Incidental Mutation 'IGL01757:Fgf17'
ID 153223
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf17
Ensembl Gene ENSMUSG00000022101
Gene Name fibroblast growth factor 17
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.291) question?
Stock # IGL01757
Quality Score
Status
Chromosome 14
Chromosomal Location 70636203-70642268 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70636980 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 123 (L123Q)
Ref Sequence ENSEMBL: ENSMUSP00000154684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022695] [ENSMUST00000022697] [ENSMUST00000227123] [ENSMUST00000228295]
AlphaFold P63075
Predicted Effect probably benign
Transcript: ENSMUST00000022695
SMART Domains Protein: ENSMUSP00000022695
Gene: ENSMUSG00000022099

DomainStartEndE-ValueType
low complexity region 60 72 N/A INTRINSIC
low complexity region 88 99 N/A INTRINSIC
low complexity region 149 160 N/A INTRINSIC
coiled coil region 188 220 N/A INTRINSIC
low complexity region 252 267 N/A INTRINSIC
VHP 345 380 1.88e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000022697
AA Change: L134Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022697
Gene: ENSMUSG00000022101
AA Change: L134Q

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
FGF 51 178 1.66e-41 SMART
low complexity region 203 211 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000227123
AA Change: L123Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000228295
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family 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. This protein is expressed during embryogenesis and in the adult cerebellum and cortex and may be essential for vascular growth and normal brain development. Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene are grossly normal at birth and apparently healthy at birth. However, there are tissue losses in the inferior colliculus and the anterior vermis of the brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,990,281 probably benign Het
Adamts9 T C 6: 92,796,159 Y1789C probably damaging Het
Cdcp1 A T 9: 123,180,001 Y537* probably null Het
Chic2 T C 5: 75,006,767 probably benign Het
Cpa5 G A 6: 30,625,927 probably benign Het
Csgalnact2 T C 6: 118,129,346 R4G probably damaging Het
Dnah10 T A 5: 124,768,927 V1510D probably benign Het
Dnm2 T A 9: 21,465,619 F91L probably damaging Het
Eif2b1 T C 5: 124,573,140 K189E probably benign Het
Ifna15 T C 4: 88,558,085 K54R possibly damaging Het
Isg15 A G 4: 156,199,844 C76R probably damaging Het
Ldb2 A T 5: 44,541,867 probably benign Het
Lig4 A G 8: 9,971,185 I865T probably benign Het
Lrrc46 T C 11: 97,035,875 Y154C probably damaging Het
Lrrc8a G A 2: 30,255,525 R117H possibly damaging Het
Mrpl2 A G 17: 46,648,257 I96V probably damaging Het
Mtif2 G A 11: 29,541,337 probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Ptpn23 G A 9: 110,391,636 R269W probably damaging Het
Senp2 T C 16: 22,009,664 V8A probably benign Het
Slf1 T C 13: 77,084,440 D515G probably benign Het
Spc25 G A 2: 69,202,608 Q58* probably null Het
Sult2a5 T C 7: 13,665,154 S229P probably damaging Het
Tfap2d A G 1: 19,104,580 T86A probably benign Het
Trp53bp1 A G 2: 121,211,304 V1257A probably damaging Het
Wdr6 A G 9: 108,576,228 V152A possibly damaging Het
Zdhhc7 A G 8: 120,087,923 V49A probably benign Het
Zfp648 T C 1: 154,204,925 S277P probably damaging Het
Other mutations in Fgf17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02319:Fgf17 APN 14 70636743 missense possibly damaging 0.92
IGL02519:Fgf17 APN 14 70638528 missense probably damaging 0.99
IGL02563:Fgf17 APN 14 70636738 nonsense probably null
R0148:Fgf17 UTSW 14 70638873 missense probably damaging 1.00
R0487:Fgf17 UTSW 14 70638556 missense probably damaging 1.00
R1386:Fgf17 UTSW 14 70636770 missense probably damaging 0.96
R2130:Fgf17 UTSW 14 70638487 missense probably damaging 0.98
R2133:Fgf17 UTSW 14 70638487 missense probably damaging 0.98
R4033:Fgf17 UTSW 14 70641526 splice site probably benign
R4255:Fgf17 UTSW 14 70641722 critical splice donor site probably null
R5503:Fgf17 UTSW 14 70636968 missense probably damaging 1.00
R6924:Fgf17 UTSW 14 70641541 nonsense probably null
R9032:Fgf17 UTSW 14 70636996 missense probably damaging 1.00
R9085:Fgf17 UTSW 14 70636996 missense probably damaging 1.00
Posted On 2014-02-04