|Institutional Source||Beutler Lab|
|Gene Name||transcriptional and immune response regulator|
|Is this an essential gene?||Probably non essential (E-score: 0.249)|
|Stock #||R0464 (G1)|
|Chromosomal Location||24437180-24438984 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 24438628 bp|
|Amino Acid Change||Aspartic acid to Valine at position 90 (D90V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058631 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052622]|
|Predicted Effect||probably damaging
AA Change: D90V
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: D90V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.18|
|Coding Region Coverage||
|Validation Efficiency||100% (80/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit myeloid and lymphoid hyperplasia, an increased number of small-sized red blood cells, increased hematopoietic stem cell number, and enhanced hematopoietic activity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tcim||
(F):5'- AGGAAGCTCTCAAGCCTTTTCGC -3'
(R):5'- ACGTCACCAGTGTAATTTGAGTCCC -3'
(F):5'- CTGTGCTCAGTGTACCTTGA -3'
(R):5'- CCTGGGACGATTTTTACAACAGAC -3'