Incidental Mutation 'R7187:Fgf8'
ID 559396
Institutional Source Beutler Lab
Gene Symbol Fgf8
Ensembl Gene ENSMUSG00000025219
Gene Name fibroblast growth factor 8
Synonyms Fgf-8, Aigf
MMRRC Submission 045377-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7187 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 45725237-45731354 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45730106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 57 (S57P)
Ref Sequence ENSEMBL: ENSMUSP00000026240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026240] [ENSMUST00000026241] [ENSMUST00000111924] [ENSMUST00000111925] [ENSMUST00000111927] [ENSMUST00000111928]
AlphaFold P37237
Predicted Effect probably benign
Transcript: ENSMUST00000026240
AA Change: S57P

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000026240
Gene: ENSMUSG00000025219
AA Change: S57P

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
AA Change: S28P

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107559
Gene: ENSMUSG00000025219
AA Change: S28P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FGF 50 178 1.22e-48 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,327,733 (GRCm39) Y716C probably damaging Het
Abcc1 A G 16: 14,284,861 (GRCm39) I1237V probably benign Het
Adam34 C T 8: 44,105,565 (GRCm39) A27T probably benign Het
Aff3 T C 1: 38,257,478 (GRCm39) S415G probably damaging Het
Ak7 T C 12: 105,711,532 (GRCm39) Y390H probably benign Het
Arap2 A C 5: 62,826,396 (GRCm39) M1056R probably damaging Het
Brf1 T C 12: 112,923,945 (GRCm39) Y676C unknown Het
Cachd1 T A 4: 100,833,552 (GRCm39) H776Q possibly damaging Het
Cacng7 T C 7: 3,385,183 (GRCm39) V28A probably damaging Het
Camk2g A T 14: 20,792,780 (GRCm39) D359E probably benign Het
Cd209b T C 8: 3,976,638 (GRCm39) D16G probably benign Het
Ceacam5 A G 7: 17,493,410 (GRCm39) E811G possibly damaging Het
Cecr2 T A 6: 120,733,647 (GRCm39) S545T probably benign Het
Cep55 T C 19: 38,048,806 (GRCm39) probably null Het
Ctif C A 18: 75,770,290 (GRCm39) V32L probably damaging Het
Cwc27 G A 13: 104,797,900 (GRCm39) A353V probably benign Het
Dclk3 T A 9: 111,314,064 (GRCm39) S713R probably damaging Het
Dlec1 C T 9: 118,941,214 (GRCm39) H255Y probably benign Het
Dlgap1 A G 17: 70,823,093 (GRCm39) H26R possibly damaging Het
Dydc1 C T 14: 40,800,051 (GRCm39) T19I possibly damaging Het
Efcab12 G A 6: 115,800,474 (GRCm39) P183L not run Het
Eif1ad19 T C 12: 87,740,708 (GRCm39) probably benign Het
Eri3 C A 4: 117,446,343 (GRCm39) Q219K probably benign Het
Fam135a A G 1: 24,083,295 (GRCm39) L310P probably damaging Het
Fgd5 T A 6: 91,965,272 (GRCm39) S502T possibly damaging Het
Gls T C 1: 52,259,139 (GRCm39) E154G probably damaging Het
Gm28042 T C 2: 119,870,176 (GRCm39) L705P probably damaging Het
Golgb1 C A 16: 36,736,512 (GRCm39) Q1961K probably benign Het
Herc3 C A 6: 58,833,616 (GRCm39) Q168K probably benign Het
Il31ra C A 13: 112,682,845 (GRCm39) C168F probably benign Het
Ino80 A T 2: 119,257,072 (GRCm39) D860E probably benign Het
Iqcm T G 8: 76,480,044 (GRCm39) L334R probably benign Het
Lrrk2 A G 15: 91,641,204 (GRCm39) D1587G possibly damaging Het
Map4 T A 9: 109,882,201 (GRCm39) V355E probably benign Het
Mapk13 T A 17: 28,995,361 (GRCm39) I194N probably damaging Het
Mtus2 A G 5: 148,013,515 (GRCm39) T103A probably benign Het
Naglu G T 11: 100,961,158 (GRCm39) G70W probably benign Het
Nlrp4f A T 13: 65,343,201 (GRCm39) M126K possibly damaging Het
Or4c120 T C 2: 89,001,714 (GRCm39) probably benign Het
Or5p61 A T 7: 107,758,585 (GRCm39) V165E probably benign Het
Pdia4 T C 6: 47,790,193 (GRCm39) T16A unknown Het
Pou6f2 G A 13: 18,414,298 (GRCm39) A159V Het
Ripor1 A G 8: 106,344,506 (GRCm39) T547A probably benign Het
Rundc3b A G 5: 8,542,506 (GRCm39) S389P probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats2 T C 15: 99,110,054 (GRCm39) S484P probably benign Het
Supv3l1 G A 10: 62,271,328 (GRCm39) T403I probably damaging Het
Tacstd2 G A 6: 67,512,180 (GRCm39) R171W probably damaging Het
Taok2 A T 7: 126,471,552 (GRCm39) F542L probably damaging Het
Tbc1d31 T A 15: 57,801,459 (GRCm39) N331K possibly damaging Het
Tff2 A T 17: 31,361,200 (GRCm39) C118S probably damaging Het
Tmprss7 G A 16: 45,498,317 (GRCm39) T354I possibly damaging Het
Tmtc3 A T 10: 100,313,774 (GRCm39) F33I probably damaging Het
Tpbpa G A 13: 61,088,399 (GRCm39) probably benign Het
Ube3a G T 7: 58,925,653 (GRCm39) V165F probably benign Het
Vmn2r4 T G 3: 64,322,681 (GRCm39) T13P probably benign Het
Wnt8b A G 19: 44,500,121 (GRCm39) D236G probably benign Het
Ythdf3 C A 3: 16,258,451 (GRCm39) D210E probably benign Het
Zfp110 T A 7: 12,583,753 (GRCm39) Y800* 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
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
R9105:Fgf8 UTSW 19 45,730,490 (GRCm39) intron probably benign
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'- GGGAATGCACCTTACCGAAG -3'
(R):5'- GGGTTCATCCATCCATCCTG -3'

Sequencing Primer
(F):5'- AAGGGGTCTCCGTCTTCTGC -3'
(R):5'- ATCCATCCATCCTGGGCTGG -3'
Posted On 2019-06-26