Incidental Mutation 'IGL00162:Fgf6'
ID 1552
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf6
Ensembl Gene ENSMUSG00000000183
Gene Name fibroblast growth factor 6
Synonyms Fgf-6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00162
Quality Score
Status
Chromosome 6
Chromosomal Location 126992505-127001681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127001048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 185 (K185N)
Ref Sequence ENSEMBL: ENSMUSP00000000187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000187]
AlphaFold P21658
Predicted Effect possibly damaging
Transcript: ENSMUST00000000187
AA Change: K185N

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000187
Gene: ENSMUSG00000000183
AA Change: K185N

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
FGF 82 208 9.54e-65 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 displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations appear phenotypically normal, but exhibit a defect in skeletal muscle regeneration following injury. Mutant myoblasts show decreased migrational ability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cc2d1b T G 4: 108,484,575 (GRCm39) L470R probably damaging Het
Cd96 A T 16: 45,892,162 (GRCm39) N275K possibly damaging Het
Col22a1 A G 15: 71,732,807 (GRCm39) probably null Het
Cyb561 T C 11: 105,826,662 (GRCm39) H197R probably damaging Het
Dlgap1 T C 17: 70,823,080 (GRCm39) S22P probably benign Het
Dnajc6 A G 4: 101,365,286 (GRCm39) probably benign Het
Fshr T C 17: 89,293,619 (GRCm39) N353S probably damaging Het
Gabbr1 T A 17: 37,359,335 (GRCm39) Y103* probably null Het
Gm7247 G A 14: 51,760,962 (GRCm39) C177Y possibly damaging Het
Hikeshi A G 7: 89,584,989 (GRCm39) F72L probably damaging Het
Ikzf4 T C 10: 128,470,416 (GRCm39) E368G probably benign Het
Kdm3b A G 18: 34,942,462 (GRCm39) E851G probably benign Het
Kif3b A G 2: 153,159,051 (GRCm39) D284G probably damaging Het
Kyat3 G A 3: 142,440,235 (GRCm39) A320T probably benign Het
Mok C T 12: 110,774,631 (GRCm39) probably benign Het
Mrgpra3 A G 7: 47,239,267 (GRCm39) F220L probably benign Het
Nr4a1 T C 15: 101,168,780 (GRCm39) V272A probably damaging Het
Or10ag58 A G 2: 87,265,407 (GRCm39) H192R probably benign Het
Or2ag19 A G 7: 106,444,574 (GRCm39) Y252C possibly damaging Het
Pikfyve T A 1: 65,299,280 (GRCm39) probably null Het
Plekhn1 T G 4: 156,307,820 (GRCm39) T369P probably damaging Het
Ptpn12 T C 5: 21,234,848 (GRCm39) E45G probably damaging Het
Ralgps1 A T 2: 33,027,694 (GRCm39) *516R probably null Het
Rps23rg1 A G 8: 3,633,904 (GRCm39) T2A probably benign Het
Senp6 A G 9: 80,023,892 (GRCm39) D385G probably damaging Het
Siglech T C 7: 55,422,339 (GRCm39) probably benign Het
Slit1 A G 19: 41,639,274 (GRCm39) L212P probably damaging Het
Smchd1 T A 17: 71,772,668 (GRCm39) probably benign Het
Snapc4 A T 2: 26,259,324 (GRCm39) C609S probably benign Het
Strn3 T C 12: 51,707,979 (GRCm39) T139A possibly damaging Het
Tcaf3 T C 6: 42,570,319 (GRCm39) T478A probably benign Het
Tlr3 A G 8: 45,853,727 (GRCm39) S198P probably damaging Het
Ttn C T 2: 76,720,823 (GRCm39) probably benign Het
Vil1 G A 1: 74,463,034 (GRCm39) E406K probably damaging Het
Zfp462 A G 4: 55,011,483 (GRCm39) probably null Het
Zfyve9 A G 4: 108,499,304 (GRCm39) V1338A possibly damaging Het
Other mutations in Fgf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03290:Fgf6 APN 6 127,001,095 (GRCm39) missense probably damaging 1.00
R2111:Fgf6 UTSW 6 126,992,723 (GRCm39) missense probably damaging 0.99
R6113:Fgf6 UTSW 6 126,992,900 (GRCm39) splice site probably null
R8278:Fgf6 UTSW 6 126,992,781 (GRCm39) missense probably damaging 1.00
R9489:Fgf6 UTSW 6 126,992,814 (GRCm39) missense probably damaging 1.00
Posted On 2011-07-12