Incidental Mutation 'IGL03196:Fgf1'
ID 412825
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf1
Ensembl Gene ENSMUSG00000036585
Gene Name fibroblast growth factor 1
Synonyms Fgf-1, fibroblast growth factor 1 (acidic), Fgfa
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03196
Quality Score
Status
Chromosome 18
Chromosomal Location 38971726-39062525 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 38975028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 140 (Y140*)
Ref Sequence ENSEMBL: ENSMUSP00000111245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040647] [ENSMUST00000115582] [ENSMUST00000117566] [ENSMUST00000131348] [ENSMUST00000148850]
AlphaFold P61148
Predicted Effect probably null
Transcript: ENSMUST00000040647
AA Change: Y140*
SMART Domains Protein: ENSMUSP00000045710
Gene: ENSMUSG00000036585
AA Change: Y140*

DomainStartEndE-ValueType
FGF 23 151 1.64e-63 SMART
Predicted Effect probably null
Transcript: ENSMUST00000115582
AA Change: Y140*
SMART Domains Protein: ENSMUSP00000111245
Gene: ENSMUSG00000036585
AA Change: Y140*

DomainStartEndE-ValueType
FGF 23 151 1.64e-63 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117566
SMART Domains Protein: ENSMUSP00000113292
Gene: ENSMUSG00000036585

DomainStartEndE-ValueType
Pfam:FGF 25 60 2.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131348
SMART Domains Protein: ENSMUSP00000123293
Gene: ENSMUSG00000036585

DomainStartEndE-ValueType
Pfam:FGF 25 63 9.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148850
SMART Domains Protein: ENSMUSP00000121894
Gene: ENSMUSG00000036452

DomainStartEndE-ValueType
coiled coil region 99 128 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 functions as a modifier of endothelial cell migration and proliferation, as well as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived cells in vitro, thus is thought to be involved in organogenesis. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, breed and develop normally, and exhibit normal brain structure and normal rates of wound healing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T C 6: 83,138,045 (GRCm39) V57A probably damaging Het
Adck1 T C 12: 88,397,885 (GRCm39) V173A probably damaging Het
Adgrv1 C A 13: 81,594,597 (GRCm39) R4139L probably benign Het
Aqp4 T G 18: 15,526,566 (GRCm39) D305A probably benign Het
Cadm1 T C 9: 47,710,675 (GRCm39) S193P possibly damaging Het
Ccdc88a T C 11: 29,432,340 (GRCm39) S377P possibly damaging Het
Clic5 C A 17: 44,552,960 (GRCm39) H71Q possibly damaging Het
Col20a1 G A 2: 180,649,671 (GRCm39) probably null Het
Col5a1 A G 2: 27,865,610 (GRCm39) D759G unknown Het
Cplane1 A T 15: 8,230,826 (GRCm39) K1034N probably damaging Het
Cpt1b A G 15: 89,308,598 (GRCm39) V110A probably benign Het
Cts8 C T 13: 61,401,272 (GRCm39) G85S probably benign Het
Cul5 T A 9: 53,537,180 (GRCm39) M551L probably damaging Het
Eno1b T A 18: 48,180,558 (GRCm39) D245E probably damaging Het
Flt1 A G 5: 147,551,937 (GRCm39) probably null Het
Fndc7 A G 3: 108,790,760 (GRCm39) Y89H probably damaging Het
Gm3127 A T 14: 15,432,259 (GRCm39) M254L probably benign Het
Gm5849 T C 3: 90,685,089 (GRCm39) E32G probably damaging Het
Gys1 T C 7: 45,104,241 (GRCm39) probably benign Het
H2ap A G X: 9,713,349 (GRCm39) Q27R possibly damaging Het
Hdgfl2 T C 17: 56,400,607 (GRCm39) V125A probably benign Het
Igkv6-32 C T 6: 70,051,042 (GRCm39) V105I probably benign Het
Lmo3 T C 6: 138,342,993 (GRCm39) T140A probably benign Het
Marf1 A G 16: 13,958,123 (GRCm39) V793A possibly damaging Het
Mep1b A C 18: 21,228,121 (GRCm39) I575L probably benign Het
Mtmr4 T A 11: 87,491,609 (GRCm39) I155N possibly damaging Het
Muc2 T C 7: 141,301,367 (GRCm39) F361L probably damaging Het
Ncoa7 T A 10: 30,523,510 (GRCm39) probably benign Het
Nme6 C T 9: 109,670,561 (GRCm39) R71W probably damaging Het
Or56b1b T C 7: 108,164,061 (GRCm39) S314G probably benign Het
Or9g4b G A 2: 85,616,365 (GRCm39) G170D possibly damaging Het
Or9m2 A T 2: 87,820,826 (GRCm39) I124F possibly damaging Het
Osbpl9 C T 4: 108,930,061 (GRCm39) V357I probably damaging Het
Ppp4r3a A G 12: 101,015,913 (GRCm39) probably benign Het
Rnf216 T C 5: 143,066,766 (GRCm39) R474G probably damaging Het
Rpp25l A G 4: 41,712,541 (GRCm39) V78A possibly damaging Het
Sh3bp2 C A 5: 34,714,687 (GRCm39) P245Q probably damaging Het
Slc33a1 A G 3: 63,871,151 (GRCm39) F154S possibly damaging Het
Wasf2 T A 4: 132,921,732 (GRCm39) S284T unknown Het
Wdtc1 T C 4: 133,022,648 (GRCm39) E566G probably damaging Het
Zcchc14 C T 8: 122,335,877 (GRCm39) probably benign Het
Other mutations in Fgf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1682:Fgf1 UTSW 18 38,974,985 (GRCm39) missense possibly damaging 0.95
R2207:Fgf1 UTSW 18 38,980,138 (GRCm39) missense possibly damaging 0.95
R3972:Fgf1 UTSW 18 38,980,147 (GRCm39) missense probably benign
R5128:Fgf1 UTSW 18 38,975,078 (GRCm39) missense probably benign 0.10
R5529:Fgf1 UTSW 18 38,991,657 (GRCm39) missense probably damaging 1.00
R6823:Fgf1 UTSW 18 38,980,161 (GRCm39) missense probably damaging 1.00
R7963:Fgf1 UTSW 18 38,980,167 (GRCm39) missense probably damaging 1.00
R8478:Fgf1 UTSW 18 38,987,944 (GRCm39) splice site probably null
X0063:Fgf1 UTSW 18 38,991,767 (GRCm39) start codon destroyed probably null 0.95
Posted On 2016-08-02