Incidental Mutation 'R4255:Fgf17'
ID 321799
Institutional Source Beutler Lab
Gene Symbol Fgf17
Ensembl Gene ENSMUSG00000022101
Gene Name fibroblast growth factor 17
Synonyms
MMRRC Submission 041068-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R4255 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 70873643-70879708 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 70879162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022697] [ENSMUST00000022697] [ENSMUST00000227123] [ENSMUST00000227123]
AlphaFold P63075
Predicted Effect probably null
Transcript: ENSMUST00000022697
SMART Domains Protein: ENSMUSP00000022697
Gene: ENSMUSG00000022101

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 null
Transcript: ENSMUST00000022697
SMART Domains Protein: ENSMUSP00000022697
Gene: ENSMUSG00000022101

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 null
Transcript: ENSMUST00000227123
Predicted Effect probably null
Transcript: ENSMUST00000227123
Meta Mutation Damage Score 0.9496 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 93% (50/54)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,136,949 (GRCm39) I171V probably benign Het
Actc1 T C 2: 113,879,697 (GRCm39) N254S probably benign Het
Adgrg1 T G 8: 95,732,530 (GRCm39) probably null Het
Ankrd7 T A 6: 18,869,880 (GRCm39) probably null Het
Baz2b T C 2: 59,750,916 (GRCm39) probably benign Het
Brca2 A G 5: 150,464,634 (GRCm39) E1466G possibly damaging Het
Dagla G A 19: 10,234,316 (GRCm39) R332* probably null Het
Dnah5 T A 15: 28,438,248 (GRCm39) S3960T probably benign Het
Dnhd1 T A 7: 105,362,205 (GRCm39) L3689M probably damaging Het
Epn1 T A 7: 5,100,637 (GRCm39) L530Q probably damaging Het
Fgfr4 G A 13: 55,314,064 (GRCm39) V593M probably damaging Het
Fmo4 A G 1: 162,621,895 (GRCm39) C439R probably benign Het
Fndc3b T C 3: 27,555,556 (GRCm39) K333E possibly damaging Het
Gpc6 A G 14: 118,188,553 (GRCm39) T396A probably benign Het
Igkv3-2 T A 6: 70,676,045 (GRCm39) V118D probably benign Het
Mtbp C A 15: 55,484,081 (GRCm39) S470R possibly damaging Het
Myh8 A G 11: 67,190,560 (GRCm39) D1295G probably benign Het
Myo1h T C 5: 114,468,198 (GRCm39) I331T possibly damaging Het
Myo7a T G 7: 97,721,171 (GRCm39) M1265L probably damaging Het
Or13a18 C A 7: 140,190,500 (GRCm39) Y132* probably null Het
Or2ak7 A T 11: 58,574,791 (GRCm39) I31F probably damaging Het
Or2o1 G A 11: 49,051,262 (GRCm39) W140* probably null Het
Pak1ip1 A G 13: 41,164,632 (GRCm39) probably benign Het
Pcdha11 A G 18: 37,145,843 (GRCm39) T645A probably benign Het
Peg12 A G 7: 62,113,479 (GRCm39) I206T possibly damaging Het
Pkhd1 A G 1: 20,664,158 (GRCm39) V140A probably damaging Het
Pramel29 T A 4: 143,934,054 (GRCm39) D351V possibly damaging Het
Prrc2c C A 1: 162,533,895 (GRCm39) probably benign Het
Ptprk A G 10: 28,082,241 (GRCm39) E70G probably benign Het
Rabl6 C T 2: 25,474,791 (GRCm39) E640K possibly damaging Het
Rasd2 G A 8: 75,948,538 (GRCm39) E155K probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sdf4 A G 4: 156,085,214 (GRCm39) H183R probably benign Het
Slc12a9 C T 5: 137,319,694 (GRCm39) R607H probably damaging Het
Slc38a1 T C 15: 96,483,431 (GRCm39) D299G probably benign Het
Slc4a10 A G 2: 62,112,280 (GRCm39) N657S probably benign Het
Spata31d1c C G 13: 65,183,502 (GRCm39) S348* probably null Het
Spata31d1c T C 13: 65,183,531 (GRCm39) F358L probably benign Het
Srbd1 A T 17: 86,410,350 (GRCm39) S527R possibly damaging Het
Stag3 T C 5: 138,289,143 (GRCm39) V243A probably damaging Het
Tefm A T 11: 80,031,075 (GRCm39) S54T probably damaging Het
Terf1 T C 1: 15,875,903 (GRCm39) M1T probably null Het
Thsd7b G A 1: 129,688,024 (GRCm39) S645N possibly damaging Het
Trmt13 G T 3: 116,376,337 (GRCm39) S285* probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ush2a C T 1: 188,492,040 (GRCm39) R3110* probably null Het
Vnn3 T C 10: 23,741,720 (GRCm39) Y342H probably benign Het
Other mutations in Fgf17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01757:Fgf17 APN 14 70,874,420 (GRCm39) missense probably damaging 1.00
IGL02319:Fgf17 APN 14 70,874,183 (GRCm39) missense possibly damaging 0.92
IGL02519:Fgf17 APN 14 70,875,968 (GRCm39) missense probably damaging 0.99
IGL02563:Fgf17 APN 14 70,874,178 (GRCm39) nonsense probably null
R0148:Fgf17 UTSW 14 70,876,313 (GRCm39) missense probably damaging 1.00
R0487:Fgf17 UTSW 14 70,875,996 (GRCm39) missense probably damaging 1.00
R1386:Fgf17 UTSW 14 70,874,210 (GRCm39) missense probably damaging 0.96
R2130:Fgf17 UTSW 14 70,875,927 (GRCm39) missense probably damaging 0.98
R2133:Fgf17 UTSW 14 70,875,927 (GRCm39) missense probably damaging 0.98
R4033:Fgf17 UTSW 14 70,878,966 (GRCm39) splice site probably benign
R5503:Fgf17 UTSW 14 70,874,408 (GRCm39) missense probably damaging 1.00
R6924:Fgf17 UTSW 14 70,878,981 (GRCm39) nonsense probably null
R9032:Fgf17 UTSW 14 70,874,436 (GRCm39) missense probably damaging 1.00
R9085:Fgf17 UTSW 14 70,874,436 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGAGAATCAATAGCTGCAAGC -3'
(R):5'- GCACCTCAGTCTCTCAATTACG -3'

Sequencing Primer
(F):5'- CTGCAAGCACCTGTTTGGGAAG -3'
(R):5'- AGTCTCTCAATTACGCCTCCC -3'
Posted On 2015-06-20