|Institutional Source||Beutler Lab|
|Gene Name||AE binding protein 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4415 (G1)|
|Chromosomal Location||5861947-5872088 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 5865451 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 303 (D303G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099987 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102923] [ENSMUST00000109829]|
|Predicted Effect||probably damaging
AA Change: D303G
PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: D303G
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|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 carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for one null allele exhibit neonatal lethality, abdominal wall herniation, extrusion of the abdominal organs, and defects in wound healing. Mice homozygous for another null allele exhibit embryonic lethality, decreased white adipose tissue, and resistance to diet-induced obesity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aebp1||
(F):5'- TTGAGTACATCCGTCGCCAG -3'
(R):5'- CTGCTAGAACCCAGGGTATG -3'
(F):5'- ATCCGTCGCCAGAAGCAG -3'
(R):5'- TATGGAGAGCAGGGCCCAC -3'