|Institutional Source||Beutler Lab|
|Gene Name||spen family transcription repressor|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R9120 (G1)|
|Chromosomal Location||141467890-141538597 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 141472922 bp (GRCm38)|
|Amino Acid Change||Threonine to Lysine at position 2798 (T2798K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000101412 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078886] [ENSMUST00000105786]|
|AlphaFold||no structure available at present|
AA Change: T2775K
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: T2775K
AA Change: T2798K
|Coding Region Coverage||
|Validation Efficiency||100% (54/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die during late gestation exhibiting morphological abnormalities of the heart, pancreas, and liver. Inactivation of this gene also affects the differentiation of B cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Spen||
(F):5'- ATGTCTGGGCAGTCAGTACC -3'
(R):5'- TGTCCTGACTACTCCTGTGAG -3'
(F):5'- TCAGTACCAGGGTAGAATGGGC -3'
(R):5'- TGAGTGCCACAGTGGGCAC -3'