|Institutional Source||Beutler Lab|
|Gene Name||endoplasmic reticulum chaperone SIL1 homolog (S. cerevisiae)|
|Is this an essential gene?||Possibly non essential (E-score: 0.445)|
|Stock #||R1611 (G1)|
|Chromosomal Location||35266400-35498925 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 35269088 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 331 (V331E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025215 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025215]|
|Predicted Effect||possibly damaging
AA Change: V331E
PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: V331E
|Meta Mutation Damage Score||0.086|
|Coding Region Coverage||
|Validation Efficiency||97% (75/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele or spontaneous mutation exhibit ataxia and Purkinje cell degeneration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sil1||
(F):5'- CAGGTTCCAACCAAGGCGTCATAG -3'
(R):5'- TCCTGGAGTACACATGGACCCAAG -3'
(F):5'- CAAGGCGTCATAGGACAGTCTC -3'
(R):5'- TCACTGGGGTCACTGGG -3'