|Institutional Source||Beutler Lab|
|Gene Name||APOBEC1 complementation factor|
|Synonyms||apobec-1 complementation factor, ACF, 1810073H04Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.087)|
|Stock #||R0281 (G1)|
|Chromosomal Location||31868764-31948573 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 31945814 bp (GRCm38)|
|Amino Acid Change||Alanine to Threonine at position 505 (A505T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075235 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075838] [ENSMUST00000224304]|
AA Change: A505T
PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: A505T
AA Change: A497T
PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|Meta Mutation Damage Score||0.0852|
|Coding Region Coverage||
|Validation Efficiency||98% (104/106)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Embryos homozygous for a targeted deletion of this gene are detectable only until the blastocyst stage (E3.5) and isolated mutant blastocysts fail to proliferate in vitro. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in A1cf||
(F):5'- AAGTTGCCACTTCACCGTATAACCC -3'
(R):5'- TGATTCTGGCGTGACTGATCCCTG -3'
(F):5'- AATATCATCTGCTACCGAGGTGC -3'
(R):5'- GTGACTGATCCCTGCTCCC -3'