4: 33,246,207 (GRCm39) G251* probably null Het
Pramel14 A T 4: 143,718,595 (GRCm39) probably benign Het
Psg17 A T 7: 18,555,333 (GRCm39) V3E probably benign Het
Psmb9 A T 17: 34,401,905 (GRCm39) probably benign Het
Slc12a5 A G 2: 164,838,114 (GRCm39) T982A probably benign Het
Srrd T C 5: 112,485,465 (GRCm39) D286G possibly damaging Het
Tcp10b T C 17: 13,285,236 (GRCm39) S153P probably benign Het
Tmem131 C A 1: 36,854,591 (GRCm39) S886I probably benign Het
Ttk T A 9: 83,745,544 (GRCm39) D630E probably damaging Het
Vnn3 T C 10: 23,740,461 (GRCm39) W255R probably damaging Het
Vps13c T G 9: 67,778,081 (GRCm39) probably benign Het
Wdfy3 T C 5: 102,030,512 (GRCm39) Q2332R probably benign Het
Xkr8 A T 4: 132,459,648 (GRCm39) Y43* probably null Het
Other mutations in Fgf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02184:Fgf8 APN 19 45,725,655 (GRCm39) missense probably damaging 1.00
IGL02282:Fgf8 APN 19 45,725,529 (GRCm39) missense possibly damaging 0.72
IGL03083:Fgf8 APN 19 45,725,667 (GRCm39) missense probably damaging 1.00
R1499:Fgf8 UTSW 19 45,730,786 (GRCm39) missense possibly damaging 0.46
R1967:Fgf8 UTSW 19 45,730,007 (GRCm39) missense probably damaging 1.00
R4603:Fgf8 UTSW 19 45,726,592 (GRCm39) missense probably benign 0.22
R5621:Fgf8 UTSW 19 45,730,821 (GRCm39) missense probably benign 0.05
R7187:Fgf8 UTSW 19 45,730,106 (GRCm39) missense probably benign 0.17
R7831:Fgf8 UTSW 19 45,730,876 (GRCm39) missense probably benign 0.00
R8032:Fgf8 UTSW 19 45,725,676 (GRCm39) missense probably damaging 1.00
R9532:Fgf8 UTSW 19 45,725,679 (GRCm39) missense probably damaging 1.00
R9731:Fgf8 UTSW 19 45,730,846 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- CCCAGGATGGATGGATGAAC -3'
(R):5'- TGGATGGGAAGGCTACCTGTAG -3'

Sequencing Primer
(F):5'- TGGATGGATGAACCCGGG -3'
(R):5'- TACCTGTAGCCACACCTGG -3'
Posted On 2022-07-20