Incidental Mutation 'R7831:Fgf8'
ID 605670
Institutional Source Beutler Lab
Gene Symbol Fgf8
Ensembl Gene ENSMUSG00000025219
Gene Name fibroblast growth factor 8
Synonyms Fgf-8, Aigf
MMRRC Submission 045885-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7831 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 45725237-45731354 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45730876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 50 (P50S)
Ref Sequence ENSEMBL: ENSMUSP00000026241 (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
AA Change: P50S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026241
Gene: ENSMUSG00000025219
AA Change: P50S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (87/87)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,247,404 (GRCm39) V2384I possibly damaging Het
Acsl1 A G 8: 46,972,043 (GRCm39) D297G probably benign Het
Ap2a1 C A 7: 44,550,436 (GRCm39) R944L probably damaging Het
Apbb1ip A G 2: 22,756,933 (GRCm39) Y398C probably damaging Het
Atp8a2 A T 14: 60,011,202 (GRCm39) V968D probably damaging Het
Becn1 T C 11: 101,181,279 (GRCm39) T341A probably benign Het
Card11 G T 5: 140,859,167 (GRCm39) S1126R possibly damaging Het
Ccdc51 T C 9: 108,921,058 (GRCm39) L315S probably damaging Het
Cdk12 T C 11: 98,140,653 (GRCm39) L1298P unknown Het
Cep170b A T 12: 112,711,234 (GRCm39) D1538V probably benign Het
Cfap52 A T 11: 67,826,782 (GRCm39) F348I possibly damaging Het
Clip1 A T 5: 123,751,342 (GRCm39) M813K Het
Col19a1 G A 1: 24,565,563 (GRCm39) T256I unknown Het
Col6a3 A T 1: 90,724,268 (GRCm39) C2027* probably null Het
Crisp4 A T 1: 18,199,013 (GRCm39) N140K probably benign Het
Crocc2 G T 1: 93,143,195 (GRCm39) A1266S probably benign Het
Cyfip2 G A 11: 46,087,273 (GRCm39) R1206C probably damaging Het
Cyp24a1 T A 2: 170,327,860 (GRCm39) M461L probably damaging Het
Cyp2a5 C T 7: 26,534,940 (GRCm39) T51I possibly damaging Het
Cyp2b19 C T 7: 26,466,565 (GRCm39) H398Y possibly damaging Het
Cyp4a29 G A 4: 115,107,367 (GRCm39) V234I probably benign Het
Dicer1 T G 12: 104,675,059 (GRCm39) K734N probably damaging Het
Dnai1 T C 4: 41,614,695 (GRCm39) probably null Het
Entpd3 G A 9: 120,373,025 (GRCm39) G14D probably damaging Het
Entrep3 G A 3: 89,091,520 (GRCm39) probably null Het
Ermp1 T C 19: 29,595,367 (GRCm39) T634A probably benign Het
Evc C T 5: 37,476,427 (GRCm39) G374D probably damaging Het
Fcgbp C A 7: 27,806,404 (GRCm39) T2124K probably damaging Het
Fmnl1 C T 11: 103,088,999 (GRCm39) R1074W unknown Het
Galnt18 C T 7: 111,155,665 (GRCm39) V223M possibly damaging Het
Galnt2 A G 8: 125,058,817 (GRCm39) N295S probably benign Het
Grip1 T G 10: 119,854,011 (GRCm39) V600G probably damaging Het
Insm2 T A 12: 55,647,323 (GRCm39) C356S probably damaging Het
Itpr2 T A 6: 146,193,082 (GRCm39) I1672F probably benign Het
Kdm1b T G 13: 47,204,098 (GRCm39) N76K probably benign Het
Khnyn T A 14: 56,125,303 (GRCm39) probably null Het
Kidins220 C T 12: 25,111,230 (GRCm39) A1167V possibly damaging Het
Krt40 T C 11: 99,432,087 (GRCm39) D208G probably benign Het
Lars1 T A 18: 42,350,627 (GRCm39) D894V probably benign Het
Lmx1a A T 1: 167,668,521 (GRCm39) N266I probably benign Het
Mrgprb5 T A 7: 47,817,997 (GRCm39) K246M probably benign Het
Mrpl2 G A 17: 46,959,598 (GRCm39) G176R possibly damaging Het
Muc21 T A 17: 35,929,651 (GRCm39) T1512S unknown Het
Nell1 T A 7: 49,632,548 (GRCm39) F60L possibly damaging Het
Nnt G A 13: 119,506,630 (GRCm39) A453V possibly damaging Het
Opa1 A G 16: 29,467,755 (GRCm39) K940R probably benign Het
Opn5 A C 17: 42,891,510 (GRCm39) I309S probably null Het
Or1af1 C T 2: 37,109,723 (GRCm39) T74I probably damaging Het
Or1r1 A C 11: 73,875,257 (GRCm39) M59R probably damaging Het
Or2ag15 T A 7: 106,340,620 (GRCm39) I174F probably damaging Het
P3h3 T G 6: 124,832,118 (GRCm39) E256A possibly damaging Het
Pald1 G T 10: 61,191,593 (GRCm39) T65K probably damaging Het
Pcnx3 T C 19: 5,735,989 (GRCm39) Y279C probably damaging Het
Pik3c2b G A 1: 132,998,980 (GRCm39) S367N possibly damaging Het
Pik3cb T C 9: 98,970,666 (GRCm39) T342A probably benign Het
Pkd1l3 A T 8: 110,357,990 (GRCm39) E837D possibly damaging Het
Ppp2r2b T A 18: 42,834,597 (GRCm39) Y191F probably benign Het
Ppp4r4 G A 12: 103,557,080 (GRCm39) E439K possibly damaging Het
Ptprk A G 10: 28,444,404 (GRCm39) I946V possibly damaging Het
Ror1 A G 4: 100,298,295 (GRCm39) N556S probably benign Het
Ryr3 C T 2: 112,757,183 (GRCm39) A391T possibly damaging Het
Selp G A 1: 163,972,584 (GRCm39) probably null Het
Setx T C 2: 29,047,120 (GRCm39) L1866S probably damaging Het
Setx T A 2: 29,069,866 (GRCm39) V2557E possibly damaging Het
Slc66a3 T A 12: 17,047,632 (GRCm39) probably null Het
Slit2 A G 5: 48,402,025 (GRCm39) T805A probably benign Het
Sorbs3 T G 14: 70,440,481 (GRCm39) N89T possibly damaging Het
Sorl1 C A 9: 42,001,257 (GRCm39) V248L probably benign Het
Srebf2 T A 15: 82,066,288 (GRCm39) V612E probably damaging Het
Sv2c T A 13: 96,113,200 (GRCm39) Y583F probably damaging Het
Tada1 G T 1: 166,217,442 (GRCm39) R193I probably damaging Het
Tnrc6b C G 15: 80,764,580 (GRCm39) A694G possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttn C T 2: 76,711,425 (GRCm39) G8372D unknown Het
Ube2g2 A G 10: 77,470,576 (GRCm39) T68A Het
Ubl7 T G 9: 57,821,918 (GRCm39) V89G possibly damaging Het
Ush2a T A 1: 188,492,038 (GRCm39) I3109N probably damaging Het
Utp20 T A 10: 88,598,632 (GRCm39) K115* probably null Het
Vmn2r26 T A 6: 124,016,758 (GRCm39) Y407* probably null Het
Yod1 G T 1: 130,646,986 (GRCm39) V288F probably damaging Het
Zbed5 A C 5: 129,930,798 (GRCm39) N249T possibly damaging Het
Zbtb5 T C 4: 44,995,244 (GRCm39) T47A probably damaging Het
Zcchc14 T C 8: 122,331,984 (GRCm39) T460A not run Het
Zfp712 A C 13: 67,200,483 (GRCm39) probably null Het
Zfyve16 A T 13: 92,658,836 (GRCm39) H358Q probably benign 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
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'- AGGTAGCCTTCCCATCCACC -3'
(R):5'- CTGAGCTGCCTGTGAGTACC -3'

Sequencing Primer
(F):5'- ACCCGAACTGGCCAGTC -3'
(R):5'- TGTGAGTACCGCGGTCG -3'
Posted On 2019-12-20