Incidental Mutation 'IGL00885:Fgf3'
ID 27742
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 # IGL00885
Quality Score
Status
Chromosome 7
Chromosomal Location 144392349-144397085 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 144394521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105898] [ENSMUST00000155320]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000105898
SMART Domains Protein: ENSMUSP00000101518
Gene: ENSMUSG00000031074

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 benign
Transcript: ENSMUST00000155320
SMART Domains Protein: ENSMUSP00000115205
Gene: ENSMUSG00000031074

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A T 17: 43,025,206 (GRCm39) probably benign Het
Adora2a T G 10: 75,169,285 (GRCm39) F250V probably damaging Het
Atp8b5 T C 4: 43,355,567 (GRCm39) S516P probably damaging Het
Btbd16 A G 7: 130,390,552 (GRCm39) I150V probably damaging Het
Capn13 A T 17: 73,646,420 (GRCm39) I331N possibly damaging Het
Capzb A G 4: 139,014,361 (GRCm39) S233G probably benign Het
Clasp2 A G 9: 113,740,484 (GRCm39) R1171G probably damaging Het
Col16a1 T G 4: 129,990,703 (GRCm39) I1419S probably damaging Het
Coro7 T A 16: 4,452,890 (GRCm39) Y286F probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Cyp11b2 T C 15: 74,725,364 (GRCm39) T252A probably benign Het
Daam1 T A 12: 71,990,865 (GRCm39) C160S unknown Het
Ephx4 T C 5: 107,553,991 (GRCm39) probably benign Het
Fbxo47 A T 11: 97,768,946 (GRCm39) D63E probably benign Het
Fstl4 C T 11: 53,039,809 (GRCm39) T331I possibly damaging Het
Gpr158 T C 2: 21,653,832 (GRCm39) F467S probably damaging Het
Igfbpl1 C T 4: 45,826,478 (GRCm39) V106I probably damaging Het
Ikzf2 T C 1: 69,578,481 (GRCm39) T271A possibly damaging Het
Kat14 T A 2: 144,236,175 (GRCm39) N302K probably benign Het
Kmt2c G T 5: 25,614,169 (GRCm39) Q184K possibly damaging Het
Moxd2 A G 6: 40,861,113 (GRCm39) probably benign Het
Nbeal2 C A 9: 110,467,729 (GRCm39) E479D probably damaging Het
Neo1 A G 9: 58,795,746 (GRCm39) L1231P probably damaging Het
Nfatc3 C T 8: 106,825,809 (GRCm39) P620L probably damaging Het
Nol9 T C 4: 152,126,057 (GRCm39) F253L probably damaging Het
Nutm2 T A 13: 50,628,896 (GRCm39) S653R probably benign Het
Or2n1e A C 17: 38,585,790 (GRCm39) I43L probably benign Het
Or9i16 A T 19: 13,865,532 (GRCm39) M14K probably benign Het
Plcg1 A G 2: 160,600,003 (GRCm39) D921G probably benign Het
Plpp4 A T 7: 128,923,257 (GRCm39) I101F probably damaging Het
Psg17 A T 7: 18,554,091 (GRCm39) L53Q probably damaging Het
Ptpn4 A T 1: 119,730,093 (GRCm39) I20N possibly damaging Het
R3hdm1 A T 1: 128,164,175 (GRCm39) I1030L probably damaging Het
Rpl7 A C 1: 16,172,807 (GRCm39) S171A possibly damaging Het
Snx25 G A 8: 46,491,513 (GRCm39) T859M probably damaging Het
Spata31e5 T C 1: 28,815,926 (GRCm39) E702G unknown Het
Tmem94 A G 11: 115,686,154 (GRCm39) M990V probably damaging Het
Tnnt2 A G 1: 135,774,502 (GRCm39) probably benign Het
Ttn T C 2: 76,540,029 (GRCm39) H34319R possibly damaging Het
Vmn1r72 A G 7: 11,404,424 (GRCm39) V8A probably benign Het
Zbtb41 A G 1: 139,358,062 (GRCm39) T457A probably benign Het
Other mutations in Fgf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02679:Fgf3 APN 7 144,394,487 (GRCm39) missense probably damaging 1.00
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 2013-04-17