|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family B (MDR/TAP), member 7|
|Is this an essential gene?||Probably essential (E-score: 0.894)|
|Stock #||R3906 (G1)|
|Chromosomal Location||104280657-104413856 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 104284159 bp|
|Amino Acid Change||Glutamine to Lysine at position 715 (Q715K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033695 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033695]|
|Predicted Effect||probably benign
AA Change: Q715K
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: Q715K
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||97% (36/37)|
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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Hemizygous male and heterozygous female mice carrying a maternally inherited null allele display prenatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abcb7||
(F):5'- CTGGTTCTACTTCAGTGCAAATGC -3'
(R):5'- ACAGGTCCTCCAAATAGTTCCTC -3'
(F):5'- CTTCAGTGCAAATGCTAATGCC -3'
(R):5'- AGGTAGCTGAACGTGGTA -3'