Incidental Mutation 'IGL01718:Fgf23'
ID 105002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf23
Ensembl Gene ENSMUSG00000000182
Gene Name fibroblast growth factor 23
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01718
Quality Score
Status
Chromosome 6
Chromosomal Location 127049865-127058371 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127057436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 251 (V251I)
Ref Sequence ENSEMBL: ENSMUSP00000000186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000186] [ENSMUST00000039913]
AlphaFold Q9EPC2
Predicted Effect probably benign
Transcript: ENSMUST00000000186
AA Change: V251I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000186
Gene: ENSMUSG00000000182
AA Change: V251I

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
FGF 36 161 5.41e-14 SMART
low complexity region 228 243 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000039913
SMART Domains Protein: ENSMUSP00000048643
Gene: ENSMUSG00000038028

DomainStartEndE-ValueType
PGAM 5 205 8.71e-20 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the fibroblast growth factor family. The encoded protein regulates phosphate homeostasis and vitamin D metabolism. Mutation of the related gene in humans causes autosomal dominant hypophosphatemic rickets (ADHR). The secreted protein is further cleaved into N- and C-terminal chains, which results in loss of function. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous mutant mice are severely growth retarded and die prematurely. They exhibit hypophosphatemia, abnormal vitamin D metabolism, renal defects, skeletal defects, and are infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a3 A G 7: 66,049,953 (GRCm39) F422L possibly damaging Het
Ap2m1 T C 16: 20,360,944 (GRCm39) probably benign Het
Asic1 A G 15: 99,569,883 (GRCm39) Y68C probably damaging Het
Ccdc18 A G 5: 108,349,214 (GRCm39) D1002G possibly damaging Het
Cyp2c29 A T 19: 39,318,704 (GRCm39) I434F possibly damaging Het
Diaph3 T A 14: 86,893,774 (GRCm39) R78S unknown Het
Dnase1l2 T C 17: 24,660,690 (GRCm39) D188G possibly damaging Het
Exosc9 T C 3: 36,608,078 (GRCm39) probably benign Het
Fndc3c1 T C X: 105,489,534 (GRCm39) T296A probably benign Het
Gm5592 A G 7: 40,938,617 (GRCm39) E633G probably damaging Het
Gpr155 T C 2: 73,212,576 (GRCm39) M16V probably benign Het
Jakmip3 T G 7: 138,591,121 (GRCm39) S2A possibly damaging Het
Lrba T A 3: 86,258,555 (GRCm39) N1347K probably damaging Het
Mars1 T C 10: 127,141,707 (GRCm39) R266G possibly damaging Het
Mplkipl1 A G 19: 61,164,199 (GRCm39) S79P probably damaging Het
Mrgpra1 A T 7: 46,985,675 (GRCm39) probably null Het
Or7g20 T A 9: 18,946,584 (GRCm39) L55* probably null Het
Pdzk1ip1 T A 4: 114,950,111 (GRCm39) probably benign Het
Ppid G T 3: 79,500,986 (GRCm39) C52F probably damaging Het
Reln A G 5: 22,152,512 (GRCm39) I2318T possibly damaging Het
Rhpn2 G A 7: 35,070,179 (GRCm39) D146N probably benign Het
Tspoap1 G T 11: 87,671,081 (GRCm39) R1670L possibly damaging Het
Ttc22 G A 4: 106,495,773 (GRCm39) V376M probably damaging Het
Ttn T A 2: 76,560,746 (GRCm39) L29218F probably damaging Het
Ttn A T 2: 76,560,748 (GRCm39) L29218I probably damaging Het
Zfp609 G A 9: 65,609,682 (GRCm39) Q1094* probably null Het
Zfp831 C T 2: 174,485,631 (GRCm39) T102I possibly damaging Het
Zglp1 C T 9: 20,974,675 (GRCm39) C171Y probably benign Het
Other mutations in Fgf23
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0137:Fgf23 UTSW 6 127,057,128 (GRCm39) missense probably damaging 1.00
R0482:Fgf23 UTSW 6 127,050,122 (GRCm39) missense probably damaging 1.00
R1848:Fgf23 UTSW 6 127,050,156 (GRCm39) missense probably damaging 1.00
R6113:Fgf23 UTSW 6 127,055,117 (GRCm39) missense probably benign 0.00
R6875:Fgf23 UTSW 6 127,050,179 (GRCm39) missense probably damaging 1.00
R7798:Fgf23 UTSW 6 127,050,177 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21