|Institutional Source||Beutler Lab|
|Gene Name||ATP binding cassette subfamily G member 3|
|Is this an essential gene?||Probably non essential (E-score: 0.064)|
|Stock #||R5309 (G1)|
|Chromosomal Location||104935057-104982718 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 104936599 bp|
|Amino Acid Change||Cysteine to Glycine at position 577 (C577G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000120179 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031239] [ENSMUST00000130644]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: C577G
PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: C577G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0612|
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
|MGI Phenotype||FUNCTION: The 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 White subfamily. It lacks several highly conserved residues found in other ATP-binding proteins; this suggests that this protein may not bind ATP and may require dimerization with another subunit to form a functional ATP-transporter. The function of this gene has not yet been determined; however, high levels of expression in the thymus and spleen suggest a potential role in the transport of specific peptides or hydrophobic compounds from lymphocytes. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abcg3||
(F):5'- TAGACTTCACGGTGTCATTCC -3'
(R):5'- GGAATAGACTCCCAGCTGAAAC -3'
(F):5'- ACGGTGTCATTCCTTTCTGAATC -3'
(R):5'- AGGACCAAGGGCCTCTCTTC -3'