Incidental Mutation 'IGL01305:Fgf5'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf5
Ensembl Gene ENSMUSG00000029337
Gene Namefibroblast growth factor 5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.229) question?
Stock #IGL01305
Quality Score
Chromosomal Location98254184-98277030 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98275316 bp
Amino Acid Change Tyrosine to Histidine at position 187 (Y187H)
Ref Sequence ENSEMBL: ENSMUSP00000031280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031280] [ENSMUST00000200059]
Predicted Effect probably damaging
Transcript: ENSMUST00000031280
AA Change: Y187H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031280
Gene: ENSMUSG00000029337
AA Change: Y187H

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

signal peptide 1 20 N/A INTRINSIC
low complexity region 34 72 N/A INTRINSIC
Pfam:FGF 85 120 5.6e-7 PFAM
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
Aco2 A G 15: 81,913,714 E663G possibly damaging Het
Adam29 T A 8: 55,871,844 H525L probably benign Het
Adamts6 T A 13: 104,390,082 V506E probably damaging Het
Ankfy1 G A 11: 72,764,791 E1101K probably damaging Het
Arap3 C T 18: 37,991,327 probably null Het
Asxl3 T A 18: 22,516,446 H497Q probably benign Het
Caln1 A G 5: 130,669,551 E96G probably damaging Het
Cdh23 T C 10: 60,312,624 T2653A probably damaging Het
Cdk5rap2 T A 4: 70,380,235 I87F possibly damaging Het
Chil1 A G 1: 134,182,816 probably benign Het
Col27a1 A G 4: 63,300,741 probably benign Het
Crybg3 T A 16: 59,529,227 H934L probably damaging Het
Cyp2d22 G A 15: 82,371,668 T461I probably damaging Het
Dhcr24 T C 4: 106,572,278 F183L possibly damaging Het
Dnajc13 T C 9: 104,230,637 probably null Het
Dusp16 A T 6: 134,718,861 S336T probably benign Het
F930017D23Rik T G 10: 43,604,375 noncoding transcript Het
Fasl A G 1: 161,781,838 V193A probably damaging Het
Focad C A 4: 88,393,547 Q1423K probably benign Het
Gabrp T C 11: 33,555,055 T249A probably damaging Het
Galnt5 A T 2: 58,025,342 K637* probably null Het
Gm20479 G A 7: 27,357,387 R2525* probably null Het
Grm6 A T 11: 50,859,519 D503V probably benign Het
Hmg20a A T 9: 56,487,650 D216V probably damaging Het
Lyst C T 13: 13,678,056 R2214C probably benign Het
Micu2 T A 14: 57,943,625 D184V probably damaging Het
Nabp2 T A 10: 128,408,762 I52F probably damaging Het
Nat8f7 A T 6: 85,707,588 L90* probably null Het
Olfr1297 T C 2: 111,621,201 N291S probably damaging Het
Olfr30 A T 11: 58,455,262 M229K probably damaging Het
Pphln1 A G 15: 93,489,104 E273G probably damaging Het
Ppil1 C A 17: 29,263,888 V14F possibly damaging Het
Relt A T 7: 100,851,698 L28Q probably damaging Het
Rpl21 A G 5: 146,834,186 probably benign Het
Rrp36 A T 17: 46,668,091 probably benign Het
St8sia5 G A 18: 77,254,662 G320D probably damaging Het
Taf2 T C 15: 55,048,274 E582G probably damaging Het
Tas2r116 T A 6: 132,855,443 N2K probably benign Het
Tmem168 A T 6: 13,583,046 V612E probably damaging Het
Unc79 A G 12: 103,001,871 S119G probably damaging Het
Washc5 T A 15: 59,355,839 K425* probably null Het
Wdr61 C A 9: 54,728,186 V44L probably damaging Het
Wtap G T 17: 12,967,895 T255K probably benign Het
Zfp148 T C 16: 33,456,943 V134A probably benign Het
Other mutations in Fgf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02037:Fgf5 APN 5 98261972 missense probably damaging 1.00
IGL02125:Fgf5 APN 5 98254532 missense possibly damaging 0.55
IGL02926:Fgf5 APN 5 98262015 missense probably damaging 0.99
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
PIT4472001:Fgf5 UTSW 5 98261979 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 On2013-10-07