Incidental Mutation 'R8278:Fgf6'
ID 638065
Institutional Source Beutler Lab
Gene Symbol Fgf6
Ensembl Gene ENSMUSG00000000183
Gene Name fibroblast growth factor 6
Synonyms Fgf-6
MMRRC Submission 067701-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8278 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 126992505-127001681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126992781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 78 (Y78F)
Ref Sequence ENSEMBL: ENSMUSP00000000187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000187]
AlphaFold P21658
Predicted Effect probably damaging
Transcript: ENSMUST00000000187
AA Change: Y78F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000187
Gene: ENSMUSG00000000183
AA Change: Y78F

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
FGF 82 208 9.54e-65 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
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. This gene displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations appear phenotypically normal, but exhibit a defect in skeletal muscle regeneration following injury. Mutant myoblasts show decreased migrational ability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,668,040 (GRCm39) Q477L probably benign Het
Adcy10 A T 1: 165,330,857 (GRCm39) D40V probably damaging Het
Cab39l T C 14: 59,776,562 (GRCm39) Y248H probably damaging Het
Casr G T 16: 36,336,011 (GRCm39) D99E probably damaging Het
Cdh16 T C 8: 105,345,107 (GRCm39) E364G probably benign Het
Cep104 C T 4: 154,068,122 (GRCm39) T189I possibly damaging Het
Cfap418 T A 4: 10,882,474 (GRCm39) probably null Het
Chd7 T A 4: 8,862,485 (GRCm39) probably null Het
Chit1 G A 1: 134,078,332 (GRCm39) R380Q probably benign Het
Cpne2 A G 8: 95,281,316 (GRCm39) K174R probably damaging Het
Dchs2 T A 3: 83,178,310 (GRCm39) I1121N probably damaging Het
H2-T10 A T 17: 36,429,832 (GRCm39) N320K probably benign Het
Heatr3 A T 8: 88,883,361 (GRCm39) N398I possibly damaging Het
Hrh4 T C 18: 13,140,284 (GRCm39) S60P probably damaging Het
Ikbip A G 10: 90,932,190 (GRCm39) H278R probably benign Het
Jmy A T 13: 93,601,224 (GRCm39) I394N probably damaging Het
Klhl8 T C 5: 104,022,107 (GRCm39) E314G probably benign Het
Lhx9 A T 1: 138,766,324 (GRCm39) C164S probably damaging Het
Loxl3 G T 6: 83,025,697 (GRCm39) G352C probably damaging Het
Lrrk1 A G 7: 65,928,432 (GRCm39) F1232S probably benign Het
Mpnd A G 17: 56,319,469 (GRCm39) T311A probably benign Het
Mpp7 A T 18: 7,444,025 (GRCm39) D132E probably benign Het
Nck2 T C 1: 43,593,740 (GRCm39) S316P probably damaging Het
Nckap5 T C 1: 125,955,509 (GRCm39) S348G probably damaging Het
Nyap1 C T 5: 137,730,077 (GRCm39) R790H probably damaging Het
Or5b124 C T 19: 13,610,958 (GRCm39) T161I possibly damaging Het
Pdcd11 G A 19: 47,094,736 (GRCm39) V507I probably damaging Het
Pdzd2 T C 15: 12,375,995 (GRCm39) H1380R probably benign Het
Pgap1 C T 1: 54,529,430 (GRCm39) V763I probably benign Het
Pnma8b G T 7: 16,680,263 (GRCm39) V416L probably damaging Het
Prkn A T 17: 12,269,609 (GRCm39) N421Y probably benign Het
Prpf4 T C 4: 62,333,493 (GRCm39) probably null Het
Psmb5 C T 14: 54,855,342 (GRCm39) G36D probably benign Het
Ptprq A G 10: 107,522,239 (GRCm39) S571P possibly damaging Het
Rap1gap A C 4: 137,444,748 (GRCm39) S254R probably damaging Het
Rufy2 A T 10: 62,843,472 (GRCm39) D492V probably benign Het
Ryr2 C A 13: 11,610,392 (GRCm39) E4145* probably null Het
Sgsm1 A G 5: 113,407,958 (GRCm39) F898L probably damaging Het
Slc26a9 C A 1: 131,689,514 (GRCm39) A487D possibly damaging Het
Slc6a15 T C 10: 103,229,890 (GRCm39) probably null Het
Smad9 A T 3: 54,696,687 (GRCm39) T251S probably benign Het
Socs3 A T 11: 117,858,478 (GRCm39) C193* probably null Het
Sox6 T A 7: 115,076,199 (GRCm39) D813V probably damaging Het
Taf2 A T 15: 54,929,361 (GRCm39) L65* probably null Het
Taf6 G A 5: 138,178,097 (GRCm39) A468V probably benign Het
Tmem71 T C 15: 66,426,961 (GRCm39) D78G probably damaging Het
Tob2 T C 15: 81,735,288 (GRCm39) N227S probably benign Het
Trim34a C A 7: 103,898,623 (GRCm39) Q180K probably damaging Het
Ugt1a9 T C 1: 87,999,378 (GRCm39) L276P possibly damaging Het
Wdr33 G A 18: 31,960,405 (GRCm39) R23Q possibly damaging Het
Wnt7b T G 15: 85,427,887 (GRCm39) N189H Het
Zfp609 G A 9: 65,604,804 (GRCm39) A1308V possibly damaging Het
Other mutations in Fgf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Fgf6 APN 6 127,001,048 (GRCm39) missense possibly damaging 0.90
IGL03290:Fgf6 APN 6 127,001,095 (GRCm39) missense probably damaging 1.00
R2111:Fgf6 UTSW 6 126,992,723 (GRCm39) missense probably damaging 0.99
R6113:Fgf6 UTSW 6 126,992,900 (GRCm39) splice site probably null
R9489:Fgf6 UTSW 6 126,992,814 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCAGGCTCTCGTCTTCTTAGG -3'
(R):5'- ACGTTACCCAGCACATCTTC -3'

Sequencing Primer
(F):5'- CTTAGGCGTCCTAGTGGGC -3'
(R):5'- AGCACATCTTCCCTTTAGAGTGCAG -3'
Posted On 2020-07-28