|Institutional Source||Beutler Lab|
|Gene Name||death inducer-obliterator 1|
|Synonyms||6720461J16Rik, DIO-1, Datf1, D130048F08Rik|
|Is this an essential gene?||Probably essential (E-score: 0.958)|
|Stock #||R4979 (G1)|
|Chromosomal Location||180657964-180709999 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 180660813 bp|
|Amino Acid Change||Arginine to Histidine at position 1766 (R1766H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084794 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087517]|
|Predicted Effect||probably damaging
AA Change: R1766H
PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: R1766H
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||99% (79/80)|
FUNCTION: This gene encodes a transcription factor involved in apoptosis. The encoded protein functions in cell cycle progression and plays a role in chromosomal stability. This protein regulates the self-renewal of embryonic stem cells. Disruption of this gene in mice causes symptoms similar to myelodysplastic/myeloproliferative diseases in humans. Mice lacking this gene show severely reduced fertility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severely reduced fertility; about one-half develop a transplantable disease characterized by anomalies in spleen, bone marrow, and peripheral blood and including anemia and various symptoms typical of myeloid dysplasia or myeloid proliferation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dido1||
(F):5'- CCATGTTGCCCAGAGAATAAGG -3'
(R):5'- CAGGGCCCACATTTATGTCTC -3'
(F):5'- ATAAGGAAGGGATTGGTGGCTTC -3'
(R):5'- ATGTCTCAGGAAACATCTCTTGGC -3'