|Institutional Source||Beutler Lab|
|Gene Name||ubiquitin specific peptidase 44|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0497 (G1)|
|Chromosomal Location||93831555-93858088 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 93846806 bp|
|Amino Acid Change||Proline to Serine at position 373 (P373S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000149020 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095333] [ENSMUST00000216224]|
|Predicted Effect||probably benign
AA Change: P326S
PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: P326S
|Predicted Effect||possibly damaging
AA Change: P373S
PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|Meta Mutation Damage Score||0.2177|
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20, which stabilizes the anaphase promoting complex/cyclosome. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit chromosomal instability, aneuploidy and increased tumor incidence. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Usp44||
(F):5'- TCCTGGTGTAACCGGACTGAGAAAC -3'
(R):5'- AAATTCCTGAGCATCCTGCTGGGC -3'
(F):5'- AGCTTGACCTGAACCAGTG -3'
(R):5'- CATCCTGCTGGGCGTAAC -3'