|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family F (GCN20), member 1|
|Synonyms||GCN20, D17Wsu166e, Abc50|
|Is this an essential gene?||Probably essential (E-score: 0.949)|
|Stock #||R7095 (G1)|
|Chromosomal Location||35956819-35969761 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 35957511 bp|
|Amino Acid Change||Valine to Alanine at position 809 (V809A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036881 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043757]|
|Predicted Effect||possibly damaging
AA Change: V809A
PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: V809A
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display lethality shortly after implantation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abcf1||
(F):5'- CAGGCTTCTAGGTGGATGAG -3'
(R):5'- GCCATCAACGACTACAAGGG -3'
(F):5'- AGACGGCCTAGACTCCAG -3'
(R):5'- GGGGTAAGTGCTCAGACAG -3'