Incidental Mutation 'R7726:Fgf14'
ID 595516
Institutional Source Beutler Lab
Gene Symbol Fgf14
Ensembl Gene ENSMUSG00000025551
Gene Name fibroblast growth factor 14
Synonyms Fhf4
MMRRC Submission 045782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R7726 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 123977907-124677127 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124136244 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 86 (Y86C)
Ref Sequence ENSEMBL: ENSMUSP00000093185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026631] [ENSMUST00000095529]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026631
AA Change: Y81C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026631
Gene: ENSMUSG00000025551
AA Change: Y81C

low complexity region 23 34 N/A INTRINSIC
FGF 69 200 1.75e-63 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000095529
AA Change: Y86C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093185
Gene: ENSMUSG00000025551
AA Change: Y86C

FGF 74 205 1.75e-63 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (65/65)
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. 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
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik C A 1: 26,684,498 (GRCm38) A534S probably benign Het
A230050P20Rik T C 9: 20,873,165 (GRCm38) Y182H possibly damaging Het
Adam34 T G 8: 43,651,171 (GRCm38) N479T probably damaging Het
Add3 C G 19: 53,239,461 (GRCm38) L526V probably damaging Het
Alas1 T C 9: 106,246,951 (GRCm38) T3A probably benign Het
Arap3 C T 18: 37,989,467 (GRCm38) D579N probably damaging Het
Armc6 C A 8: 70,222,598 (GRCm38) D326Y probably damaging Het
Atp6v1e2 G A 17: 86,944,385 (GRCm38) T195I probably damaging Het
Atrnl1 A G 19: 57,702,072 (GRCm38) E904G probably damaging Het
Bhlhe40 T A 6: 108,662,598 (GRCm38) D112E probably benign Het
Brf1 T G 12: 112,964,245 (GRCm38) K438T probably benign Het
Cabs1 A T 5: 87,980,286 (GRCm38) E265D probably damaging Het
Ccdc162 T A 10: 41,553,075 (GRCm38) M1937L probably benign Het
Cd55b A T 1: 130,411,493 (GRCm38) S299R possibly damaging Het
Chordc1 A G 9: 18,302,214 (GRCm38) *120W probably null Het
Col17a1 C A 19: 47,655,190 (GRCm38) probably null Het
Cpne8 A T 15: 90,501,418 (GRCm38) I469K possibly damaging Het
Crtac1 G T 19: 42,302,251 (GRCm38) S337* probably null Het
Cx3cl1 T C 8: 94,780,239 (GRCm38) S291P probably damaging Het
Dhx36 G T 3: 62,488,968 (GRCm38) Q423K probably benign Het
Eif3h G T 15: 51,786,823 (GRCm38) Q322K possibly damaging Het
Ero1lb A G 13: 12,605,833 (GRCm38) *494W probably null Het
Exph5 G A 9: 53,373,175 (GRCm38) V519I possibly damaging Het
Fam184a C A 10: 53,633,706 (GRCm38) E126* probably null Het
Fam208a C A 14: 27,447,497 (GRCm38) N338K probably damaging Het
Fam222b A G 11: 78,153,751 (GRCm38) D46G probably damaging Het
Fbxl6 C A 15: 76,535,886 (GRCm38) R509L probably damaging Het
Fras1 A T 5: 96,712,451 (GRCm38) I2119F probably benign Het
Gm14085 A G 2: 122,486,733 (GRCm38) E25G probably damaging Het
Gpr37 G A 6: 25,669,117 (GRCm38) T576I possibly damaging Het
Hnrnpul2 G T 19: 8,831,280 (GRCm38) R702L possibly damaging Het
Iqgap1 T C 7: 80,757,456 (GRCm38) N342S probably benign Het
Kcnh6 T C 11: 106,017,575 (GRCm38) V339A probably benign Het
Klk1b9 A T 7: 43,978,416 (GRCm38) N46I possibly damaging Het
Kndc1 C A 7: 139,939,838 (GRCm38) S1703R possibly damaging Het
Lyn C A 4: 3,756,428 (GRCm38) Y306* probably null Het
Manba C T 3: 135,518,009 (GRCm38) T219M probably benign Het
Mastl T C 2: 23,140,795 (GRCm38) probably null Het
Med15 T G 16: 17,655,174 (GRCm38) M550L possibly damaging Het
Men1 G A 19: 6,337,282 (GRCm38) probably null Het
Mettl11b A G 1: 163,703,184 (GRCm38) C229R probably benign Het
Msh4 C T 3: 153,866,320 (GRCm38) probably null Het
Myh6 G T 14: 54,965,365 (GRCm38) D32E probably damaging Het
Ntn4 A G 10: 93,733,682 (GRCm38) D419G possibly damaging Het
Nup155 C T 15: 8,122,139 (GRCm38) P393S probably damaging Het
Olfr1389 T A 11: 49,430,900 (GRCm38) C141* probably null Het
Olfr1415 A T 1: 92,491,307 (GRCm38) F149L probably benign Het
Palm2 C T 4: 57,709,876 (GRCm38) P274S probably damaging Het
Papss2 A T 19: 32,634,003 (GRCm38) probably null Het
Pcdhgc3 T C 18: 37,806,879 (GRCm38) V111A possibly damaging Het
Pcnx2 C T 8: 125,850,330 (GRCm38) V988I probably benign Het
Pom121 C T 5: 135,378,148 (GRCm38) G1178S probably damaging Het
Prss33 A G 17: 23,834,229 (GRCm38) C213R probably damaging Het
Scap G A 9: 110,378,367 (GRCm38) probably null Het
Sirpb1c T A 3: 15,848,386 (GRCm38) I10F possibly damaging Het
Spink5 T C 18: 43,963,352 (GRCm38) L16P probably damaging Het
Stk4 T G 2: 164,110,226 (GRCm38) M1R probably null Het
Stub1 A T 17: 25,831,132 (GRCm38) Y253* probably null Het
Tbce A G 13: 14,029,290 (GRCm38) V29A probably damaging Het
Tchhl1 A G 3: 93,471,758 (GRCm38) R590G probably benign Het
Tmem173 C T 18: 35,735,265 (GRCm38) A261T probably damaging Het
Ubr4 C T 4: 139,458,920 (GRCm38) P613L unknown Het
Vmn2r3 G T 3: 64,275,518 (GRCm38) C253* probably null Het
Wfdc8 C A 2: 164,599,986 (GRCm38) E215D possibly damaging Het
Zfp874b T C 13: 67,473,856 (GRCm38) D441G probably benign Het
Zscan4d G T 7: 11,165,242 (GRCm38) P36Q possibly damaging Het
Other mutations in Fgf14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:Fgf14 APN 14 123,980,372 (GRCm38) missense possibly damaging 0.51
IGL02733:Fgf14 APN 14 123,983,801 (GRCm38) missense probably damaging 1.00
IGL02939:Fgf14 APN 14 124,132,479 (GRCm38) missense possibly damaging 0.82
R0517:Fgf14 UTSW 14 123,983,784 (GRCm38) missense probably damaging 1.00
R0608:Fgf14 UTSW 14 124,676,603 (GRCm38) missense probably damaging 0.99
R1034:Fgf14 UTSW 14 124,132,534 (GRCm38) missense probably damaging 0.96
R1183:Fgf14 UTSW 14 124,676,524 (GRCm38) missense probably benign 0.03
R1466:Fgf14 UTSW 14 124,676,539 (GRCm38) missense probably benign 0.19
R1466:Fgf14 UTSW 14 124,676,539 (GRCm38) missense probably benign 0.19
R1584:Fgf14 UTSW 14 124,676,539 (GRCm38) missense probably benign 0.19
R1768:Fgf14 UTSW 14 124,676,512 (GRCm38) missense probably benign 0.00
R2190:Fgf14 UTSW 14 123,983,918 (GRCm38) missense probably damaging 1.00
R2307:Fgf14 UTSW 14 123,983,822 (GRCm38) missense probably damaging 1.00
R3743:Fgf14 UTSW 14 124,676,620 (GRCm38) missense probably benign
R3847:Fgf14 UTSW 14 123,980,389 (GRCm38) missense probably benign 0.05
R4859:Fgf14 UTSW 14 124,192,433 (GRCm38) missense possibly damaging 0.78
R5529:Fgf14 UTSW 14 123,980,455 (GRCm38) missense probably damaging 1.00
R5655:Fgf14 UTSW 14 124,192,416 (GRCm38) missense probably benign
R6242:Fgf14 UTSW 14 124,676,528 (GRCm38) missense probably benign 0.02
R6958:Fgf14 UTSW 14 124,676,597 (GRCm38) missense probably benign
R7460:Fgf14 UTSW 14 124,676,693 (GRCm38) missense possibly damaging 0.92
R8900:Fgf14 UTSW 14 123,983,914 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-11-12