|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 #||R4879 (G1)|
|Chromosomal Location||110176820-110251776 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 110219700 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 541 (Y541F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035458 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044003]|
|Predicted Effect||probably damaging
AA Change: Y541F
PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: Y541F
|Meta Mutation Damage Score||0.1390|
|Coding Region Coverage||
|Validation Efficiency||97% (86/89)|
|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'- AGCCAACCTCTTGCTCTACG -3'
(R):5'- CATTTCCCAGATTTCACAGGAATCAC -3'
(F):5'- GCTCTACGTCCTGTGGAAGAATC -3'
(R):5'- TGCTATCTCAGAGAGAACGTGCTAC -3'