|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 #||R0284 (G1)|
|Chromosomal Location||7197782-7202546 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 7198103 bp|
|Amino Acid Change||Serine to Proline at position 49 (S49P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020704 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020704]|
|Predicted Effect||probably damaging
AA Change: S49P
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: S49P
|Meta Mutation Damage Score||0.1477|
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
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'- TTGCGATGCCCGAGTTCCTAACTG -3'
(R):5'- CCAAGAGTGCCTTTGCCCTATCTG -3'
(F):5'- AGTTCCTAACTGTTGTTTCTTGGC -3'
(R):5'- CTTCATGCTGGGAGCTGAAC -3'