Incidental Mutation 'IGL02213:Fgf22'
ID 284746
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 # IGL02213
Quality Score
Status
Chromosome 10
Chromosomal Location 79590887-79593629 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 79592449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 75 (V75L)
Ref Sequence ENSEMBL: ENSMUSP00000151743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020577] [ENSMUST00000047203] [ENSMUST00000219228] [ENSMUST00000219981]
AlphaFold Q9ESS2
Predicted Effect probably damaging
Transcript: ENSMUST00000020577
AA Change: V69L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020577
Gene: ENSMUSG00000020327
AA Change: V69L

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: V75L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000219981
AA Change: V75L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 G A 9: 54,523,254 (GRCm39) R458C probably damaging Het
Aldh6a1 T A 12: 84,479,326 (GRCm39) probably benign Het
Ankrd13a C T 5: 114,924,029 (GRCm39) R42W probably damaging Het
Arhgef17 T C 7: 100,539,633 (GRCm39) M73V probably benign Het
Borcs6 A G 11: 68,950,679 (GRCm39) E19G probably benign Het
Cacna2d2 C T 9: 107,391,247 (GRCm39) R425C probably damaging Het
Cap2 T A 13: 46,789,087 (GRCm39) probably benign Het
Ccdc146 C T 5: 21,521,902 (GRCm39) R374H probably benign Het
Cdk5rap2 A G 4: 70,235,839 (GRCm39) probably benign Het
Cyp3a57 A G 5: 145,318,090 (GRCm39) D357G probably damaging Het
Dleu7 C T 14: 62,514,404 (GRCm39) V193M probably benign Het
Dmxl1 T A 18: 50,010,741 (GRCm39) probably benign Het
Dnah7b T A 1: 46,272,752 (GRCm39) F2293L probably damaging Het
Fras1 C A 5: 96,793,730 (GRCm39) C1017* probably null Het
Frmd3 A C 4: 74,054,109 (GRCm39) I173L probably benign Het
Fst T C 13: 114,592,390 (GRCm39) N109S possibly damaging Het
Greb1 A G 12: 16,756,233 (GRCm39) L801P probably damaging Het
Ift88 A G 14: 57,715,502 (GRCm39) D515G probably damaging Het
Kcnh7 T C 2: 62,569,706 (GRCm39) D730G probably damaging Het
Mbd1 A T 18: 74,408,453 (GRCm39) I231F probably damaging Het
Mre11a T A 9: 14,723,180 (GRCm39) F358I probably damaging Het
Mroh9 G T 1: 162,885,648 (GRCm39) T328K probably damaging Het
Nostrin T C 2: 69,014,262 (GRCm39) L406P probably benign Het
Ntrk3 T A 7: 78,112,679 (GRCm39) Q159L probably benign Het
Oca2 T C 7: 55,971,232 (GRCm39) probably benign Het
Or4k49 A T 2: 111,495,020 (GRCm39) T150S probably benign Het
Or51af1 T A 7: 103,141,695 (GRCm39) H130L probably benign Het
Or5p54 T C 7: 107,554,511 (GRCm39) I221T probably damaging Het
Pfdn4 C T 2: 170,357,695 (GRCm39) Q21* probably null Het
Pkd1l3 T C 8: 110,357,977 (GRCm39) F823S probably damaging Het
Rnf212 C T 5: 108,895,276 (GRCm39) probably benign Het
Sbspon T C 1: 15,929,150 (GRCm39) S214G probably benign Het
Slc12a7 T C 13: 73,945,822 (GRCm39) probably null Het
Ugt3a1 A T 15: 9,370,310 (GRCm39) M485L probably benign Het
Vav1 T C 17: 57,612,351 (GRCm39) V561A possibly damaging Het
Vldlr A G 19: 27,218,726 (GRCm39) T485A probably benign Het
Wiz T C 17: 32,586,834 (GRCm39) T159A probably benign Het
Other mutations in Fgf22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Fgf22 APN 10 79,592,724 (GRCm39) missense probably damaging 1.00
IGL01667:Fgf22 APN 10 79,592,588 (GRCm39) missense probably damaging 0.96
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 2015-04-16