|Institutional Source||Beutler Lab|
|Gene Name||cAMP responsive element binding protein 3-like 1|
|Synonyms||BBF-2 (drosophila) homolog, Oasis|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6144 (G1)|
|Chromosomal Location||91982328-92024502 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 91992005 bp|
|Amino Acid Change||Histidine to Arginine at position 212 (H212R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028663 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028663]|
|Predicted Effect||possibly damaging
AA Change: H212R
PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
AA Change: H212R
|Coding Region Coverage||
|Validation Efficiency||96% (65/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal growth retardation, fragile skeleton, and decreased bone density, cortical and trabecular thickness, and osteoblast maturation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Creb3l1||
(F):5'- AGGGAACTAGGTGAGCCTAC -3'
(R):5'- CAGCAATCATCTTCATGGGTGC -3'
(F):5'- GGAACTAGGTGAGCCTACTTATCAC -3'
(R):5'- CAATCATCTTCATGGGTGCCAAGTG -3'