Incidental Mutation 'IGL02679:Fgf3'
ID 303277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf3
Ensembl Gene ENSMUSG00000031074
Gene Name fibroblast growth factor 3
Synonyms Int-2, Int-P, Fgf-3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02679
Quality Score
Status
Chromosome 7
Chromosomal Location 144392349-144397085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 144394487 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 81,018,813 (GRCm39) probably benign Het
Adam5 A T 8: 25,296,542 (GRCm39) Y302N probably damaging Het
Ankrd34c A T 9: 89,612,132 (GRCm39) Y70N probably damaging Het
Asph G A 4: 9,601,349 (GRCm39) P190S possibly damaging Het
Atp6v1h T C 1: 5,194,525 (GRCm39) C235R probably damaging Het
Brwd1 A G 16: 95,804,023 (GRCm39) L2049P probably benign Het
Capn2 T A 1: 182,300,149 (GRCm39) I614F probably benign Het
Ccdc126 T A 6: 49,310,995 (GRCm39) M1K probably null Het
Cdh9 T C 15: 16,832,316 (GRCm39) I401T probably damaging Het
Cep57l1 T C 10: 41,605,382 (GRCm39) E121G probably damaging Het
Cfap46 A G 7: 139,194,386 (GRCm39) I2276T probably damaging Het
Cnnm3 T C 1: 36,559,239 (GRCm39) S490P probably benign Het
D430041D05Rik C T 2: 104,060,650 (GRCm39) V731I possibly damaging Het
Dynlt2b T C 16: 32,244,125 (GRCm39) V107A possibly damaging Het
Gas7 G A 11: 67,566,553 (GRCm39) probably null Het
Gfm1 C T 3: 67,382,100 (GRCm39) P725S possibly damaging Het
Gimap4 T A 6: 48,667,429 (GRCm39) C61* probably null Het
Greb1 C T 12: 16,758,724 (GRCm39) R664Q probably damaging Het
Kpnb1 T A 11: 97,068,086 (GRCm39) I295F possibly damaging Het
Lamc3 A G 2: 31,835,410 (GRCm39) E1577G probably benign Het
Lrrk1 C T 7: 65,924,620 (GRCm39) V235M probably damaging Het
Meak7 A T 8: 120,499,149 (GRCm39) D114E probably benign Het
Mipol1 T A 12: 57,352,829 (GRCm39) V56E possibly damaging Het
Mycbp2 T C 14: 103,442,621 (GRCm39) I1927V probably benign Het
Ncaph A T 2: 126,966,784 (GRCm39) N223K possibly damaging Het
Nipbl A G 15: 8,325,037 (GRCm39) M2542T probably benign Het
Nolc1 C A 19: 46,071,468 (GRCm39) probably benign Het
Or10j5 G A 1: 172,784,743 (GRCm39) C127Y probably damaging Het
Or51h1 A G 7: 102,308,384 (GRCm39) M119V possibly damaging Het
Pkhd1l1 T C 15: 44,393,441 (GRCm39) probably null Het
Ppat A T 5: 77,067,316 (GRCm39) C306S probably benign Het
Ptpn13 A T 5: 103,717,320 (GRCm39) M1821L possibly damaging Het
Rabl3 C T 16: 37,362,287 (GRCm39) S42L probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rfx3 G A 19: 27,827,137 (GRCm39) H150Y possibly damaging Het
Rngtt A G 4: 33,356,098 (GRCm39) M312V possibly damaging Het
Slc10a2 T A 8: 5,148,499 (GRCm39) T149S probably damaging Het
Spata21 T C 4: 140,838,576 (GRCm39) probably benign Het
Stx8 G T 11: 67,860,598 (GRCm39) W6C probably damaging Het
Tcn2 T C 11: 3,877,504 (GRCm39) E48G possibly damaging Het
Tecpr1 A T 5: 144,143,364 (GRCm39) N670K probably benign Het
Tmem255b G A 8: 13,507,055 (GRCm39) M240I probably benign Het
Ubr4 G A 4: 139,186,445 (GRCm39) E651K probably damaging Het
Ubr5 T C 15: 38,002,558 (GRCm39) T1498A probably benign Het
Vmn2r95 G A 17: 18,664,116 (GRCm39) C445Y probably damaging Het
Zfp429 T A 13: 67,547,855 (GRCm39) probably benign Het
Zfp804b T G 5: 6,821,392 (GRCm39) D557A possibly damaging Het
Other mutations in Fgf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Fgf3 APN 7 144,394,521 (GRCm39) splice site probably benign
Porkchop UTSW 7 144,394,444 (GRCm39) missense probably damaging 1.00
R0471:Fgf3 UTSW 7 144,396,547 (GRCm39) missense probably damaging 1.00
R1351:Fgf3 UTSW 7 144,394,517 (GRCm39) splice site probably benign
R4428:Fgf3 UTSW 7 144,394,444 (GRCm39) missense probably damaging 1.00
R5184:Fgf3 UTSW 7 144,396,547 (GRCm39) missense probably damaging 1.00
R5677:Fgf3 UTSW 7 144,392,520 (GRCm39) nonsense probably null
R5756:Fgf3 UTSW 7 144,396,688 (GRCm39) missense probably benign 0.44
R7267:Fgf3 UTSW 7 144,392,569 (GRCm39) missense probably damaging 1.00
R9480:Fgf3 UTSW 7 144,396,619 (GRCm39) missense possibly damaging 0.68
Posted On 2015-04-16