|Institutional Source||Beutler Lab|
|Gene Name||disco interacting protein 2 homolog B|
|Is this an essential gene?||Possibly essential (E-score: 0.699)|
|Stock #||R6367 (G1)|
|Chromosomal Location||100038664-100219473 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 100115914 bp (GRCm38)|
|Amino Acid Change||Glutamine to Leucine at position 57 (Q57L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097777 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000100203]|
AA Change: Q57L
PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: Q57L
|Coding Region Coverage||
|Validation Efficiency||98% (44/45)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dip2b||
(F):5'- TGTGGTACTTCTCTAGCATGC -3'
(R):5'- ATTCTGTCACTGAACCGTCTCAG -3'
(F):5'- TTAGGGGACATCACACAG -3'
(R):5'- CACCCGAGGTCTATGCAAATGG -3'