Incidental Mutation 'R3743:Fgf14'
ID 270467
Institutional Source Beutler Lab
Gene Symbol Fgf14
Ensembl Gene ENSMUSG00000025551
Gene Name fibroblast growth factor 14
Synonyms Fhf4
MMRRC Submission 040729-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R3743 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 124215319-124914539 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 124914032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 33 (G33V)
Ref Sequence ENSEMBL: ENSMUSP00000093185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095529]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000095529
AA Change: G33V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093185
Gene: ENSMUSG00000025551
AA Change: G33V

DomainStartEndE-ValueType
FGF 74 205 1.75e-63 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (43/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A G 4: 137,182,348 (GRCm39) R168G probably damaging Het
1700030K09Rik A G 8: 73,199,013 (GRCm39) H140R probably benign Het
Adamts10 A G 17: 33,747,686 (GRCm39) I41V probably damaging Het
Arnt T C 3: 95,382,016 (GRCm39) V198A possibly damaging Het
Atg3 A G 16: 44,998,591 (GRCm39) probably null Het
Atmin T C 8: 117,683,312 (GRCm39) V324A probably benign Het
Ccdc88c G A 12: 100,914,843 (GRCm39) R464C probably damaging Het
Ccr7 G T 11: 99,036,033 (GRCm39) S296R possibly damaging Het
Cdh12 T A 15: 21,537,745 (GRCm39) S415R probably damaging Het
Cep162 A T 9: 87,099,230 (GRCm39) probably benign Het
Chd3 G A 11: 69,254,876 (GRCm39) R61* probably null Het
Cr2 A G 1: 194,832,274 (GRCm39) probably benign Het
Csf1r T C 18: 61,247,846 (GRCm39) S305P probably benign Het
Cyp4a31 A C 4: 115,423,716 (GRCm39) Q140P possibly damaging Het
Dhx40 A T 11: 86,661,985 (GRCm39) W691R probably damaging Het
Dlgap1 G A 17: 71,025,221 (GRCm39) probably null Het
Entr1 A G 2: 26,278,655 (GRCm39) probably benign Het
Exoc5 T C 14: 49,251,806 (GRCm39) I582V probably benign Het
Exoc5 A T 14: 49,270,864 (GRCm39) L387* probably null Het
Fbxw8 A G 5: 118,251,704 (GRCm39) S270P probably damaging Het
Hoxd9 T A 2: 74,528,710 (GRCm39) V104E probably damaging Het
Igsf10 T C 3: 59,233,546 (GRCm39) H1729R possibly damaging Het
Irf8 C T 8: 121,480,310 (GRCm39) R274C probably damaging Het
Itgb4 G A 11: 115,894,496 (GRCm39) M1350I probably damaging Het
Lrrn4 A G 2: 132,711,786 (GRCm39) probably null Het
Map3k6 C T 4: 132,972,384 (GRCm39) T320I probably benign Het
Morc2a A G 11: 3,633,700 (GRCm39) E604G possibly damaging Het
Mtmr6 T C 14: 60,537,747 (GRCm39) I582T probably benign Het
Ninl A G 2: 150,792,168 (GRCm39) V785A probably benign Het
Obscn T C 11: 58,969,911 (GRCm39) E77G probably damaging Het
Or2b11 T C 11: 59,462,335 (GRCm39) Y77C probably damaging Het
Or2n1 T G 17: 38,486,793 (GRCm39) F273V probably damaging Het
Or4f61 A G 2: 111,922,965 (GRCm39) L27P probably benign Het
Pcdhb2 A G 18: 37,429,470 (GRCm39) D124G probably damaging Het
Pfkl G A 10: 77,832,179 (GRCm39) T304M probably damaging Het
Ppil4 T A 10: 7,696,935 (GRCm39) S483T unknown Het
Slc7a10 C T 7: 34,898,325 (GRCm39) T332I probably damaging Het
Spats2 T C 15: 99,108,795 (GRCm39) S382P probably benign Het
Stpg1 T A 4: 135,242,197 (GRCm39) D70E probably benign Het
Tmprss11e G A 5: 86,857,315 (GRCm39) Q333* probably null Het
Trpv1 A T 11: 73,145,128 (GRCm39) D430V probably damaging Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Zc3h6 A G 2: 128,839,712 (GRCm39) Y175C probably damaging Het
Other mutations in Fgf14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:Fgf14 APN 14 124,217,784 (GRCm39) missense possibly damaging 0.51
IGL02733:Fgf14 APN 14 124,221,213 (GRCm39) missense probably damaging 1.00
IGL02939:Fgf14 APN 14 124,369,891 (GRCm39) missense possibly damaging 0.82
R0517:Fgf14 UTSW 14 124,221,196 (GRCm39) missense probably damaging 1.00
R0608:Fgf14 UTSW 14 124,914,015 (GRCm39) missense probably damaging 0.99
R1034:Fgf14 UTSW 14 124,369,946 (GRCm39) missense probably damaging 0.96
R1183:Fgf14 UTSW 14 124,913,936 (GRCm39) missense probably benign 0.03
R1466:Fgf14 UTSW 14 124,913,951 (GRCm39) missense probably benign 0.19
R1466:Fgf14 UTSW 14 124,913,951 (GRCm39) missense probably benign 0.19
R1584:Fgf14 UTSW 14 124,913,951 (GRCm39) missense probably benign 0.19
R1768:Fgf14 UTSW 14 124,913,924 (GRCm39) missense probably benign 0.00
R2190:Fgf14 UTSW 14 124,221,330 (GRCm39) missense probably damaging 1.00
R2307:Fgf14 UTSW 14 124,221,234 (GRCm39) missense probably damaging 1.00
R3847:Fgf14 UTSW 14 124,217,801 (GRCm39) missense probably benign 0.05
R4859:Fgf14 UTSW 14 124,429,845 (GRCm39) missense possibly damaging 0.78
R5529:Fgf14 UTSW 14 124,217,867 (GRCm39) missense probably damaging 1.00
R5655:Fgf14 UTSW 14 124,429,828 (GRCm39) missense probably benign
R6242:Fgf14 UTSW 14 124,913,940 (GRCm39) missense probably benign 0.02
R6958:Fgf14 UTSW 14 124,914,009 (GRCm39) missense probably benign
R7460:Fgf14 UTSW 14 124,914,105 (GRCm39) missense possibly damaging 0.92
R7726:Fgf14 UTSW 14 124,373,656 (GRCm39) missense probably damaging 1.00
R8900:Fgf14 UTSW 14 124,221,326 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTGCATAGCAAAACTGCAG -3'
(R):5'- AATCATTCACCCTGGCCGAC -3'

Sequencing Primer
(F):5'- AACTGCAGACCTAGCTCCGTG -3'
(R):5'- AAAACAATCGCTGAGAAGTCTC -3'
Posted On 2015-03-18