|Institutional Source||Beutler Lab|
|Gene Name||spectrin repeat containing, nuclear envelope 1|
|Synonyms||A330049M09Rik, enaptin165, SYNE-1, nesprin-1, C130039F11Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8713 (G1)|
|Chromosomal Location||5020917-5551482 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 5316040 bp (GRCm38)|
|Amino Acid Change||Leucine to Proline at position 2191 (L2191P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000150262 (fasta)|
|AlphaFold||no structure available at present|
AA Change: L2191P
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Syne1||
(F):5'- CGGAATGGACCTAGAAATACCC -3'
(R):5'- TGATAGCATTCAAGGCAAACG -3'
(F):5'- GGACCTAGAAATACCCATTTTTCC -3'
(R):5'- GCATTCAAGGCAAACGAATTAATG -3'