|Institutional Source||Beutler Lab|
|Gene Name||nuclear VCP-like|
|Is this an essential gene?||Probably essential (E-score: 0.958)|
|Stock #||R5026 (G1)|
|Chromosomal Location||181087138-181144204 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 181105155 bp|
|Amino Acid Change||Arginine to Histidine at position 699 (R699H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027797 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027797]|
|Predicted Effect||probably damaging
AA Change: R699H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R699H
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0608|
|Coding Region Coverage||
|Validation Efficiency||96% (88/92)|
|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 AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. [provided by RefSeq, Aug 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nvl||
(F):5'- GAAACAATTTCATGAGAATCGAAAGA -3'
(R):5'- TCTGGATCCATGCTGCTGCT -3'
(F):5'- GTGAACTGAACACAGGCCCTTTTG -3'
(R):5'- AAGAGCGAATGTGCTCAG -3'