|Institutional Source||Beutler Lab|
|Gene Name||fibroblast growth factor 14|
|Is this an essential gene?||Probably non essential (E-score: 0.149)|
|Stock #||R6242 (G1)|
|Chromosomal Location||123977907-124677127 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 124676528 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 64 (K64E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093185 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095529]|
|Predicted Effect||probably benign
AA Change: K64E
PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
AA Change: K64E
|Coding Region Coverage||
|Validation Efficiency||99% (75/76)|
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'- AGAGCTGTTGATCACGGTTTTC -3'
(R):5'- TAAAACCGGTGCCCCTCTTC -3'
(F):5'- ATCCGGCGGTGGCTACTTG -3'
(R):5'- TGCCCCTCTTCAGGAGAAC -3'