|Institutional Source||Beutler Lab|
|Gene Name||Sp140 nuclear body protein|
|Essential gene?||Probably non essential (E-score: 0.173)|
|Stock #||R4776 (G1)|
|Chromosomal Location||85600378-85645037 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 85610828 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 95 (D95E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079095 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080204] [ENSMUST00000113385]|
AA Change: D95E
PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: D95E
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||98% (94/96)|
|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 SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sp140||
(F):5'- CCTTGGTATTTGCAAAACTCAGAC -3'
(R):5'- TGTGCTTGGCATGACATAGTCTC -3'
(F):5'- GTTTGAACCAATGTAAGCC -3'
(R):5'- CTGGTCTACAAAGTGAGCTCCAG -3'