|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family A (ABC1), member 6|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7242 (G1)|
|Chromosomal Location||110176820-110251776 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 110241653 bp|
|Amino Acid Change||Valine to Aspartic acid at position 272 (V272D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035458 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044003]|
|Predicted Effect||possibly damaging
AA Change: V272D
PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: V272D
|Coding Region Coverage||
|Validation Efficiency||100% (73/73)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abca6||
(F):5'- CACACTGGACATGACAAAGTG -3'
(R):5'- AAGGAGAGTATACACAGTGTACTTCTG -3'
(F):5'- CAAAGTGTCTCCTTAACATTCTCGAG -3'
(R):5'- GTATACACAGTGTACTTCTGCCATG -3'