|Institutional Source||Beutler Lab|
|Gene Name||fibroblast growth factor 14|
|Is this an essential gene?||Probably non essential (E-score: 0.149)|
|Stock #||R7460 (G1)|
|Chromosomal Location||123977907-124677127 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 124676693 bp|
|Amino Acid Change||Arginine to Tryptophan at position 9 (R9W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093185 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095529]|
|Predicted Effect||possibly damaging
AA Change: R9W
PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: R9W
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
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. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display impaired balance and grip strength. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fgf14||
(F):5'- GCAACAGACGGATATTACCAGG -3'
(R):5'- ACCCTTTGGTCATGATCCAG -3'
(F):5'- CATGCTTTGCTTACCAGTTGG -3'
(R):5'- TCATGATCCAGTGGTGATCAAG -3'