|Institutional Source||Beutler Lab|
|Gene Name||insulin-like growth factor 2 mRNA binding protein 1|
|Synonyms||IMP-1, Zbp1, D030026A21Rik, D11Moh45, CRD-BP, D11Moh40e, Crdbp|
|Is this an essential gene?||Probably non essential (E-score: 0.206)|
|Stock #||R7173 (G1)|
|Chromosomal Location||95957163-96005940 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 95968464 bp|
|Amino Acid Change||Methionine to Valine at position 407 (M407V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000013559 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000013559]|
|Predicted Effect||probably benign
AA Change: M407V
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: M407V
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous mutation of this locus results in increased neonatal lethality, growth retardation, and impaired intestinal development. Males exhibit increased anxiety-like response and decreased exploratory behavior. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Igf2bp1||
(F):5'- TGGGCTTTTCACTCCCAGTG -3'
(R):5'- AGCAGCTTTCCACTTGGTTTTAG -3'
(F):5'- ACTCCCAGTGTGACGTGTGAAG -3'
(R):5'- TTAGCTCCCTTTAGTTGGAAGG -3'