|Institutional Source||Beutler Lab|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6183 (G1)|
|Chromosomal Location||74338987-74391115 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 74373358 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Methionine at position 438 (I438M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024869 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024869] [ENSMUST00000224711] [ENSMUST00000225549]|
AA Change: I438M
PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: I438M
AA Change: I437M
PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutation in this gene are sterile and display progressive axonopathy with focal axonal swellings and late onset gait abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Spast||
(F):5'- CTGTAGGATGTGAAATAGTTCTCAC -3'
(R):5'- CCTAAGCCCGTCATTTTAATATGCATC -3'
(F):5'- CTCACTAAACTTCAGTTTGCAAAAGG -3'
(R):5'- GAGAGAACACTGCTTGCTTTTC -3'