|Institutional Source||Beutler Lab|
|Gene Name||BAI1-associated protein 2-like 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||PIT4382001 (G1)|
|Chromosomal Location||144264526-144358112 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 144278670 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 342 (K342E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053129 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055190] [ENSMUST00000155491]|
|Predicted Effect||possibly damaging
AA Change: K342E
PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: K342E
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased circulating glucose and insulin levels, impaired glucose tolerance and insulin resistance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Baiap2l1||
(F):5'- TTTACAGGAAAGACGGCAGCTC -3'
(R):5'- TCCATAAGGGGATCAGGTAGGC -3'
(F):5'- AGGGCCATTTGAACCTGATGC -3'
(R):5'- TCAGGTAGGCAAGACACAGAAAC -3'