|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family A (ABC1), member 12|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1580 (G1)|
|Chromosomal Location||71242276-71414910 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 71265965 bp|
|Amino Acid Change||Valine to Isoleucine at position 2044 (V2044I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084523 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087268]|
|Predicted Effect||possibly damaging
AA Change: V2044I
PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: V2044I
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||96% (43/45)|
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, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abca12||
(F):5'- GATACCCAGTAAGTGCCTGTTCGTG -3'
(R):5'- TGAGAACTGTTGCCCTGATGCTTTG -3'
(F):5'- GTGCCTGTTCGTGATAACAAC -3'
(R):5'- GATGCTTTGCACGAAATGCC -3'