Incidental Mutation 'R4033:Fgf17'
ID 313603
Institutional Source Beutler Lab
Gene Symbol Fgf17
Ensembl Gene ENSMUSG00000022101
Gene Name fibroblast growth factor 17
Synonyms
MMRRC Submission 040961-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R4033 (G1)
Quality Score 180
Status Validated
Chromosome 14
Chromosomal Location 70873643-70879708 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 70878966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022697] [ENSMUST00000227123]
AlphaFold P63075
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000227123
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (47/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l C G 8: 44,079,710 (GRCm39) M171I probably benign Het
Als2 G T 1: 59,235,400 (GRCm39) S761R probably benign Het
Ankrd63 C A 2: 118,533,412 (GRCm39) probably benign Het
Brf1 G A 12: 112,943,352 (GRCm39) T166M probably damaging Het
Car9 T C 4: 43,508,624 (GRCm39) V131A possibly damaging Het
Cerk T G 15: 86,039,228 (GRCm39) H221P possibly damaging Het
Cfap69 A T 5: 5,654,389 (GRCm39) I458N possibly damaging Het
Chil4 T C 3: 106,121,765 (GRCm39) Y28C probably damaging Het
Cracd A G 5: 77,006,312 (GRCm39) N891S unknown Het
Dmxl1 A G 18: 49,984,498 (GRCm39) T165A possibly damaging Het
Erich6b A T 14: 75,896,207 (GRCm39) N31I probably benign Het
Fhit A T 14: 10,751,671 (GRCm38) probably benign Het
Fnip1 A T 11: 54,393,297 (GRCm39) I578L probably benign Het
Gm17641 C T 3: 68,777,146 (GRCm39) R36W probably damaging Het
Gprin2 A T 14: 33,916,635 (GRCm39) D378E probably benign Het
Grhl3 T A 4: 135,300,735 (GRCm39) M1L probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Ifih1 G A 2: 62,465,534 (GRCm39) S212L probably benign Het
Iqck T C 7: 118,540,827 (GRCm39) I242T probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Lsm14b A G 2: 179,673,309 (GRCm39) K195E probably benign Het
Mical1 G A 10: 41,357,172 (GRCm39) V326I probably benign Het
Mtnr1b A T 9: 15,774,830 (GRCm39) N76K probably damaging Het
Nalcn T C 14: 123,837,401 (GRCm39) probably benign Het
Nop14 T C 5: 34,807,861 (GRCm39) D367G probably benign Het
Nrxn3 T C 12: 89,499,771 (GRCm39) C721R probably damaging Het
Or51e1 C T 7: 102,358,697 (GRCm39) T77I probably damaging Het
Prr27 G T 5: 87,991,164 (GRCm39) E259* probably null Het
Psmg3 G A 5: 139,812,086 (GRCm39) P5S probably damaging Het
Pxdn A G 12: 30,053,224 (GRCm39) T1134A probably benign Het
Rbm28 T C 6: 29,159,668 (GRCm39) N120S probably damaging Het
Reg3b A T 6: 78,350,192 (GRCm39) K157N possibly damaging Het
Rlf T G 4: 121,004,540 (GRCm39) Q1480P probably damaging Het
Slc16a12 A T 19: 34,652,567 (GRCm39) L193Q probably damaging Het
Smo G A 6: 29,759,917 (GRCm39) R672H probably damaging Het
Smyd4 A G 11: 75,240,580 (GRCm39) D25G probably benign Het
Sorbs2 C G 8: 46,228,632 (GRCm39) D264E probably damaging Het
Tctn3 G T 19: 40,585,767 (GRCm39) Q593K probably benign Het
Tdrd9 A T 12: 111,958,973 (GRCm39) I136L possibly damaging Het
Tshz3 G A 7: 36,470,009 (GRCm39) S666N possibly damaging Het
Ubn1 C T 16: 4,882,475 (GRCm39) T69M probably damaging Het
Unk A T 11: 115,944,353 (GRCm39) H368L probably benign Het
Zan A T 5: 137,436,122 (GRCm39) L2051* probably null 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
R4255:Fgf17 UTSW 14 70,879,162 (GRCm39) critical splice donor site probably null
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'- CCCAGGAGTGTTGTTAGAAAGG -3'
(R):5'- AACCTTACCCTGTAAGTGTGC -3'

Sequencing Primer
(F):5'- CAGGAGTGTTGTTAGAAAGGTTTGAG -3'
(R):5'- ACCCTGTAAGTGTGCTGCCTG -3'
Posted On 2015-04-30