|Institutional Source||Beutler Lab|
|Gene Name||amyloid beta (A4) precursor protein binding, family A, member 1|
|Synonyms||6430513E09Rik, Lin-10, X11, Mint, Mint1, X11alpha|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6539 (G1)|
|Chromosomal Location||23758876-23949597 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 23936560 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 649 (D649G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025830 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025830]|
|Predicted Effect||probably damaging
AA Change: D649G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D649G
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals carrying a homozygous mutation of this gene have reduced body size. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Apba1||
(F):5'- TCAAGGGATTGTCCAGGGTG -3'
(R):5'- GTACTTAATGATAGGTTCCTCTGGG -3'
(F):5'- GGTGTGCCAGGAGTTCC -3'
(R):5'- TCCTCTGGGAAGAAGCCAG -3'