Incidental Mutation 'IGL00162:Fgf6'
ID1552
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf6
Ensembl Gene ENSMUSG00000000183
Gene Namefibroblast growth factor 6
SynonymsFgf-6
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00162
Quality Score
Status
Chromosome6
Chromosomal Location127015586-127028187 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 127024085 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 185 (K185N)
Ref Sequence ENSEMBL: ENSMUSP00000000187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000187]
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
C330021F23Rik A G 8: 3,583,904 T2A probably benign Het
Cc2d1b T G 4: 108,627,378 L470R probably damaging Het
Cd96 A T 16: 46,071,799 N275K possibly damaging Het
Col22a1 A G 15: 71,860,958 probably null Het
Cyb561 T C 11: 105,935,836 H197R probably damaging Het
Dlgap1 T C 17: 70,516,085 S22P probably benign Het
Dnajc6 A G 4: 101,508,089 probably benign Het
Fshr T C 17: 88,986,191 N353S probably damaging Het
Gabbr1 T A 17: 37,048,443 Y103* probably null Het
Gm7247 G A 14: 51,523,505 C177Y possibly damaging Het
Hikeshi A G 7: 89,935,781 F72L probably damaging Het
Ikzf4 T C 10: 128,634,547 E368G probably benign Het
Kdm3b A G 18: 34,809,409 E851G probably benign Het
Kif3b A G 2: 153,317,131 D284G probably damaging Het
Kyat3 G A 3: 142,734,474 A320T probably benign Het
Mok C T 12: 110,808,197 probably benign Het
Mrgpra3 A G 7: 47,589,519 F220L probably benign Het
Nr4a1 T C 15: 101,270,899 V272A probably damaging Het
Olfr1124 A G 2: 87,435,063 H192R probably benign Het
Olfr703 A G 7: 106,845,367 Y252C possibly damaging Het
Pikfyve T A 1: 65,260,121 probably null Het
Plekhn1 T G 4: 156,223,363 T369P probably damaging Het
Ptpn12 T C 5: 21,029,850 E45G probably damaging Het
Ralgps1 A T 2: 33,137,682 *516R probably null Het
Senp6 A G 9: 80,116,610 D385G probably damaging Het
Siglech T C 7: 55,772,591 probably benign Het
Slit1 A G 19: 41,650,835 L212P probably damaging Het
Smchd1 T A 17: 71,465,673 probably benign Het
Snapc4 A T 2: 26,369,312 C609S probably benign Het
Strn3 T C 12: 51,661,196 T139A possibly damaging Het
Tcaf3 T C 6: 42,593,385 T478A probably benign Het
Tlr3 A G 8: 45,400,690 S198P probably damaging Het
Ttn C T 2: 76,890,479 probably benign Het
Vil1 G A 1: 74,423,875 E406K probably damaging Het
Zfp462 A G 4: 55,011,483 probably null Het
Zfyve9 A G 4: 108,642,107 V1338A possibly damaging Het
Other mutations in Fgf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03290:Fgf6 APN 6 127024132 missense probably damaging 1.00
R2111:Fgf6 UTSW 6 127015760 missense probably damaging 0.99
R6113:Fgf6 UTSW 6 127015937 splice site probably null
R8278:Fgf6 UTSW 6 127015818 missense probably damaging 1.00
Posted On2011-07-12