|Institutional Source||Beutler Lab|
|Gene Name||fibroblast growth factor 6|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8278 (G1)|
|Chromosomal Location||127015586-127028187 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 127015818 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 78 (Y78F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000187 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000187]|
|Predicted Effect||probably damaging
AA Change: Y78F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y78F
|Coding Region Coverage||
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||
|Other mutations in Fgf6||
(F):5'- TGCAGGCTCTCGTCTTCTTAGG -3'
(R):5'- ACGTTACCCAGCACATCTTC -3'
(F):5'- CTTAGGCGTCCTAGTGGGC -3'
(R):5'- AGCACATCTTCCCTTTAGAGTGCAG -3'