|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 #||R3872 (G1)|
|Chromosomal Location||24878770-24882008 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 24881605 bp|
|Amino Acid Change||Valine to Isoleucine at position 557 (V557I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000060169 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044252] [ENSMUST00000050714]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: V557I
PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: V557I
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
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'- AAGGCCTTTTCTCATCTCTGGG -3'
(R):5'- GTATTCCAGAGCCAGCTTATTCTG -3'
(F):5'- TCATCTCTGGGGCGGCTTC -3'
(R):5'- CAGAGCCAGCTTATTCTGTAACAGTG -3'