|Institutional Source||Beutler Lab|
|Gene Name||nudix (nucleoside diphosphate linked moiety X)-type motif 4|
|Synonyms||4933436C10Rik, DIPP2, DIPP2alpha, DIPP2beta, HDCMB47P|
|Is this an essential gene?||Probably essential (E-score: 0.913)|
|Stock #||R2137 (G1)|
|Chromosomal Location||95547007-95564146 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 95563738 bp|
|Amino Acid Change||Glutamine to Arginine at position 7 (Q7R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020217 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020217]|
|Predicted Effect||probably damaging
AA Change: Q7R
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: Q7R
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2344|
|Coding Region Coverage||
|Validation Efficiency||97% (60/62)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nudt4||
(F):5'- GCTTGCGACCTAATGGGAG -3'
(R):5'- GCACCGTCGCTTCCAACTG -3'
(F):5'- TCTAAAAGGCAGGCTGGC -3'
(R):5'- TCCAACTGTCTCCGCGTGG -3'