|Institutional Source||Beutler Lab|
|Gene Name||insulin receptor substrate 1|
|Is this an essential gene?||Possibly essential (E-score: 0.592)|
|Stock #||R4881 (G1)|
|Chromosomal Location||82233101-82291416 bp(-) (GRCm38)|
|Type of Mutation||frame shift|
|DNA Base Change (assembly)||TGGGGTGGACATCGAACTGAAGGAG to TG at 82287732 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000063795 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000069799]|
|Predicted Effect||probably null
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit 50 percent reductions in body weights at birth and at 4 months of age, impaired glucose tolerance, and mild insulin and IGF-1 resistance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Irs1||
(F):5'- ACGGCTATTTGGCACCGAAC -3'
(R):5'- GTAGACACAGCTGCACAGAC -3'
(F):5'- AACGGGTTGGCCTGCAAAC -3'
(R):5'- TCGACCCACAAGGCTGTC -3'