|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family E (OABP), member 1|
|Synonyms||Oabp, Rnaseli, RNS4l (Eye)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8047 (G1)|
|Chromosomal Location||79683462-79711740 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 79701188 bp|
|Amino Acid Change||Threonine to Isoleucine at position 157 (T157I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079379 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080536]|
|Predicted Effect||possibly damaging
AA Change: T157I
PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: T157I
|Coding Region Coverage||
FUNCTION: 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 OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abce1||
(F):5'- CCACTGTCCCCTGTCACAATAG -3'
(R):5'- CTGCTTCCAATCTTAAACTAGAAGTCC -3'
(F):5'- GTCCCCTGTCACAATAGAAAATTATC -3'
(R):5'- GGAACTGTCCCCTTTGTATT -3'