|Institutional Source||Beutler Lab|
|Gene Name||RuvB-like protein 1|
|Synonyms||Tip49a, 2510009G06Rik, Pontin52|
|Is this an essential gene?||Probably essential (E-score: 0.967)|
|Stock #||R5296 (G1)|
|Chromosomal Location||88465409-88497572 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 88485908 bp|
|Amino Acid Change||Isoleucine to Threonine at position 338 (I338T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032165 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032165] [ENSMUST00000129035]|
|Predicted Effect||probably damaging
AA Change: I338T
PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: I338T
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6557|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele show impaired proliferation of the pluripotent inner mass cells and embryonic lethality before implantation. Conditional ablation of this gene in hematopoietic tissues leads to bone marrow failure involving apoptotic loss of hematopoietic stem cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ruvbl1||
(F):5'- ACATCTAGATAAACTTCGAGGGGAG -3'
(R):5'- TAAAGACCAGCCCCTATGCG -3'
(F):5'- TAAACTTCGAGGGGAGATCAAC -3'
(R):5'- GCCCCTATGCGACCATTAC -3'