|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family A (ABC1), member 13|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7299 (G1)|
|Chromosomal Location||9191942-9684259 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 9294649 bp|
|Amino Acid Change||Asparagine to Tyrosine at position 2171 (N2171Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040465 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042740]|
|Predicted Effect||probably damaging
AA Change: N2171Y
PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: N2171Y
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abca13||
(F):5'- TGGAACTCCTGGATTCATCACC -3'
(R):5'- GCGTGCTTCAAGATGAGATTC -3'
(F):5'- CCTGGATTCATCACCATTGAAG -3'
(R):5'- CGTGCTTCAAGATGAGATTCATGAG -3'