|Institutional Source||Beutler Lab|
|Gene Name||SS18, nBAF chromatin remodeling complex subunit like 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.349)|
|Stock #||R0904 (G1)|
|Chromosomal Location||180042509-180070201 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 180059354 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Cysteine at position 287 (Y287C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041288 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041126]|
AA Change: Y287C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y287C
|Meta Mutation Damage Score||0.4253|
|Coding Region Coverage||
|Validation Efficiency||89% (34/38)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene have central nervous system and coordination defects. They grow slowly and usually die before adulthood. Those that do survive are infertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ss18l1||
(F):5'- CATCCGCAGTTTACAGGTGGAGAG -3'
(R):5'- CACTGTTTGCCAAATGCACGAGG -3'
(F):5'- agagggagagagagagagaac -3'
(R):5'- CAATGACGCGGCTGAGAC -3'