|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4765 (G1)|
|Chromosomal Location||74338987-74391115 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 74369216 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 340 (D340E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000153469 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024869] [ENSMUST00000224711] [ENSMUST00000225549]|
AA Change: D341E
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: D341E
AA Change: D340E
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|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'- GCCAAGTGCTTCAACTTCTG -3'
(R):5'- ATGCTTGGTCCATCTCCAGG -3'
(F):5'- GATTGTTAAGCTAATACGCC -3'
(R):5'- GGTCCATCTCCAGGCTTCAATG -3'