|Institutional Source||Beutler Lab|
|Gene Name||SPG11, spatacsin vesicle trafficking associated|
|Is this an essential gene?||Probably non essential (E-score: 0.202)|
|Stock #||R7229 (G1)|
|Chromosomal Location||122053520-122118386 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 122108104 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 456 (F456L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037543 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036450]|
|Predicted Effect||probably damaging
AA Change: F456L
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: F456L
|Meta Mutation Damage Score||0.0842|
|Coding Region Coverage||
|Validation Efficiency||100% (73/73)|
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'- TCCAGGCAGCAGAAGTGAATTATG -3'
(R):5'- GCACGTGAAGAGCAGTGATC -3'
(F):5'- ACAAGTCACACTTTGGGCTG -3'
(R):5'- TGATCCAGGAAGGCCGTG -3'