Incidental Mutation 'IGL03400:Fgf10'
ID 421402
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf10
Ensembl Gene ENSMUSG00000021732
Gene Name fibroblast growth factor 10
Synonyms AEY17, FGF-10, Gsfaey17
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03400
Quality Score
Status
Chromosome 13
Chromosomal Location 118851199-118928651 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 118918151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022246]
AlphaFold O35565
Predicted Effect probably null
Transcript: ENSMUST00000022246
SMART Domains Protein: ENSMUSP00000022246
Gene: ENSMUSG00000021732

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
low complexity region 52 63 N/A INTRINSIC
FGF 77 206 9.61e-70 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146674
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 exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants die at birth with multiple abnormalities including absence of lungs, severely truncated limbs, open eyelids, incomplete external genitalia, arrested pancreatic development, lack of mammary glands and impaired epidermal development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Bmp3 T C 5: 99,019,957 (GRCm39) S127P probably damaging Het
Cemip A G 7: 83,607,724 (GRCm39) S761P probably damaging Het
Cenatac A G 9: 44,324,486 (GRCm39) V185A probably benign Het
Ces3b A G 8: 105,819,568 (GRCm39) T495A probably damaging Het
Cops3 A T 11: 59,708,914 (GRCm39) D413E probably benign Het
Cyp4f16 A G 17: 32,769,327 (GRCm39) I406V probably benign Het
Efcab6 A T 15: 83,751,246 (GRCm39) probably benign Het
Emsy A G 7: 98,251,933 (GRCm39) V703A possibly damaging Het
Fancb T C X: 163,778,587 (GRCm39) S587P possibly damaging Het
Farp1 A G 14: 121,444,733 (GRCm39) Y80C probably damaging Het
Fgf13 A G X: 58,171,248 (GRCm39) probably benign Het
Filip1 T C 9: 79,727,755 (GRCm39) K288R probably benign Het
L3mbtl3 T C 10: 26,191,424 (GRCm39) N458S unknown Het
Nek11 C T 9: 105,082,065 (GRCm39) A513T probably benign Het
Or10a3m A C 7: 108,312,733 (GRCm39) I46L probably benign Het
Or11q2 T A X: 48,772,781 (GRCm39) L134Q probably damaging Het
Or2ah1 T C 2: 85,654,094 (GRCm39) Y260H probably damaging Het
Palld G T 8: 61,966,489 (GRCm39) A630E probably damaging Het
Pdk1 T C 2: 71,726,091 (GRCm39) M333T probably benign Het
Rab9 T C X: 165,240,744 (GRCm39) N189S probably benign Het
Shtn1 C T 19: 59,020,690 (GRCm39) probably benign Het
Sntg1 T C 1: 8,533,638 (GRCm39) I339V probably damaging Het
Spns3 A G 11: 72,390,501 (GRCm39) V418A possibly damaging Het
St14 T A 9: 31,008,267 (GRCm39) probably benign Het
Tedc2 T C 17: 24,438,777 (GRCm39) D180G probably benign Het
Trim33 T C 3: 103,236,459 (GRCm39) I523T probably damaging Het
Ttn T A 2: 76,551,208 (GRCm39) M23068L probably benign Het
Ttn T C 2: 76,579,266 (GRCm39) M15549V probably damaging Het
Tubgcp6 A G 15: 88,992,302 (GRCm39) probably benign Het
Ube3c A G 5: 29,806,345 (GRCm39) Y329C probably benign Het
Zmym4 G T 4: 126,816,920 (GRCm39) D259E probably benign Het
Other mutations in Fgf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB003:Fgf10 UTSW 13 118,925,752 (GRCm39) missense probably damaging 1.00
BB013:Fgf10 UTSW 13 118,925,752 (GRCm39) missense probably damaging 1.00
R0487:Fgf10 UTSW 13 118,918,147 (GRCm39) critical splice donor site probably null
R0789:Fgf10 UTSW 13 118,925,741 (GRCm39) missense probably benign
R1876:Fgf10 UTSW 13 118,925,695 (GRCm39) missense probably damaging 1.00
R1939:Fgf10 UTSW 13 118,925,688 (GRCm39) missense probably damaging 1.00
R2032:Fgf10 UTSW 13 118,852,131 (GRCm39) missense probably damaging 1.00
R3768:Fgf10 UTSW 13 118,918,083 (GRCm39) missense probably damaging 1.00
R3769:Fgf10 UTSW 13 118,918,083 (GRCm39) missense probably damaging 1.00
R4756:Fgf10 UTSW 13 118,918,045 (GRCm39) missense probably benign 0.03
R5992:Fgf10 UTSW 13 118,852,044 (GRCm39) missense probably benign 0.00
R6289:Fgf10 UTSW 13 118,852,028 (GRCm39) missense probably benign 0.01
R6301:Fgf10 UTSW 13 118,852,047 (GRCm39) missense probably benign 0.02
R6755:Fgf10 UTSW 13 118,925,821 (GRCm39) missense probably damaging 1.00
R7174:Fgf10 UTSW 13 118,851,942 (GRCm39) missense probably benign 0.39
R7189:Fgf10 UTSW 13 118,925,659 (GRCm39) missense probably benign 0.02
R7926:Fgf10 UTSW 13 118,925,752 (GRCm39) missense probably damaging 1.00
R8407:Fgf10 UTSW 13 118,851,938 (GRCm39) missense possibly damaging 0.93
R8557:Fgf10 UTSW 13 118,918,132 (GRCm39) missense probably benign 0.00
R8831:Fgf10 UTSW 13 118,925,671 (GRCm39) missense probably damaging 1.00
X0024:Fgf10 UTSW 13 118,852,080 (GRCm39) missense probably benign
Posted On 2016-08-02