|Institutional Source||Beutler Lab|
|Gene Name||adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.291)|
|Stock #||R7044 (G1)|
|Chromosomal Location||26918988-26971232 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 26928677 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 513 (S513P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042875 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036570]|
AA Change: S513P
PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: S513P
|Meta Mutation Damage Score||0.0919|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Appl1||
(F):5'- AACTTGGGTCTGCGGATCAATTAAC -3'
(R):5'- CTTTTGGGAAACAACTGTAGGATTG -3'
(F):5'- CAAGCAGTCACAAGTGACTA -3'
(R):5'- TGTGAGTTAAGGCCAACC -3'