|Institutional Source||Beutler Lab|
|Gene Name||brain abundant, membrane attached signal protein 1|
|Synonyms||Ckap3, CAP-23, 2610024P12Rik, CAP23|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3796 (G1)|
|Chromosomal Location||25363277-25413764 bp(-) (GRCm38)|
|Type of Mutation||unclassified|
|DNA Base Change (assembly)||C to A at 25364312 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000154675 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058845] [ENSMUST00000228597]|
AA Change: A200S
AA Change: A200S
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1509|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality, hyperactivity, decreased body weight, and defects in neurite axon outgrowth, Schwann cell morphology, and brain ventricle size. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Basp1||
(F):5'- GGGCAATACATATCCTCACTTCC -3'
(R):5'- AGGGCTACAATGTGAACGAC -3'
(F):5'- TCCTCACTTCCAATTTGAAACAAG -3'
(R):5'- ACGCCACCGAGGTCAAG -3'