Incidental Mutation 'IGL02136:Fgf14'
ID281319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf14
Ensembl Gene ENSMUSG00000025551
Gene Namefibroblast growth factor 14
SynonymsFhf4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.149) question?
Stock #IGL02136
Quality Score
Status
Chromosome14
Chromosomal Location123977907-124677127 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 123980372 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 240 (P240S)
Ref Sequence ENSEMBL: ENSMUSP00000026631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026631] [ENSMUST00000049681] [ENSMUST00000095529] [ENSMUST00000132026]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026631
AA Change: P240S

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026631
Gene: ENSMUSG00000025551
AA Change: P240S

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
FGF 69 200 1.75e-63 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000049681
SMART Domains Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
internal_repeat_1 62 164 7.9e-12 PROSPERO
EGF_like 184 217 6.95e1 SMART
EGF 275 311 2.25e1 SMART
low complexity region 335 348 N/A INTRINSIC
Pfam:EGF_2 368 398 3.6e-8 PFAM
low complexity region 423 438 N/A INTRINSIC
low complexity region 448 456 N/A INTRINSIC
Blast:EGF_like 457 486 4e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000095529
AA Change: P245S

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000093185
Gene: ENSMUSG00000025551
AA Change: P245S

DomainStartEndE-ValueType
FGF 74 205 1.75e-63 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117453
Predicted Effect probably benign
Transcript: ENSMUST00000132026
SMART Domains Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925

DomainStartEndE-ValueType
internal_repeat_2 22 50 3.54e-8 PROSPERO
internal_repeat_1 23 87 7.45e-14 PROSPERO
low complexity region 101 126 N/A INTRINSIC
EGF 151 187 2.25e1 SMART
low complexity region 211 224 N/A INTRINSIC
Pfam:EGF_2 239 274 1.5e-7 PFAM
low complexity region 299 314 N/A INTRINSIC
low complexity region 324 332 N/A INTRINSIC
internal_repeat_2 334 362 3.54e-8 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186300
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,247,142 T2511K probably damaging Het
Acta2 T A 19: 34,251,830 D53V probably damaging Het
Banf1 G A 19: 5,365,070 A71V probably benign Het
Cacng5 A T 11: 107,881,731 I97N probably benign Het
Clec14a T A 12: 58,268,629 E69V probably damaging Het
Cracr2a T C 6: 127,629,930 probably benign Het
Dysf A G 6: 84,108,167 R845G probably benign Het
Dzip3 T C 16: 48,927,582 N949S possibly damaging Het
Eprs T G 1: 185,384,983 W408G probably damaging Het
Fpgt G T 3: 155,093,352 A2E probably benign Het
Galntl5 T A 5: 25,220,062 S392R probably benign Het
Gatd1 A G 7: 141,408,960 *221Q probably null Het
Gcsam T A 16: 45,610,533 M1K probably null Het
Ksr2 A G 5: 117,616,894 N351S possibly damaging Het
Map1a T C 2: 121,300,212 V503A probably damaging Het
Myl12a T A 17: 70,996,856 K9* probably null Het
Ncapg2 A T 12: 116,460,583 M1129L probably benign Het
Olfr228 T C 2: 86,483,465 I92M probably damaging Het
Olfr744 T C 14: 50,618,251 S10P possibly damaging Het
Otof T C 5: 30,373,992 K1691E possibly damaging Het
Pdk4 A T 6: 5,486,715 M353K probably damaging Het
Pkhd1 A T 1: 20,275,615 W2730R probably damaging Het
Pkn2 T A 3: 142,853,590 K58I probably damaging Het
Plk5 T C 10: 80,363,167 probably null Het
Prkcq T C 2: 11,260,668 F399L probably benign Het
Ptprz1 G A 6: 22,972,822 V244M probably damaging Het
Rpusd2 T C 2: 119,038,178 F361L probably damaging Het
Rttn T A 18: 89,046,128 L1168I possibly damaging Het
S100a9 T C 3: 90,692,768 H107R probably benign Het
Serpinb3a T A 1: 107,046,285 M299L probably benign Het
Slfn8 G A 11: 83,003,465 Q783* probably null Het
Smc3 T C 19: 53,635,716 I721T probably benign Het
Top2b C A 14: 16,407,103 probably benign Het
Uvssa T A 5: 33,391,848 W351R probably damaging Het
Vmn2r107 G T 17: 20,374,906 V574L probably benign Het
Wdr3 G A 3: 100,138,725 R931* probably null Het
Other mutations in Fgf14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02733:Fgf14 APN 14 123983801 missense probably damaging 1.00
IGL02939:Fgf14 APN 14 124132479 missense possibly damaging 0.82
R0517:Fgf14 UTSW 14 123983784 missense probably damaging 1.00
R0608:Fgf14 UTSW 14 124676603 missense probably damaging 0.99
R1034:Fgf14 UTSW 14 124132534 missense probably damaging 0.96
R1183:Fgf14 UTSW 14 124676524 missense probably benign 0.03
R1466:Fgf14 UTSW 14 124676539 missense probably benign 0.19
R1466:Fgf14 UTSW 14 124676539 missense probably benign 0.19
R1584:Fgf14 UTSW 14 124676539 missense probably benign 0.19
R1768:Fgf14 UTSW 14 124676512 missense probably benign 0.00
R2190:Fgf14 UTSW 14 123983918 missense probably damaging 1.00
R2307:Fgf14 UTSW 14 123983822 missense probably damaging 1.00
R3743:Fgf14 UTSW 14 124676620 missense probably benign
R3847:Fgf14 UTSW 14 123980389 missense probably benign 0.05
R4859:Fgf14 UTSW 14 124192433 missense possibly damaging 0.78
R5529:Fgf14 UTSW 14 123980455 missense probably damaging 1.00
R5655:Fgf14 UTSW 14 124192416 missense probably benign
R6242:Fgf14 UTSW 14 124676528 missense probably benign 0.02
R6958:Fgf14 UTSW 14 124676597 missense probably benign
R7460:Fgf14 UTSW 14 124676693 missense possibly damaging 0.92
R7726:Fgf14 UTSW 14 124136244 missense probably damaging 1.00
Posted On2015-04-16