Incidental Mutation 'IGL02926:Fgf5'
ID363889
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf5
Ensembl Gene ENSMUSG00000029337
Gene Namefibroblast growth factor 5
SynonymsFgf-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL02926
Quality Score
Status
Chromosome5
Chromosomal Location98254184-98277030 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 98262015 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 141 (A141E)
Ref Sequence ENSEMBL: ENSMUSP00000031280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031280] [ENSMUST00000200059]
Predicted Effect probably damaging
Transcript: ENSMUST00000031280
AA Change: A141E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031280
Gene: ENSMUSG00000029337
AA Change: A141E

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 34 72 N/A INTRINSIC
FGF 83 217 3.78e-77 SMART
low complexity region 231 244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200059
SMART Domains Protein: ENSMUSP00000142420
Gene: ENSMUSG00000029337

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 34 72 N/A INTRINSIC
Pfam:FGF 85 120 5.6e-7 PFAM
Meta Mutation Damage Score 0.09 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted protein that is a member of a family of heparin-binding growth factors. The encoded protein regulates cell proliferation, particularly the growth of hair follicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mutations in this gene result in significantly longer pelage hair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C T 2: 130,712,366 R921K probably benign Het
Alms1 A T 6: 85,641,450 D2826V probably damaging Het
Alpl C T 4: 137,742,634 A460T probably damaging Het
C2cd5 A G 6: 143,031,237 probably benign Het
C4b C T 17: 34,730,712 R1468Q possibly damaging Het
Calu A G 6: 29,366,920 T44A possibly damaging Het
Cgn T C 3: 94,778,016 K399R probably benign Het
Cyp2t4 G A 7: 27,157,803 V356M probably damaging Het
D430041D05Rik T C 2: 104,214,259 D683G probably damaging Het
Dhcr24 T A 4: 106,586,355 I410N probably damaging Het
Dmap1 T A 4: 117,681,888 E17V probably benign Het
Dnah7a A G 1: 53,495,950 I2717T possibly damaging Het
Epb41l3 G T 17: 69,247,746 K280N probably damaging Het
Espl1 T A 15: 102,299,855 M432K probably damaging Het
Fto T A 8: 91,485,167 F373L probably damaging Het
Gpatch1 T C 7: 35,308,269 D122G probably damaging Het
Ints11 T C 4: 155,888,111 probably null Het
Jarid2 A G 13: 44,902,929 Q398R probably benign Het
Kcnh1 A G 1: 192,276,900 D254G probably damaging Het
Lamc3 C T 2: 31,935,725 probably benign Het
Lamc3 C T 2: 31,935,726 probably benign Het
Ltbp4 T C 7: 27,328,872 probably null Het
Mcm6 A G 1: 128,339,382 Y575H probably damaging Het
Myh9 A C 15: 77,787,626 Y422D probably damaging Het
Narfl A G 17: 25,782,154 H460R probably benign Het
Olfr1260 T C 2: 89,978,162 L128P probably damaging Het
Olfr1458 A C 19: 13,102,823 N160K possibly damaging Het
Olfr911-ps1 T C 9: 38,523,725 probably benign Het
Plcb1 T C 2: 135,364,762 probably benign Het
Pmfbp1 A G 8: 109,520,249 E251G probably damaging Het
Psg27 A T 7: 18,557,129 V383E probably damaging Het
Ptprn A T 1: 75,247,873 H946Q possibly damaging Het
Rbl1 A G 2: 157,167,413 V734A probably benign Het
Rspry1 T A 8: 94,649,811 N320K probably damaging Het
Ryr1 A T 7: 29,061,540 V3219D probably damaging Het
Ryr2 C A 13: 11,759,835 W1145L probably damaging Het
Scel A T 14: 103,576,247 R319* probably null Het
Stxbp2 C T 8: 3,635,629 T226I probably benign Het
Tac1 A T 6: 7,562,410 N106I possibly damaging Het
Trim13 G T 14: 61,605,244 probably null Het
Tspan31 T G 10: 127,068,909 probably null Het
Usp36 C T 11: 118,264,783 V723M probably benign Het
Utrn A T 10: 12,690,760 N1219K probably damaging Het
Vcan G T 13: 89,688,623 T2934K probably damaging Het
Other mutations in Fgf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Fgf5 APN 5 98275316 missense probably damaging 1.00
IGL02037:Fgf5 APN 5 98261972 missense probably damaging 1.00
IGL02125:Fgf5 APN 5 98254532 missense possibly damaging 0.55
porcupine UTSW 5 98254746 missense probably damaging 1.00
splinter UTSW 5 98261987 nonsense probably null
ANU22:Fgf5 UTSW 5 98275316 missense probably damaging 1.00
R0090:Fgf5 UTSW 5 98261987 nonsense probably null
R2146:Fgf5 UTSW 5 98275550 makesense probably null
R5023:Fgf5 UTSW 5 98262015 missense probably damaging 0.99
R6035:Fgf5 UTSW 5 98275526 missense probably damaging 1.00
R6035:Fgf5 UTSW 5 98275526 missense probably damaging 1.00
X0018:Fgf5 UTSW 5 98254436 missense unknown
Posted On2015-12-18