Incidental Mutation 'IGL00688:Fgf7'
ID 12620
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 # IGL00688
Quality Score
Status
Chromosome 2
Chromosomal Location 125876578-125933105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125931365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 157 (T157A)
Ref Sequence ENSEMBL: ENSMUSP00000106072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064794] [ENSMUST00000110442] [ENSMUST00000110446] [ENSMUST00000110448] [ENSMUST00000178118]
AlphaFold P36363
Predicted Effect probably damaging
Transcript: ENSMUST00000064794
AA Change: T157A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000069681
Gene: ENSMUSG00000027208
AA Change: T157A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
FGF 63 192 2.65e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110442
AA Change: T157A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106072
Gene: ENSMUSG00000027208
AA Change: T157A

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: 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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,451,443 (GRCm39) L216F probably benign Het
Atg13 A T 2: 91,516,842 (GRCm39) probably benign Het
Irak4 A G 15: 94,464,744 (GRCm39) H438R possibly damaging Het
Kansl1 T C 11: 104,315,892 (GRCm39) T49A probably damaging Het
Kcnh5 T C 12: 74,945,171 (GRCm39) K693E probably benign Het
Nfrkb T A 9: 31,300,345 (GRCm39) D45E probably damaging Het
Pramel28 G T 4: 143,692,392 (GRCm39) P203Q possibly damaging Het
Prlr T C 15: 10,322,467 (GRCm39) probably benign Het
Prpf40b A G 15: 99,214,012 (GRCm39) K789E probably benign Het
Reep5 A T 18: 34,482,746 (GRCm39) S154R probably benign Het
Setx T A 2: 29,038,457 (GRCm39) S1647R possibly damaging Het
Sptbn2 A G 19: 4,775,966 (GRCm39) E174G probably damaging Het
Taf1 A G X: 100,606,545 (GRCm39) E1248G probably damaging Het
Tanc1 T G 2: 59,645,735 (GRCm39) L929R probably damaging Het
Tanc2 A G 11: 105,689,516 (GRCm39) Y226C probably damaging Het
Tmem69 T C 4: 116,410,671 (GRCm39) I100V probably benign Het
Other mutations in Fgf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL01664:Fgf7 APN 2 125,877,907 (GRCm39) missense probably benign 0.01
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 2012-12-06