Incidental Mutation 'IGL01667:Fgf22'
ID103356
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf22
Ensembl Gene ENSMUSG00000020327
Gene Namefibroblast growth factor 22
Synonyms2210414E06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01667
Quality Score
Status
Chromosome10
Chromosomal Location79755076-79758596 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 79756754 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 115 (P115L)
Ref Sequence ENSEMBL: ENSMUSP00000020577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020577] [ENSMUST00000047203] [ENSMUST00000219228] [ENSMUST00000219981]
Predicted Effect probably damaging
Transcript: ENSMUST00000020577
AA Change: P115L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020577
Gene: ENSMUSG00000020327
AA Change: P115L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FGF 30 159 1.73e-62 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047203
SMART Domains Protein: ENSMUSP00000039486
Gene: ENSMUSG00000035890

DomainStartEndE-ValueType
Pfam:zinc_ribbon_9 9 40 5e-11 PFAM
low complexity region 109 121 N/A INTRINSIC
low complexity region 124 139 N/A INTRINSIC
RING 231 271 5.68e-9 SMART
low complexity region 293 313 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219189
Predicted Effect probably benign
Transcript: ENSMUST00000219228
Predicted Effect probably benign
Transcript: ENSMUST00000219981
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. The mouse homolog of this gene was found to be preferentially expressed in the inner root sheath of the hair follicle, which suggested a role in hair development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired vesicle clustering in glutamatergic synapses, decreased miniature excitatory postsynaptic currents, enhanced paired-pulse facilitation, increased synaptic depression, and decreased susceptibility topentylenetetrazol-induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,570,019 T57A probably damaging Het
Akna G T 4: 63,379,159 T886N probably benign Het
Aqp9 A G 9: 71,138,213 V38A probably benign Het
Awat2 C T X: 100,404,254 G124D probably damaging Het
Camsap1 A G 2: 25,945,281 probably benign Het
Catsperg2 T C 7: 29,710,133 Y545C probably damaging Het
Cldn23 A G 8: 35,825,920 F138S possibly damaging Het
Clec4a3 A C 6: 122,952,860 probably benign Het
Dlgap3 C A 4: 127,233,897 T786K probably benign Het
Dnah2 A C 11: 69,544,395 S50A probably benign Het
Dnah2 A T 11: 69,520,941 I285N probably damaging Het
Dnah7a A G 1: 53,547,292 Y1467H probably damaging Het
Fzd2 G T 11: 102,605,782 V351L possibly damaging Het
Gapdhs T A 7: 30,736,637 E174V possibly damaging Het
Gjc2 A C 11: 59,177,518 I46S probably damaging Het
Gm5581 T C 6: 131,167,772 noncoding transcript Het
Krt2 C A 15: 101,816,330 V282L possibly damaging Het
Myh15 G A 16: 49,195,579 V1873M probably benign Het
Myo1b T C 1: 51,760,377 T931A probably damaging Het
Myo6 A T 9: 80,289,893 K965N unknown Het
Olfr1441 T C 19: 12,422,756 V149A probably benign Het
Pcnx3 T C 19: 5,686,630 R160G probably benign Het
Slc22a16 T C 10: 40,585,018 I272T probably damaging Het
Slc35b4 A G 6: 34,167,675 Y82H possibly damaging Het
Spdya T C 17: 71,556,259 M1T probably null Het
St6gal1 A G 16: 23,321,424 N115S probably benign Het
Tbc1d12 A T 19: 38,914,300 probably benign Het
Tfrc A G 16: 32,624,443 probably benign Het
Trip11 A C 12: 101,878,862 F1539C probably damaging Het
Ttn A T 2: 76,781,078 I15624N possibly damaging Het
Vmn1r169 A T 7: 23,577,800 M206L probably benign Het
Zfp362 A G 4: 128,787,109 L141P probably damaging Het
Zfp692 A G 11: 58,311,553 H378R probably damaging Het
Zfp799 T C 17: 32,821,820 Q52R possibly damaging Het
Other mutations in Fgf22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Fgf22 APN 10 79756890 missense probably damaging 1.00
IGL02213:Fgf22 APN 10 79756615 missense probably damaging 1.00
R1108:Fgf22 UTSW 10 79756583 missense probably damaging 1.00
R1650:Fgf22 UTSW 10 79755189 missense probably damaging 1.00
R2138:Fgf22 UTSW 10 79756601 missense probably damaging 1.00
R5549:Fgf22 UTSW 10 79756862 missense probably damaging 1.00
R6289:Fgf22 UTSW 10 79755207 missense probably damaging 1.00
R6320:Fgf22 UTSW 10 79756996 utr 3 prime probably benign
R7363:Fgf22 UTSW 10 79756842 missense probably benign
RF017:Fgf22 UTSW 10 79756846 missense probably benign 0.01
Posted On2014-01-21