|Institutional Source||Beutler Lab|
|Gene Name||SPG11, spatacsin vesicle trafficking associated|
|Is this an essential gene?||Possibly non essential (E-score: 0.471)|
|Stock #||R5899 (G1)|
|Chromosomal Location||122053520-122118386 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 122098199 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 591 (D591G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037543 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036450]|
|Predicted Effect||possibly damaging
AA Change: D591G
PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: D591G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0496|
|Coding Region Coverage||
|Validation Efficiency||93% (56/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a knock-out allele develop a progressive spastic and ataxic gait disorder and show loss of cortical motoneurons and Purkinje cells, a reduced number of lysosomes available for fusion with autophagosomes in degenerating neurons, and accumulation of autolysosome-derived material. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Spg11||
(F):5'- TGCTCTGACTAGTGGCATGC -3'
(R):5'- CTTGGGAAGTACATTAGGCCTG -3'
(F):5'- ACTGCTCTCACCAGTGGCATG -3'
(R):5'- GGCCTGTTTATATTTCAGAATACTGC -3'