|Institutional Source||Beutler Lab|
|Gene Name||disco interacting protein 2 homolog B|
|Is this an essential gene?||Possibly non essential (E-score: 0.440)|
|Stock #||R6391 (G1)|
|Chromosomal Location||100038664-100219473 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 100151276 bp|
|Amino Acid Change||Serine to Proline at position 184 (S184P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097777 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023768] [ENSMUST00000100203]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: S184P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S184P
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
|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'- ACTGAAGTCTGTGCTCGAGG -3'
(R):5'- AACACACTGTGGCCTTTCC -3'
(F):5'- AGGCAGGATCGACCCTTC -3'
(R):5'- GTGATCAAACTTTCTAAGCCTTCG -3'