Incidental Mutation 'IGL02282:Fgf8'
ID289888
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf8
Ensembl Gene ENSMUSG00000025219
Gene Namefibroblast growth factor 8
SynonymsAigf, Fgf-8
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02282
Quality Score
Status
Chromosome19
Chromosomal Location45736798-45742915 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45737090 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 201 (H201R)
Ref Sequence ENSEMBL: ENSMUSP00000107556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026240] [ENSMUST00000026241] [ENSMUST00000111924] [ENSMUST00000111925] [ENSMUST00000111927] [ENSMUST00000111928]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026240
AA Change: H212R

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026240
Gene: ENSMUSG00000025219
AA Change: H212R

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: H236R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000026241
Gene: ENSMUSG00000025219
AA Change: H236R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FGF 103 231 1.22e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111924
AA Change: H108R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107555
Gene: ENSMUSG00000025219
AA Change: H108R

DomainStartEndE-ValueType
FGF 1 103 1.56e-28 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111925
AA Change: H201R

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107556
Gene: ENSMUSG00000025219
AA Change: H201R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FGF 68 196 1.22e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111927
AA Change: H172R

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107558
Gene: ENSMUSG00000025219
AA Change: H172R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FGF 39 167 1.22e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111928
AA Change: H183R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107559
Gene: ENSMUSG00000025219
AA Change: H183R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FGF 50 178 1.22e-48 SMART
Coding Region Coverage
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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik C T 11: 78,284,228 P1730S probably benign Het
Ahnak A G 19: 9,005,987 D1545G probably damaging Het
AI481877 A C 4: 59,111,114 Y53D unknown Het
Baiap3 A C 17: 25,249,377 D234E probably benign Het
Cand1 T A 10: 119,210,709 T959S probably benign Het
Ctdspl2 A G 2: 121,977,478 probably benign Het
Cyp2a4 A C 7: 26,309,047 M205L probably benign Het
Dlx5 G A 6: 6,881,762 A42V probably damaging Het
Dnah7a A G 1: 53,643,510 I267T possibly damaging Het
Dnajb6 A G 5: 29,752,418 D66G probably damaging Het
Gpc1 A G 1: 92,857,967 K460E probably damaging Het
Gzme A T 14: 56,118,369 L162Q probably damaging Het
Ik G A 18: 36,745,644 G17D probably damaging Het
Il4 G A 11: 53,618,174 T59M probably damaging Het
Kcnh3 G T 15: 99,228,043 probably null Het
Mill1 G T 7: 18,263,204 probably null Het
Npbwr1 A T 1: 5,916,965 M110K possibly damaging Het
Olfr1490 T A 19: 13,655,258 D276E probably damaging Het
Olfr849 A G 9: 19,441,618 Y235C probably benign Het
Olfr881 A T 9: 37,993,022 I177F probably damaging Het
Opalin A T 19: 41,066,504 S84T probably benign Het
Pcdhb11 T C 18: 37,423,828 L737P probably damaging Het
Phip G A 9: 82,913,690 S626L probably benign Het
Ppl T C 16: 5,101,458 D435G probably damaging Het
Prss37 A G 6: 40,515,383 V178A possibly damaging Het
Ptpn7 A G 1: 135,134,834 I104V probably damaging Het
Ptprn A G 1: 75,253,156 Y700H probably damaging Het
Rab11fip5 T A 6: 85,337,552 T555S probably damaging Het
Rfwd3 A T 8: 111,293,982 probably benign Het
Robo1 G A 16: 72,742,138 R41H probably damaging Het
Rps3 A G 7: 99,479,272 probably null Het
Ruvbl2 G A 7: 45,425,165 T183I probably benign Het
Sema4c A T 1: 36,550,203 probably null Het
Taar8b T A 10: 24,091,555 K247I possibly damaging Het
Tacr3 A T 3: 134,861,073 I236F probably benign Het
Ttc21b A G 2: 66,191,737 I1168T probably damaging Het
Ttc9b A T 7: 27,655,911 D202V probably damaging Het
Vmn2r26 T G 6: 124,061,625 C720G probably damaging Het
Vmn2r37 A G 7: 9,206,762 S584P probably benign Het
Wnk2 T A 13: 49,068,125 D1208V probably damaging Het
Zfp988 T A 4: 147,331,668 C186* probably null Het
Zp3 A G 5: 135,984,351 N179S possibly damaging Het
Other mutations in Fgf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02184:Fgf8 APN 19 45737216 missense probably damaging 1.00
IGL03083:Fgf8 APN 19 45737228 missense probably damaging 1.00
R1499:Fgf8 UTSW 19 45742347 missense possibly damaging 0.46
R1967:Fgf8 UTSW 19 45741568 missense probably damaging 1.00
R4603:Fgf8 UTSW 19 45738153 missense probably benign 0.22
R5621:Fgf8 UTSW 19 45742382 missense probably benign 0.05
R7187:Fgf8 UTSW 19 45741667 missense probably benign 0.17
Posted On2015-04-16