|Institutional Source||Beutler Lab|
|Gene Name||insulin-like growth factor binding protein 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1292 (G1)|
|Chromosomal Location||7197782-7202546 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 7200863 bp|
|Amino Acid Change||Asparagine to Serine at position 218 (N218S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020704 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020704]|
|Predicted Effect||probably damaging
AA Change: N218S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N218S
|Meta Mutation Damage Score||0.7288|
|Coding Region Coverage||
|Validation Efficiency||97% (31/32)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene desplay a grossly normal phenotype but are more susceptible to liver injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Igfbp1||
(F):5'- ACTCACAGTCCTAGAATACCGTGCC -3'
(R):5'- GGACTAGCTTTTCCCAACTGCTGC -3'
(F):5'- AATACCGTGCCTCGGTGG -3'
(R):5'- CAGGGCTGGATCTCAGAAAGC -3'