|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 #||R7098 (G1)|
|Chromosomal Location||79683462-79711740 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 79686049 bp|
|Amino Acid Change||Threonine to Alanine at position 550 (T550A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079379 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080536]|
|Predicted Effect||probably benign
AA Change: T550A
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: T550A
|Coding Region Coverage||
|Validation Efficiency||100% (78/78)|
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'- GCCAGATTTCAAGGCAGTTTTA -3'
(R):5'- AGGGGAACGAGCTTAGCTAT -3'
(F):5'- CCAGATTTCAAGGCAGTTTTAAATGG -3'
(R):5'- ATCCGTAACGAGGTCTGACTC -3'