Incidental Mutation 'R8407:Fgf10'
ID 652493
Institutional Source Beutler Lab
Gene Symbol Fgf10
Ensembl Gene ENSMUSG00000021732
Gene Name fibroblast growth factor 10
Synonyms AEY17, FGF-10, Gsfaey17
MMRRC Submission 067814-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8407 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 118851199-118928651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118851938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 7 (T7A)
Ref Sequence ENSEMBL: ENSMUSP00000022246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022246]
AlphaFold O35565
Predicted Effect possibly damaging
Transcript: ENSMUST00000022246
AA Change: T7A

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022246
Gene: ENSMUSG00000021732
AA Change: T7A

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
low complexity region 52 63 N/A INTRINSIC
FGF 77 206 9.61e-70 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly T C 11: 100,384,897 (GRCm39) I629V possibly damaging Het
Ahnak C T 19: 8,993,037 (GRCm39) P4774S probably benign Het
Arhgef12 C T 9: 42,937,475 (GRCm39) probably null Het
BC048562 T A 9: 108,315,631 (GRCm39) S12R possibly damaging Het
Calhm2 G A 19: 47,098,755 (GRCm39) Q310* probably null Het
Celsr3 A G 9: 108,706,256 (GRCm39) E913G probably damaging Het
Cep68 T C 11: 20,190,446 (GRCm39) S189G possibly damaging Het
Cilp C A 9: 65,181,898 (GRCm39) P336T probably damaging Het
Cnot4 A G 6: 35,033,154 (GRCm39) S288P probably benign Het
Cst13 T C 2: 148,665,124 (GRCm39) S40P probably damaging Het
Cyp4f37 A T 17: 32,853,158 (GRCm39) D374V probably damaging Het
Ddit3 A G 10: 127,131,318 (GRCm39) T37A probably benign Het
Dnah2 T C 11: 69,350,104 (GRCm39) N2343S probably benign Het
Emp3 G A 7: 45,569,445 (GRCm39) P32L probably damaging Het
Esyt1 G T 10: 128,347,796 (GRCm39) L965M probably damaging Het
Fbxw28 T A 9: 109,155,269 (GRCm39) I406L probably benign Het
Frs3 A T 17: 48,009,552 (GRCm39) D11V probably damaging Het
Glmn A G 5: 107,718,057 (GRCm39) S287P probably benign Het
Glyctk C T 9: 106,033,141 (GRCm39) A291T probably benign Het
H2bc12 G T 13: 22,220,217 (GRCm39) G54V probably damaging Het
Ibtk A T 9: 85,603,119 (GRCm39) F629I possibly damaging Het
Kcnh8 C A 17: 53,212,101 (GRCm39) A633E probably damaging Het
Kif24 T C 4: 41,394,488 (GRCm39) N929S probably benign Het
Ldlrap1 T C 4: 134,484,736 (GRCm39) K86R probably damaging Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Lmod1 A G 1: 135,291,763 (GRCm39) K206R probably benign Het
Lmod1 C A 1: 135,292,734 (GRCm39) P530T possibly damaging Het
Lnp1 A T 16: 56,748,251 (GRCm39) S14T probably benign Het
Map3k6 T A 4: 132,974,904 (GRCm39) Y646N possibly damaging Het
Mapk14 G A 17: 28,963,983 (GRCm39) V290I probably benign Het
Mrpl22 C A 11: 58,066,156 (GRCm39) Y83* probably null Het
Myh6 T C 14: 55,201,388 (GRCm39) N104D probably benign Het
Nalcn T A 14: 123,554,683 (GRCm39) M903L probably damaging Het
Nfat5 C T 8: 108,094,047 (GRCm39) Q763* probably null Het
Or5w19 A C 2: 87,698,437 (GRCm39) Y34S probably damaging Het
Plin1 T C 7: 79,373,051 (GRCm39) D306G probably benign Het
Ppp1r12a T A 10: 108,076,042 (GRCm39) probably null Het
Prelid1 T A 13: 55,470,672 (GRCm39) H33Q probably damaging Het
Prkcz C T 4: 155,352,673 (GRCm39) A485T probably damaging Het
Ptch1 T C 13: 63,662,057 (GRCm39) E1169G probably null Het
Rps19 C A 7: 24,588,517 (GRCm39) T181K unknown Het
Skic2 G A 17: 35,060,103 (GRCm39) A889V probably benign Het
Slc22a3 A C 17: 12,640,368 (GRCm39) C538G probably benign Het
Slc2a10 T A 2: 165,356,787 (GRCm39) F149Y possibly damaging Het
Smarcal1 A G 1: 72,640,554 (GRCm39) I516M probably benign Het
Smarcc2 T A 10: 128,318,190 (GRCm39) W601R probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Srp68 A G 11: 116,143,589 (GRCm39) S369P probably benign Het
Tex2 C T 11: 106,459,221 (GRCm39) E70K probably damaging Het
Ticam2 A G 18: 46,693,590 (GRCm39) S166P probably damaging Het
Trpv5 A G 6: 41,652,272 (GRCm39) S138P probably benign Het
Ttll8 C T 15: 88,798,741 (GRCm39) V665I probably benign Het
Vmn2r81 T C 10: 79,104,028 (GRCm39) L217P possibly damaging Het
Zbtb4 T C 11: 69,669,101 (GRCm39) V608A probably benign Het
Zfp957 A G 14: 79,451,352 (GRCm39) V149A possibly damaging Het
Other mutations in Fgf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03400:Fgf10 APN 13 118,918,151 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- GCCGGTCCTTCCTAGAAGTTATG -3'
(R):5'- GACATCTCCTTGGAGGTGATTG -3'

Sequencing Primer
(F):5'- CCTAGAAGTTATGGATGTTGGTGCAC -3'
(R):5'- GTGATTGTAGCTCCGCACATGC -3'
Posted On 2020-10-20