Incidental Mutation 'IGL02939:Fgf14'
ID 365947
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf14
Ensembl Gene ENSMUSG00000025551
Gene Name fibroblast growth factor 14
Synonyms Fhf4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # IGL02939
Quality Score
Status
Chromosome 14
Chromosomal Location 124215319-124914539 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 124369891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 136 (G136D)
Ref Sequence ENSEMBL: ENSMUSP00000093185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026631] [ENSMUST00000095529]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000026631
AA Change: G131D

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026631
Gene: ENSMUSG00000025551
AA Change: G131D

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
FGF 69 200 1.75e-63 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000095529
AA Change: G136D

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093185
Gene: ENSMUSG00000025551
AA Change: G136D

DomainStartEndE-ValueType
FGF 74 205 1.75e-63 SMART
Coding Region Coverage
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6ap1 A G X: 73,340,924 (GRCm39) D47G probably benign Het
Atr T C 9: 95,747,314 (GRCm39) F199L probably benign Het
Bivm C A 1: 44,182,120 (GRCm39) H443N probably benign Het
Btnl2 A T 17: 34,580,043 (GRCm39) H192L probably benign Het
Ccdc178 A T 18: 22,253,775 (GRCm39) C155S probably benign Het
Celsr1 C A 15: 85,785,673 (GRCm39) V2934L probably benign Het
Celsr3 T C 9: 108,726,652 (GRCm39) S3294P probably damaging Het
Ddx10 T A 9: 53,115,579 (GRCm39) E585V possibly damaging Het
Elapor2 T C 5: 9,511,478 (GRCm39) Y947H probably damaging Het
Eps15l1 A T 8: 73,138,606 (GRCm39) probably benign Het
Erlin1 G T 19: 44,051,491 (GRCm39) T70K probably damaging Het
Ext2 A T 2: 93,534,964 (GRCm39) probably null Het
Fam124a G A 14: 62,793,368 (GRCm39) probably null Het
Fam53a T C 5: 33,765,103 (GRCm39) D201G probably damaging Het
Gdi2 A T 13: 3,614,623 (GRCm39) T323S probably benign Het
Gemin5 A T 11: 58,047,556 (GRCm39) N339K probably damaging Het
Golga4 A G 9: 118,364,522 (GRCm39) E286G probably benign Het
Golga4 A C 9: 118,363,700 (GRCm39) K233T probably damaging Het
Gosr1 A G 11: 76,641,732 (GRCm39) probably benign Het
Haus8 A G 8: 71,708,361 (GRCm39) probably benign Het
Itgb3bp T C 4: 99,690,373 (GRCm39) T49A probably null Het
Ldlrad4 A G 18: 68,387,585 (GRCm39) D299G probably damaging Het
Lpo A G 11: 87,706,004 (GRCm39) M273T possibly damaging Het
Map3k4 T A 17: 12,491,036 (GRCm39) S132C probably damaging Het
Mycbp2 T G 14: 103,414,715 (GRCm39) T2566P probably benign Het
Nalcn T C 14: 123,536,284 (GRCm39) E1255G probably null Het
Nop56 A T 2: 130,120,117 (GRCm39) K157N probably damaging Het
Or10g9 C T 9: 39,912,194 (GRCm39) E110K probably benign Het
Or6c1 A T 10: 129,517,857 (GRCm39) Y250* probably null Het
Pcdh15 A G 10: 74,340,648 (GRCm39) probably benign Het
Pi4ka T C 16: 17,172,074 (GRCm39) H557R probably damaging Het
Plekha4 C T 7: 45,181,787 (GRCm39) Q64* probably null Het
Ppp2r3c G A 12: 55,345,192 (GRCm39) probably benign Het
Rgmb C T 17: 16,027,755 (GRCm39) M321I probably benign Het
Rnf31 T C 14: 55,833,131 (GRCm39) S363P probably benign Het
Sap18b T A 8: 96,552,329 (GRCm39) M113K probably benign Het
Scara3 T A 14: 66,169,105 (GRCm39) M171L probably benign Het
Slc9a2 T G 1: 40,781,863 (GRCm39) M364R probably damaging Het
Sorcs1 C T 19: 50,666,368 (GRCm39) W180* probably null Het
Stat6 T A 10: 127,482,809 (GRCm39) M10K probably benign Het
Sun1 T C 5: 139,221,243 (GRCm39) probably benign Het
Tead2 T C 7: 44,869,858 (GRCm39) probably benign Het
Tjp1 T G 7: 64,964,638 (GRCm39) E844D probably damaging Het
Tmtc2 A G 10: 105,206,411 (GRCm39) S295P probably damaging Het
Ttn G A 2: 76,612,756 (GRCm39) R17108C probably damaging Het
Ubr1 T C 2: 120,711,664 (GRCm39) probably null Het
Vmn2r108 T A 17: 20,691,545 (GRCm39) H326L probably benign Het
Xdh A G 17: 74,250,840 (GRCm39) probably null Het
Zfp385b A G 2: 77,242,403 (GRCm39) S439P probably benign Het
Zfp597 G A 16: 3,683,805 (GRCm39) S317L probably benign Het
Zfp638 A G 6: 83,946,214 (GRCm39) D1081G probably damaging Het
Zfp93 C T 7: 23,974,509 (GRCm39) H165Y possibly 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
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
R3743:Fgf14 UTSW 14 124,914,032 (GRCm39) missense probably benign
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
Posted On 2015-12-18