Incidental Mutation 'IGL00811:Fgf22'
ID 10326
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf22
Ensembl Gene ENSMUSG00000020327
Gene Name fibroblast growth factor 22
Synonyms 2210414E06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00811
Quality Score
Status
Chromosome 10
Chromosomal Location 79590887-79593629 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79592724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 140 (P140S)
Ref Sequence ENSEMBL: ENSMUSP00000151743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020577] [ENSMUST00000047203] [ENSMUST00000219228] [ENSMUST00000219981]
AlphaFold Q9ESS2
Predicted Effect silent
Transcript: ENSMUST00000020577
SMART Domains Protein: ENSMUSP00000020577
Gene: ENSMUSG00000020327

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 damaging
Transcript: ENSMUST00000219228
AA Change: P140S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agps T C 2: 75,756,316 (GRCm39) F649L probably benign Het
Agrn A T 4: 156,253,231 (GRCm39) D1752E possibly damaging Het
Det1 A G 7: 78,489,807 (GRCm39) V406A probably benign Het
Dhx57 A G 17: 80,560,672 (GRCm39) V955A probably damaging Het
Dpep1 T C 8: 123,926,354 (GRCm39) probably benign Het
Epha7 T A 4: 28,961,285 (GRCm39) probably benign Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Fbxl5 A G 5: 43,915,567 (GRCm39) L614P probably damaging Het
Fem1b A T 9: 62,704,201 (GRCm39) V353D probably damaging Het
Ifi47 T C 11: 48,986,244 (GRCm39) F4L probably benign Het
Kmt2c A C 5: 25,579,531 (GRCm39) S588R possibly damaging Het
Nmrk1 T A 19: 18,622,511 (GRCm39) probably benign Het
Nomo1 C T 7: 45,732,732 (GRCm39) A1165V possibly damaging Het
Osmr G A 15: 6,845,147 (GRCm39) T873I probably benign Het
Pclo A G 5: 14,730,024 (GRCm39) probably benign Het
Rims2 T A 15: 39,155,544 (GRCm39) M115K probably damaging Het
Rora C A 9: 69,278,572 (GRCm39) T299K probably benign Het
Sema6d C A 2: 124,500,389 (GRCm39) P386Q probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Sox18 T C 2: 181,312,213 (GRCm39) E306G probably benign Het
Sptlc1 C A 13: 53,521,414 (GRCm39) A121S probably damaging Het
Ssh2 C T 11: 77,332,752 (GRCm39) A411V probably damaging Het
Trim13 A G 14: 61,842,306 (GRCm39) probably null Het
Vps13c T A 9: 67,855,463 (GRCm39) N2509K probably damaging Het
Other mutations in Fgf22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01667:Fgf22 APN 10 79,592,588 (GRCm39) missense probably damaging 0.96
IGL02213:Fgf22 APN 10 79,592,449 (GRCm39) missense probably damaging 1.00
R1108:Fgf22 UTSW 10 79,592,417 (GRCm39) missense probably damaging 1.00
R1650:Fgf22 UTSW 10 79,591,023 (GRCm39) missense probably damaging 1.00
R2138:Fgf22 UTSW 10 79,592,435 (GRCm39) missense probably damaging 1.00
R5549:Fgf22 UTSW 10 79,592,696 (GRCm39) missense probably damaging 1.00
R6289:Fgf22 UTSW 10 79,591,041 (GRCm39) missense probably damaging 1.00
R6320:Fgf22 UTSW 10 79,592,830 (GRCm39) utr 3 prime probably benign
R7363:Fgf22 UTSW 10 79,592,676 (GRCm39) missense probably benign
RF017:Fgf22 UTSW 10 79,592,680 (GRCm39) missense probably benign 0.01
Posted On 2012-12-06