Incidental Mutation 'IGL03196:Fgf1'
ID412825
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf1
Ensembl Gene ENSMUSG00000036585
Gene Namefibroblast growth factor 1
SynonymsFgfa, fibroblast growth factor 1 (acidic), Fgf-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03196
Quality Score
Status
Chromosome18
Chromosomal Location38838673-38929404 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 38841975 bp
ZygosityHeterozygous
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]
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: 83,161,063 V57A probably damaging Het
2410089E03Rik A T 15: 8,201,342 K1034N probably damaging Het
Adck1 T C 12: 88,431,115 V173A probably damaging Het
Adgrv1 C A 13: 81,446,478 R4139L probably benign Het
Aqp4 T G 18: 15,393,509 D305A probably benign Het
Cadm1 T C 9: 47,799,377 S193P possibly damaging Het
Ccdc88a T C 11: 29,482,340 S377P possibly damaging Het
Clic5 C A 17: 44,242,073 H71Q possibly damaging Het
Col20a1 G A 2: 181,007,878 probably null Het
Col5a1 A G 2: 27,975,598 D759G unknown Het
Cpt1b A G 15: 89,424,395 V110A probably benign Het
Cts8 C T 13: 61,253,458 G85S probably benign Het
Cul5 T A 9: 53,625,880 M551L probably damaging Het
Eno1b T A 18: 48,047,491 D245E probably damaging Het
Flt1 A G 5: 147,615,127 probably null Het
Fndc7 A G 3: 108,883,444 Y89H probably damaging Het
Gm3127 A T 14: 4,172,510 M254L probably benign Het
Gm5849 T C 3: 90,777,782 E32G probably damaging Het
Gys1 T C 7: 45,454,817 probably benign Het
Hdgfl2 T C 17: 56,093,607 V125A probably benign Het
Hypm A G X: 9,847,110 Q27R possibly damaging Het
Igkv6-32 C T 6: 70,074,058 V105I probably benign Het
Lmo3 T C 6: 138,365,995 T140A probably benign Het
Marf1 A G 16: 14,140,259 V793A possibly damaging Het
Mep1b A C 18: 21,095,064 I575L probably benign Het
Mtmr4 T A 11: 87,600,783 I155N possibly damaging Het
Muc2 T C 7: 141,747,630 F361L probably damaging Het
Ncoa7 T A 10: 30,647,514 probably benign Het
Nme6 C T 9: 109,841,493 R71W probably damaging Het
Olfr1015 G A 2: 85,786,021 G170D possibly damaging Het
Olfr1158 A T 2: 87,990,482 I124F possibly damaging Het
Olfr504 T C 7: 108,564,854 S314G probably benign Het
Osbpl9 C T 4: 109,072,864 V357I probably damaging Het
Ppp4r3a A G 12: 101,049,654 probably benign Het
Rnf216 T C 5: 143,081,011 R474G probably damaging Het
Rpp25l A G 4: 41,712,541 V78A possibly damaging Het
Sh3bp2 C A 5: 34,557,343 P245Q probably damaging Het
Slc33a1 A G 3: 63,963,730 F154S possibly damaging Het
Wasf2 T A 4: 133,194,421 S284T unknown Het
Wdtc1 T C 4: 133,295,337 E566G probably damaging Het
Zcchc14 C T 8: 121,609,138 probably benign Het
Other mutations in Fgf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1682:Fgf1 UTSW 18 38841932 missense possibly damaging 0.95
R2207:Fgf1 UTSW 18 38847085 missense possibly damaging 0.95
R3972:Fgf1 UTSW 18 38847094 missense probably benign
R5128:Fgf1 UTSW 18 38842025 missense probably benign 0.10
R5529:Fgf1 UTSW 18 38858604 missense probably damaging 1.00
R6823:Fgf1 UTSW 18 38847108 missense probably damaging 1.00
X0063:Fgf1 UTSW 18 38858714 start codon destroyed probably null 0.95
Posted On2016-08-02