|Institutional Source||Beutler Lab|
|Gene Name||insulin-like growth factor binding protein, acid labile subunit|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7700 (G1)|
|Chromosomal Location||24878770-24882008 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 24880574 bp|
|Amino Acid Change||Leucine to Proline at position 213 (L213P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000060169 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044252] [ENSMUST00000050714]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: L213P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L213P
|Coding Region Coverage||
|Validation Efficiency||100% (85/85)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene gain weight more slowly after birth and display less growth in long bones. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Igfals||
(F):5'- TTTGGGCAACAACCTCCTGG -3'
(R):5'- GCAAGCTAGTGATGGCGTTG -3'
(F):5'- AACAACCTCCTGGGCCGG -3'
(R):5'- TGTGTGACAGGTCCAGCCAAC -3'