Incidental Mutation 'IGL01664:Fgf7'
ID 103255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf7
Ensembl Gene ENSMUSG00000027208
Gene Name fibroblast growth factor 7
Synonyms Kgf, Keratinocyte growth factor
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01664
Quality Score
Status
Chromosome 2
Chromosomal Location 125876578-125933105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 125877907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 91 (M91I)
Ref Sequence ENSEMBL: ENSMUSP00000106072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064794] [ENSMUST00000110442] [ENSMUST00000110446] [ENSMUST00000110448] [ENSMUST00000178118]
AlphaFold P36363
Predicted Effect probably benign
Transcript: ENSMUST00000064794
AA Change: M91I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000069681
Gene: ENSMUSG00000027208
AA Change: M91I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
FGF 63 192 2.65e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110442
AA Change: M91I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106072
Gene: ENSMUSG00000027208
AA Change: M91I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
FGF 63 192 2.65e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110446
SMART Domains Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
Pfam:FWWh 136 293 7.6e-54 PFAM
coiled coil region 427 478 N/A INTRINSIC
low complexity region 500 523 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110448
SMART Domains Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
Pfam:FWWh 136 293 3.8e-54 PFAM
coiled coil region 427 478 N/A INTRINSIC
low complexity region 500 523 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156413
Predicted Effect probably benign
Transcript: ENSMUST00000178118
SMART Domains Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
Pfam:FWWh 140 293 7.2e-50 PFAM
coiled coil region 427 478 N/A INTRINSIC
low complexity region 500 523 N/A INTRINSIC
Coding Region Coverage
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 protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal coat appearance, kidney dysplasia, spleen hypoplasia, abnormal synaptic vesicle clustering and miniature inhibitory postsynaptic currents, increased susceptibility to drug-induced seizures, and impaired thymic recovery after injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Col19a1 T A 1: 24,600,416 (GRCm39) Y42F unknown Het
Ddx31 T C 2: 28,765,847 (GRCm39) probably benign Het
Fbln2 G A 6: 91,210,439 (GRCm39) D128N probably damaging Het
Gm28539 A G 16: 18,655,523 (GRCm39) H31R possibly damaging Het
Hivep1 T G 13: 42,312,755 (GRCm39) V1665G probably benign Het
Ifih1 T C 2: 62,442,044 (GRCm39) probably benign Het
Il10 G T 1: 130,949,214 (GRCm39) R125L possibly damaging Het
Kalrn C T 16: 34,114,531 (GRCm39) R574H probably damaging Het
Lmln A G 16: 32,901,357 (GRCm39) E251G probably benign Het
Or4e5 T C 14: 52,728,002 (GRCm39) N57D probably benign Het
Or52n2c T C 7: 104,574,311 (GRCm39) Y220C probably damaging Het
Or56a3b T A 7: 104,771,423 (GRCm39) L253Q probably damaging Het
Otol1 A G 3: 69,935,130 (GRCm39) D374G probably benign Het
Pcdhb15 T C 18: 37,607,314 (GRCm39) V182A probably benign Het
Polr3e T C 7: 120,530,540 (GRCm39) probably benign Het
Sectm1a A T 11: 120,959,870 (GRCm39) S149T possibly damaging Het
Slfn10-ps A G 11: 82,926,761 (GRCm39) noncoding transcript Het
Sox1ot A G 8: 12,480,670 (GRCm39) noncoding transcript Het
Tnik G T 3: 28,692,628 (GRCm39) G895C probably damaging Het
Other mutations in Fgf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00688:Fgf7 APN 2 125,931,365 (GRCm39) missense probably damaging 0.98
IGL01121:Fgf7 APN 2 125,930,152 (GRCm39) intron probably benign
IGL01328:Fgf7 APN 2 125,930,164 (GRCm39) missense probably damaging 1.00
IGL01403:Fgf7 APN 2 125,877,860 (GRCm39) missense probably damaging 1.00
R0245:Fgf7 UTSW 2 125,877,875 (GRCm39) missense probably benign 0.05
R0652:Fgf7 UTSW 2 125,877,875 (GRCm39) missense probably benign 0.05
R1528:Fgf7 UTSW 2 125,877,738 (GRCm39) missense probably damaging 0.98
R4105:Fgf7 UTSW 2 125,877,599 (GRCm39) intron probably benign
R4776:Fgf7 UTSW 2 125,877,703 (GRCm39) nonsense probably null
R4974:Fgf7 UTSW 2 125,930,160 (GRCm39) missense probably benign 0.00
R7293:Fgf7 UTSW 2 125,877,672 (GRCm39) missense probably damaging 1.00
R8129:Fgf7 UTSW 2 125,877,765 (GRCm39) missense probably benign
Posted On 2014-01-21