Incidental Mutation 'R4974:Fgf7'
ID 382463
Institutional Source Beutler Lab
Gene Symbol Fgf7
Ensembl Gene ENSMUSG00000027208
Gene Name fibroblast growth factor 7
Synonyms Kgf, Keratinocyte growth factor
MMRRC Submission 042569-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4974 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 125876578-125933105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125930160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 98 (M98L)
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: M98L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000069681
Gene: ENSMUSG00000027208
AA Change: M98L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
FGF 63 192 2.65e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110442
AA Change: M98L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106072
Gene: ENSMUSG00000027208
AA Change: M98L

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
Meta Mutation Damage Score 0.0707 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 97% (94/97)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik C T 14: 55,797,574 (GRCm39) probably benign Het
Acsf2 A C 11: 94,460,155 (GRCm39) M399R possibly damaging Het
Adra2c C A 5: 35,438,268 (GRCm39) R347S probably benign Het
Akap9 A G 5: 4,011,466 (GRCm39) K723R possibly damaging Het
Anxa9 A C 3: 95,215,324 (GRCm39) probably benign Het
Aqr T C 2: 113,943,832 (GRCm39) H1102R probably damaging Het
Armh3 A T 19: 45,808,726 (GRCm39) F655Y probably damaging Het
Arrdc2 A G 8: 71,290,162 (GRCm39) V173A probably benign Het
Aspm T C 1: 139,405,748 (GRCm39) V1545A probably benign Het
Bbs5 C T 2: 69,477,578 (GRCm39) probably benign Het
Bnip2 A G 9: 69,910,716 (GRCm39) T255A possibly damaging Het
Cacna1b T C 2: 24,538,535 (GRCm39) T1531A probably damaging Het
Cast T C 13: 74,955,942 (GRCm39) K9R probably benign Het
Cfap46 A T 7: 139,187,104 (GRCm39) probably null Het
Cfap57 G T 4: 118,450,251 (GRCm39) L624M probably damaging Het
Cyp2c39 A T 19: 39,552,323 (GRCm39) M339L probably benign Het
Dcst1 T A 3: 89,265,110 (GRCm39) T247S probably benign Het
Dnajc18 T A 18: 35,816,372 (GRCm39) I189F possibly damaging Het
Eef2kmt T C 16: 5,066,876 (GRCm39) T126A probably benign Het
Epha2 A G 4: 141,049,016 (GRCm39) E624G probably damaging Het
Erbb3 G A 10: 128,408,317 (GRCm39) H866Y probably benign Het
F13a1 C T 13: 37,100,837 (GRCm39) probably null Het
Fgd3 T A 13: 49,432,078 (GRCm39) N392I probably damaging Het
G2e3 T A 12: 51,415,922 (GRCm39) S553T probably benign Het
Glipr1 C A 10: 111,829,411 (GRCm39) E117* probably null Het
Gm11060 A T 2: 104,924,128 (GRCm39) probably benign Het
Gm4787 A G 12: 81,424,403 (GRCm39) I585T probably damaging Het
Gm6055 A T 14: 48,316,915 (GRCm39) noncoding transcript Het
Gpbar1 TACCAC TAC 1: 74,318,704 (GRCm39) probably benign Het
Gpt2 T A 8: 86,246,068 (GRCm39) probably benign Het
Gtf2ird1 A T 5: 134,386,685 (GRCm39) Y345* probably null Het
Hmcn1 T A 1: 150,695,200 (GRCm39) T235S probably benign Het
Igkv5-48 A G 6: 69,703,738 (GRCm39) Y56H possibly damaging Het
Il17re C T 6: 113,446,530 (GRCm39) T427I probably benign Het
Itpr3 A T 17: 27,302,582 (GRCm39) D80V probably damaging Het
Kif21a G T 15: 90,833,213 (GRCm39) H1317N probably benign Het
Kif28 T C 1: 179,526,209 (GRCm39) K144E probably damaging Het
Kif4-ps A C 12: 101,113,330 (GRCm39) noncoding transcript Het
Klk1b11 C T 7: 43,427,160 (GRCm39) T148I probably damaging Het
Klkb1 T A 8: 45,739,995 (GRCm39) H99L probably damaging Het
Kpna6 A C 4: 129,550,198 (GRCm39) probably null Het
Lama3 G T 18: 12,685,883 (GRCm39) K1132N probably damaging Het
Lcp1 T A 14: 75,445,911 (GRCm39) L264* probably null Het
Map2 T C 1: 66,452,664 (GRCm39) V360A probably benign Het
Med13 A T 11: 86,189,673 (GRCm39) S1079T probably damaging Het
Mettl13 A G 1: 162,364,789 (GRCm39) M162T probably damaging Het
Mppe1 T G 18: 67,361,133 (GRCm39) E208A probably benign Het
Msantd2 A C 9: 37,400,675 (GRCm39) K19T possibly damaging Het
Mylk3 A G 8: 86,091,412 (GRCm39) V131A probably damaging Het
Myocd A T 11: 65,074,299 (GRCm39) S609T possibly damaging Het
Ncbp3 G A 11: 72,944,355 (GRCm39) probably null Het
Neb T A 2: 52,136,871 (GRCm39) L3203F probably damaging Het
Notch2 C A 3: 98,046,949 (GRCm39) T1756K probably benign Het
Nphp4 A T 4: 152,622,250 (GRCm39) R544W probably damaging Het
Or3a1c A T 11: 74,046,745 (GRCm39) Y255F probably benign Het
Or4p18 T G 2: 88,232,756 (GRCm39) H174P probably damaging Het
Or5c1 A T 2: 37,222,578 (GRCm39) D273V probably damaging Het
Parp4 T A 14: 56,827,355 (GRCm39) V163E possibly damaging Het
Pcdhgb1 C A 18: 37,815,425 (GRCm39) Q639K probably benign Het
Pcnx2 A G 8: 126,577,869 (GRCm39) V936A probably benign Het
Pcsk7 T A 9: 45,830,160 (GRCm39) M418K probably damaging Het
Pglyrp4 T C 3: 90,640,314 (GRCm39) I188T probably benign Het
Pgs1 A G 11: 117,896,345 (GRCm39) R339G probably benign Het
Pik3r3 A G 4: 116,143,388 (GRCm39) I294V probably benign Het
Pik3r6 A G 11: 68,430,771 (GRCm39) D520G probably damaging Het
Pkdrej A G 15: 85,704,610 (GRCm39) V442A probably benign Het
Ppfibp1 T A 6: 146,931,917 (GRCm39) probably benign Het
Ppp3ca C A 3: 136,640,810 (GRCm39) Q454K possibly damaging Het
Ppp5c A T 7: 16,743,861 (GRCm39) M191K probably damaging Het
Prl4a1 A T 13: 28,207,308 (GRCm39) Y194F possibly damaging Het
Ptpn21 G T 12: 98,646,362 (GRCm39) T1032K probably damaging Het
Ptprh A T 7: 4,554,006 (GRCm39) probably null Het
Ptprm T A 17: 66,985,062 (GRCm39) R1447S probably benign Het
Pxk T A 14: 8,140,734 (GRCm38) D236E probably damaging Het
Qars1 T C 9: 108,386,130 (GRCm39) F107S probably damaging Het
Rbbp6 A G 7: 122,599,031 (GRCm39) probably benign Het
Rptor A T 11: 119,712,466 (GRCm39) probably benign Het
Rtn4 T A 11: 29,690,994 (GRCm39) M1095K probably damaging Het
Serpinb3b T A 1: 107,082,445 (GRCm39) H273L probably benign Het
Sgce G A 6: 4,689,630 (GRCm39) T401M probably benign Het
Slc12a6 C T 2: 112,188,870 (GRCm39) R1083W probably damaging Het
Slc45a4 A T 15: 73,456,299 (GRCm39) M635K probably damaging Het
Slc6a1 T A 6: 114,284,662 (GRCm39) V240D probably damaging Het
Snx9 G A 17: 5,952,794 (GRCm39) probably null Het
Spred3 A G 7: 28,867,249 (GRCm39) V49A probably damaging Het
Tars1 A G 15: 11,390,477 (GRCm39) F334S probably damaging Het
Tdpoz1 A G 3: 93,578,454 (GRCm39) V110A probably benign Het
Tfrc T G 16: 32,437,097 (GRCm39) V252G probably damaging Het
Tm6sf2 T C 8: 70,528,128 (GRCm39) probably benign Het
Txlnb T C 10: 17,714,717 (GRCm39) V383A probably damaging Het
Utp20 C A 10: 88,652,811 (GRCm39) V368L probably benign Het
Vmn2r12 A T 5: 109,239,372 (GRCm39) V397E probably damaging Het
Zdhhc12 G A 2: 29,981,538 (GRCm39) R175W probably damaging Het
Zfyve9 A G 4: 108,538,097 (GRCm39) probably null 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
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
R7293:Fgf7 UTSW 2 125,877,672 (GRCm39) missense probably damaging 1.00
R8129:Fgf7 UTSW 2 125,877,765 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GAGCAACATTGTTAGGTGTATCC -3'
(R):5'- GCACCGGTGGAATAAAACTAATTTC -3'

Sequencing Primer
(F):5'- ACCATTTAGCAGCTGTCAGG -3'
(R):5'- ACTAATTTCAGTTTTCAGAAAAGCAG -3'
Posted On 2016-04-27