Incidental Mutation 'IGL01872:Fgf4'
ID 178759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf4
Ensembl Gene ENSMUSG00000050917
Gene Name fibroblast growth factor 4
Synonyms Hstf-1, Fgf-4, Fgfk, Hst1, kFGF
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01872
Quality Score
Status
Chromosome 7
Chromosomal Location 144415123-144418982 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 144415995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 119 (R119*)
Ref Sequence ENSEMBL: ENSMUSP00000056752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060336] [ENSMUST00000208265]
AlphaFold P11403
Predicted Effect probably null
Transcript: ENSMUST00000060336
AA Change: R119*
SMART Domains Protein: ENSMUSP00000056752
Gene: ENSMUSG00000050917
AA Change: R119*

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
low complexity region 51 66 N/A INTRINSIC
FGF 76 202 5.32e-63 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208265
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 oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele undergo implantation but degenerate shortly thereafter. In vitro, cultured embryos show severely impaired proliferation of the inner cell mass. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,058,120 (GRCm39) probably benign Het
Alpk2 A G 18: 65,437,824 (GRCm39) S1657P probably benign Het
Alx4 A G 2: 93,507,818 (GRCm39) N371S probably benign Het
Cby1 T A 15: 79,549,943 (GRCm39) W59R probably damaging Het
Chmp1a A T 8: 123,932,976 (GRCm39) L159Q probably damaging Het
Ciz1 T C 2: 32,268,121 (GRCm39) probably benign Het
Cnksr1 A G 4: 133,956,275 (GRCm39) I603T probably benign Het
Dph1 A C 11: 75,072,167 (GRCm39) F220C probably damaging Het
Epha4 T A 1: 77,359,676 (GRCm39) M726L probably benign Het
Eps8l1 C T 7: 4,475,295 (GRCm39) probably benign Het
Fbxo24 C A 5: 137,611,987 (GRCm39) R313L probably damaging Het
Grb10 T C 11: 11,920,547 (GRCm39) T24A probably damaging Het
Ifi27l2a C T 12: 103,401,719 (GRCm39) A2V probably damaging Het
Ipmk T A 10: 71,208,706 (GRCm39) M165K probably damaging Het
Kcnk2 C T 1: 188,988,780 (GRCm39) G266R probably damaging Het
Mak A C 13: 41,210,131 (GRCm39) M35R probably damaging Het
Mlxipl A T 5: 135,142,545 (GRCm39) I120F probably damaging Het
Nav1 A G 1: 135,381,814 (GRCm39) V1423A probably damaging Het
Olfm4 T C 14: 80,259,368 (GRCm39) *506Q probably null Het
Opn4 T A 14: 34,319,166 (GRCm39) probably benign Het
Or13a26 T C 7: 140,284,176 (GRCm39) L4P possibly damaging Het
Or52ab2 T C 7: 102,970,179 (GRCm39) V187A probably benign Het
Or5g23 T A 2: 85,438,673 (GRCm39) M194L probably benign Het
Otof G A 5: 30,536,598 (GRCm39) probably benign Het
Pde5a G A 3: 122,588,018 (GRCm39) probably null Het
Pik3r1 A T 13: 101,825,625 (GRCm39) D87E probably benign Het
Rbm6 A T 9: 107,660,914 (GRCm39) V883E probably damaging Het
Rptn A G 3: 93,304,154 (GRCm39) S496G probably benign Het
Sap130 A G 18: 31,807,473 (GRCm39) R427G probably damaging Het
Slc26a4 T C 12: 31,589,202 (GRCm39) S415G probably benign Het
Slc5a1 T C 5: 33,311,981 (GRCm39) S458P probably damaging Het
Smg1 A G 7: 117,748,167 (GRCm39) probably benign Het
Sspo G T 6: 48,431,623 (GRCm39) V639L probably damaging Het
Ttn A G 2: 76,729,077 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps54 G A 11: 21,256,940 (GRCm39) A683T probably damaging Het
Zfp354a A T 11: 50,960,164 (GRCm39) N123I possibly damaging Het
Zfpm2 T C 15: 40,965,783 (GRCm39) V624A probably benign Het
Other mutations in Fgf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1758:Fgf4 UTSW 7 144,416,049 (GRCm39) missense probably benign 0.01
R7212:Fgf4 UTSW 7 144,416,523 (GRCm39) missense probably benign 0.03
R7505:Fgf4 UTSW 7 144,415,498 (GRCm39) missense possibly damaging 0.67
R8791:Fgf4 UTSW 7 144,415,408 (GRCm39) missense probably benign 0.00
R9328:Fgf4 UTSW 7 144,416,664 (GRCm39) missense probably damaging 1.00
R9608:Fgf4 UTSW 7 144,415,335 (GRCm39) missense possibly damaging 0.90
Posted On 2014-05-07