|Institutional Source||Beutler Lab|
|Gene Name||nuclear receptor-binding SET-domain protein 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5264 (G1)|
|Chromosomal Location||55209782-55318325 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 55247346 bp|
|Amino Acid Change||Alanine to Valine at position 1023 (A1023V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097089 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099490] [ENSMUST00000224973]|
|Predicted Effect||possibly damaging
AA Change: A1023V
PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: A1023V
|Predicted Effect||probably benign
AA Change: A920V
PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit excess apoptosis and retarded growth, fail to complete gastrulation, and are resorbed by embryonic day 10. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nsd1||
(F):5'- AAAAGCCTGGAGATAGCACTC -3'
(R):5'- AGGTCCATTTGTTGCAGAGG -3'
(F):5'- GAGATAGCACTCAGGACTCAGTTC -3'
(R):5'- GCAGAGGCTCTTCTTTACCAGG -3'