Incidental Mutation 'IGL02679:Fgf3'
ID303277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf3
Ensembl Gene ENSMUSG00000031074
Gene Namefibroblast growth factor 3
SynonymsInt-P, Int-2, Fgf-3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02679
Quality Score
Status
Chromosome7
Chromosomal Location144838083-144844436 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 144840750 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 100 (N100K)
Ref Sequence ENSEMBL: ENSMUSP00000101518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105898] [ENSMUST00000155320]
Predicted Effect probably damaging
Transcript: ENSMUST00000105898
AA Change: N100K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101518
Gene: ENSMUSG00000031074
AA Change: N100K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
FGF 42 182 1.13e-66 SMART
low complexity region 206 219 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000155320
AA Change: N100K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115205
Gene: ENSMUSG00000031074
AA Change: N100K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
FGF 42 154 3.75e-40 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 gene was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested the role in inner ear formation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene have short, thickened and curved tails. Otic vesicles are somewhat smaller than normal. Mice with some alleles apparently display more severe phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930442H23Rik T A 10: 81,182,979 probably benign Het
Adam5 A T 8: 24,806,526 Y302N probably damaging Het
Ankrd34c A T 9: 89,730,079 Y70N probably damaging Het
Asph G A 4: 9,601,349 P190S possibly damaging Het
Atp6v1h T C 1: 5,124,302 C235R probably damaging Het
Brwd1 A G 16: 96,002,823 L2049P probably benign Het
Capn2 T A 1: 182,472,584 I614F probably benign Het
Ccdc126 T A 6: 49,334,061 M1K probably null Het
Cdh9 T C 15: 16,832,230 I401T probably damaging Het
Cep57l1 T C 10: 41,729,386 E121G probably damaging Het
Cfap46 A G 7: 139,614,470 I2276T probably damaging Het
Cnnm3 T C 1: 36,520,158 S490P probably benign Het
D430041D05Rik C T 2: 104,230,305 V731I possibly damaging Het
Gas7 G A 11: 67,675,727 probably null Het
Gfm1 C T 3: 67,474,767 P725S possibly damaging Het
Gimap4 T A 6: 48,690,495 C61* probably null Het
Greb1 C T 12: 16,708,723 R664Q probably damaging Het
Kpnb1 T A 11: 97,177,260 I295F possibly damaging Het
Lamc3 A G 2: 31,945,398 E1577G probably benign Het
Lrrk1 C T 7: 66,274,872 V235M probably damaging Het
Mipol1 T A 12: 57,306,043 V56E possibly damaging Het
Mycbp2 T C 14: 103,205,185 I1927V probably benign Het
Ncaph A T 2: 127,124,864 N223K possibly damaging Het
Nipbl A G 15: 8,295,553 M2542T probably benign Het
Nolc1 C A 19: 46,083,029 probably benign Het
Olfr16 G A 1: 172,957,176 C127Y probably damaging Het
Olfr555 A G 7: 102,659,177 M119V possibly damaging Het
Pkhd1l1 T C 15: 44,530,045 probably null Het
Ppat A T 5: 76,919,469 C306S probably benign Het
Ptpn13 A T 5: 103,569,454 M1821L possibly damaging Het
Rabl3 C T 16: 37,541,925 S42L probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rfx3 G A 19: 27,849,737 H150Y possibly damaging Het
Rngtt A G 4: 33,356,098 M312V possibly damaging Het
Slc10a2 T A 8: 5,098,499 T149S probably damaging Het
Spata21 T C 4: 141,111,265 probably benign Het
Stx8 G T 11: 67,969,772 W6C probably damaging Het
Tcn2 T C 11: 3,927,504 E48G possibly damaging Het
Tctex1d2 T C 16: 32,425,307 V107A possibly damaging Het
Tecpr1 A T 5: 144,206,546 N670K probably benign Het
Tldc1 A T 8: 119,772,410 D114E probably benign Het
Tmem255b G A 8: 13,457,055 M240I probably benign Het
Ubr4 G A 4: 139,459,134 E651K probably damaging Het
Ubr5 T C 15: 38,002,314 T1498A probably benign Het
Vmn2r95 G A 17: 18,443,854 C445Y probably damaging Het
Zfp429 T A 13: 67,399,736 probably benign Het
Zfp804b T G 5: 6,771,392 D557A possibly damaging Het
Other mutations in Fgf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Fgf3 APN 7 144840784 splice site probably benign
Porkchop UTSW 7 144840707 missense probably damaging 1.00
R0471:Fgf3 UTSW 7 144842810 missense probably damaging 1.00
R1351:Fgf3 UTSW 7 144840780 splice site probably benign
R4428:Fgf3 UTSW 7 144840707 missense probably damaging 1.00
R5184:Fgf3 UTSW 7 144842810 missense probably damaging 1.00
R5677:Fgf3 UTSW 7 144838783 nonsense probably null
R5756:Fgf3 UTSW 7 144842951 missense probably benign 0.44
R7267:Fgf3 UTSW 7 144838832 missense probably damaging 1.00
Posted On2015-04-16