Incidental Mutation 'R6320:Fgf22'
ID 510106
Institutional Source Beutler Lab
Gene Symbol Fgf22
Ensembl Gene ENSMUSG00000020327
Gene Name fibroblast growth factor 22
Synonyms 2210414E06Rik
MMRRC Submission 044475-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6320 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 79590887-79593629 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to G at 79592830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020577] [ENSMUST00000047203] [ENSMUST00000219228] [ENSMUST00000219981]
AlphaFold Q9ESS2
Predicted Effect unknown
Transcript: ENSMUST00000020577
AA Change: T196A
SMART Domains Protein: ENSMUSP00000020577
Gene: ENSMUSG00000020327
AA Change: T196A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1b G T 3: 20,369,943 (GRCm39) A221D probably benign Het
Aldh18a1 A T 19: 40,559,005 (GRCm39) D280E probably benign Het
Apob G A 12: 8,039,194 (GRCm39) D475N probably benign Het
Bmi1 C T 2: 18,689,186 (GRCm39) T290I probably benign Het
Brd8 A T 18: 34,746,292 (GRCm39) D139E possibly damaging Het
Cacna1e C A 1: 154,317,270 (GRCm39) V1467F possibly damaging Het
Cdh15 A G 8: 123,591,086 (GRCm39) D445G probably benign Het
Ceacam5 T A 7: 17,481,123 (GRCm39) L290H probably damaging Het
Celsr1 G T 15: 85,785,160 (GRCm39) Q3025K probably benign Het
Chi3l1 T A 1: 134,109,996 (GRCm39) M1K probably null Het
Crybg2 T C 4: 133,808,737 (GRCm39) S1404P probably damaging Het
Cubn C A 2: 13,285,006 (GRCm39) C3470F probably damaging Het
Cyp20a1 T C 1: 60,391,331 (GRCm39) probably null Het
Cyp24a1 G T 2: 170,328,704 (GRCm39) T408K probably benign Het
Cyp2a12 A T 7: 26,730,577 (GRCm39) I181F possibly damaging Het
Dnm1l A T 16: 16,149,952 (GRCm39) I268N probably damaging Het
Eif2a A G 3: 58,464,517 (GRCm39) probably null Het
Epg5 T C 18: 78,005,613 (GRCm39) F701S probably damaging Het
Fbxo46 T C 7: 18,870,466 (GRCm39) S362P possibly damaging Het
Fhod1 A C 8: 106,063,982 (GRCm39) probably benign Het
Flnc T A 6: 29,459,062 (GRCm39) V2448D probably damaging Het
Gm2696 G T 10: 77,671,972 (GRCm39) probably benign Het
Gmpr T C 13: 45,685,874 (GRCm39) S214P possibly damaging Het
Krt6a A G 15: 101,600,744 (GRCm39) V308A probably damaging Het
Lig3 T A 11: 82,684,833 (GRCm39) probably null Het
Lrrc37a T A 11: 103,394,877 (GRCm39) N183Y probably benign Het
Mapk8ip3 C A 17: 25,125,879 (GRCm39) G422V probably damaging Het
Mks1 T C 11: 87,746,325 (GRCm39) S97P probably benign Het
Mphosph9 A T 5: 124,463,024 (GRCm39) V7E probably damaging Het
Msh5 A G 17: 35,248,900 (GRCm39) L711P probably damaging Het
Naga T A 15: 82,216,404 (GRCm39) probably null Het
Nherf4 A G 9: 44,159,980 (GRCm39) V380A probably benign Het
Nlrp10 T A 7: 108,524,953 (GRCm39) T176S possibly damaging Het
Nqo1 T C 8: 108,115,582 (GRCm39) N232D probably benign Het
Or1j21 C G 2: 36,683,585 (GRCm39) N112K possibly damaging Het
Or2b6 T A 13: 21,823,418 (GRCm39) I92L probably damaging Het
P2ry6 A G 7: 100,587,603 (GRCm39) F252S probably damaging Het
P3h3 G A 6: 124,831,835 (GRCm39) R317W probably benign Het
Pakap T A 4: 57,710,173 (GRCm39) C373S probably damaging Het
Phkb T A 8: 86,602,327 (GRCm39) D39E probably benign Het
Psg16 G A 7: 16,822,112 (GRCm39) G23D probably damaging Het
Ptgr2 T A 12: 84,349,111 (GRCm39) I150K probably benign Het
Ptprf A G 4: 118,070,011 (GRCm39) V1457A probably benign Het
Sart3 A T 5: 113,889,301 (GRCm39) Y508N probably benign Het
Sh3bp1 C T 15: 78,795,715 (GRCm39) P615S probably damaging Het
Ska3 A T 14: 58,054,148 (GRCm39) N267K probably benign Het
Slc26a7 A G 4: 14,524,498 (GRCm39) I462T probably benign Het
Slu7 C T 11: 43,332,316 (GRCm39) A244V probably benign Het
Smarca4 C T 9: 21,548,671 (GRCm39) P319L probably damaging Het
Smg9 A G 7: 24,120,286 (GRCm39) D420G probably benign Het
Strc T A 2: 121,205,439 (GRCm39) D25V probably benign Het
Syne2 T G 12: 76,108,424 (GRCm39) V936G probably damaging Het
Tbc1d7 C T 13: 43,306,409 (GRCm39) probably benign Het
Terb1 C A 8: 105,173,831 (GRCm39) D751Y probably damaging Het
Trpc1 A G 9: 95,603,303 (GRCm39) Y410H probably damaging Het
Ush2a A G 1: 188,089,043 (GRCm39) N333D probably benign Het
Usp34 T C 11: 23,402,520 (GRCm39) S2438P probably damaging Het
Vps35l T C 7: 118,353,072 (GRCm39) V189A probably benign Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Zfp7 G A 15: 76,774,810 (GRCm39) G284D possibly damaging Het
Zfyve26 A G 12: 79,286,776 (GRCm39) S2271P probably damaging Het
Zscan18 G A 7: 12,509,147 (GRCm39) 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
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
R7363:Fgf22 UTSW 10 79,592,676 (GRCm39) missense probably benign
RF017:Fgf22 UTSW 10 79,592,680 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTACTCTGTGGACTGTAGGTTCC -3'
(R):5'- AACTGCCAGTTCTGTGTATCCC -3'

Sequencing Primer
(F):5'- ACTGTAGGTTCCGGGAGC -3'
(R):5'- TGTGTATCCCCCTGAGCG -3'
Posted On 2018-04-02