Incidental Mutation 'R5992:Fgf10'
ID 480909
Institutional Source Beutler Lab
Gene Symbol Fgf10
Ensembl Gene ENSMUSG00000021732
Gene Name fibroblast growth factor 10
Synonyms Gsfaey17, AEY17, FGF-10
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5992 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 118669791-118792115 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118715508 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 42 (D42V)
Ref Sequence ENSEMBL: ENSMUSP00000022246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022246]
AlphaFold O35565
Predicted Effect probably benign
Transcript: ENSMUST00000022246
AA Change: D42V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022246
Gene: ENSMUSG00000021732
AA Change: D42V

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: ENSMUST00000144680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146674
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,508,623 (GRCm38) L188* probably null Het
Acod1 C T 14: 103,055,035 (GRCm38) R332C probably damaging Het
Adamts3 T A 5: 89,691,335 (GRCm38) K852M probably damaging Het
Adm A T 7: 110,627,696 (GRCm38) probably benign Het
Aff4 A G 11: 53,373,010 (GRCm38) S286G probably damaging Het
Ank2 A G 3: 126,959,651 (GRCm38) probably null Het
Aqr A T 2: 114,143,049 (GRCm38) Y427* probably null Het
Arid1b C A 17: 4,994,956 (GRCm38) probably benign Het
Arpp21 T A 9: 112,143,485 (GRCm38) R259* probably null Het
Cep290 C T 10: 100,543,321 (GRCm38) A55V possibly damaging Het
Chsy3 GT G 18: 59,176,166 (GRCm38) 163 probably null Het
Clcn2 T C 16: 20,713,654 (GRCm38) E68G possibly damaging Het
Corin T A 5: 72,316,389 (GRCm38) H699L probably benign Het
Cyld T C 8: 88,733,053 (GRCm38) Y446H probably damaging Het
Dcst1 T A 3: 89,352,576 (GRCm38) E613V probably damaging Het
Dlk1 T C 12: 109,455,581 (GRCm38) C74R probably damaging Het
Dnah12 A C 14: 26,697,341 (GRCm38) K128T probably benign Het
Dspp T A 5: 104,178,451 (GRCm38) S893R unknown Het
Dtl A T 1: 191,568,572 (GRCm38) probably null Het
F2rl1 T A 13: 95,514,270 (GRCm38) S35C probably benign Het
Fcgbp A T 7: 28,120,534 (GRCm38) Y2562F probably benign Het
Gm10271 A T 10: 116,972,592 (GRCm38) F6L probably damaging Het
Gm21190 T A 5: 15,524,851 (GRCm38) E256D probably damaging Het
Gm5157 A G 7: 21,185,421 (GRCm38) S66P probably damaging Het
Gm884 A T 11: 103,613,792 (GRCm38) M2450K possibly damaging Het
Hal T G 10: 93,490,916 (GRCm38) L138R probably damaging Het
Hsd17b3 T C 13: 64,059,470 (GRCm38) probably null Het
Lrsam1 T C 2: 32,955,222 (GRCm38) T94A probably benign Het
Macc1 T C 12: 119,447,585 (GRCm38) V696A probably damaging Het
Magi2 G A 5: 19,227,291 (GRCm38) M1I probably null Het
March7 C A 2: 60,245,220 (GRCm38) N674K probably benign Het
Mfap1b A G 2: 121,470,295 (GRCm38) V34A probably benign Het
Mob3b G A 4: 35,084,069 (GRCm38) S40L probably benign Het
Ndufs2 A T 1: 171,236,418 (GRCm38) V386E probably damaging Het
Nfic C T 10: 81,420,747 (GRCm38) A19T probably damaging Het
Nfs1 G A 2: 156,134,453 (GRCm38) R174W probably damaging Het
Nin G T 12: 70,045,524 (GRCm38) S670R possibly damaging Het
Nrxn1 T C 17: 90,623,507 (GRCm38) I754V probably benign Het
Nwd1 T C 8: 72,653,573 (GRCm38) probably null Het
Olfr1231 T A 2: 89,303,359 (GRCm38) T78S possibly damaging Het
Olfr1238 T A 2: 89,406,879 (GRCm38) M67L probably benign Het
Olfr575 G T 7: 102,955,009 (GRCm38) N197K probably benign Het
Pcdhgb8 A G 18: 37,763,449 (GRCm38) E524G probably damaging Het
Phlpp1 A T 1: 106,318,993 (GRCm38) R638* probably null Het
Pkmyt1 G C 17: 23,735,326 (GRCm38) W360S probably benign Het
Plxnd1 C A 6: 115,967,787 (GRCm38) probably null Het
Poldip3 A T 15: 83,129,229 (GRCm38) N322K probably damaging Het
Prmt3 A T 7: 49,828,947 (GRCm38) I419L probably benign Het
Prss36 A T 7: 127,944,830 (GRCm38) V123E probably damaging Het
Prss58 A G 6: 40,897,769 (GRCm38) I46T probably damaging Het
Rac1 T C 5: 143,506,998 (GRCm38) probably benign Het
Rb1cc1 A G 1: 6,233,996 (GRCm38) Y36C probably damaging Het
Rif1 C G 2: 52,095,844 (GRCm38) L614V probably damaging Het
Rnd2 C T 11: 101,468,999 (GRCm38) L57F probably damaging Het
Rp1 A T 1: 4,148,703 (GRCm38) F951L unknown Het
Rps6ka5 G T 12: 100,575,250 (GRCm38) P417T possibly damaging Het
Ryr1 A G 7: 29,067,637 (GRCm38) W2967R probably damaging Het
Sacs T A 14: 61,205,543 (GRCm38) S1679R probably damaging Het
Scn1a A C 2: 66,335,456 (GRCm38) W153G probably damaging Het
Serpinb7 A G 1: 107,445,996 (GRCm38) Y114C probably damaging Het
Son T C 16: 91,658,904 (GRCm38) M1513T probably benign Het
Spag8 C T 4: 43,651,534 (GRCm38) V447M probably benign Het
St3gal2 T A 8: 110,969,553 (GRCm38) Y257N probably damaging Het
Tars A T 15: 11,397,196 (GRCm38) D40E probably damaging Het
Tlr3 T C 8: 45,397,814 (GRCm38) H158R probably benign Het
Tppp2 G T 14: 51,918,935 (GRCm38) V50L probably benign Het
Trrap T C 5: 144,810,184 (GRCm38) S1503P probably benign Het
Ttll4 T G 1: 74,685,391 (GRCm38) S573R probably damaging Het
Vmn2r104 A T 17: 20,029,485 (GRCm38) N841K probably damaging Het
Vmn2r3 A T 3: 64,259,647 (GRCm38) C688S probably damaging Het
Vps16 T C 2: 130,424,449 (GRCm38) probably null Het
Zfp608 G A 18: 54,899,248 (GRCm38) T540I probably benign Het
Zfp775 G A 6: 48,619,816 (GRCm38) R208Q probably damaging Het
Other mutations in Fgf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03400:Fgf10 APN 13 118,781,615 (GRCm38) splice site probably null
BB003:Fgf10 UTSW 13 118,789,216 (GRCm38) missense probably damaging 1.00
BB013:Fgf10 UTSW 13 118,789,216 (GRCm38) missense probably damaging 1.00
R0487:Fgf10 UTSW 13 118,781,611 (GRCm38) critical splice donor site probably null
R0789:Fgf10 UTSW 13 118,789,205 (GRCm38) missense probably benign
R1876:Fgf10 UTSW 13 118,789,159 (GRCm38) missense probably damaging 1.00
R1939:Fgf10 UTSW 13 118,789,152 (GRCm38) missense probably damaging 1.00
R2032:Fgf10 UTSW 13 118,715,595 (GRCm38) missense probably damaging 1.00
R3768:Fgf10 UTSW 13 118,781,547 (GRCm38) missense probably damaging 1.00
R3769:Fgf10 UTSW 13 118,781,547 (GRCm38) missense probably damaging 1.00
R4756:Fgf10 UTSW 13 118,781,509 (GRCm38) missense probably benign 0.03
R6289:Fgf10 UTSW 13 118,715,492 (GRCm38) missense probably benign 0.01
R6301:Fgf10 UTSW 13 118,715,511 (GRCm38) missense probably benign 0.02
R6755:Fgf10 UTSW 13 118,789,285 (GRCm38) missense probably damaging 1.00
R7174:Fgf10 UTSW 13 118,715,406 (GRCm38) missense probably benign 0.39
R7189:Fgf10 UTSW 13 118,789,123 (GRCm38) missense probably benign 0.02
R7926:Fgf10 UTSW 13 118,789,216 (GRCm38) missense probably damaging 1.00
R8407:Fgf10 UTSW 13 118,715,402 (GRCm38) missense possibly damaging 0.93
R8557:Fgf10 UTSW 13 118,781,596 (GRCm38) missense probably benign 0.00
R8831:Fgf10 UTSW 13 118,789,135 (GRCm38) missense probably damaging 1.00
X0024:Fgf10 UTSW 13 118,715,544 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-06-26