Incidental Mutation 'IGL02226:Spast'
ID 285368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spast
Ensembl Gene ENSMUSG00000024068
Gene Name spastin
Synonyms Spg4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02226
Quality Score
Status
Chromosome 17
Chromosomal Location 74645982-74698110 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 74679334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024869] [ENSMUST00000224711] [ENSMUST00000225549]
AlphaFold Q9QYY8
Predicted Effect probably benign
Transcript: ENSMUST00000024869
SMART Domains Protein: ENSMUSP00000024869
Gene: ENSMUSG00000024068

DomainStartEndE-ValueType
low complexity region 3 46 N/A INTRINSIC
transmembrane domain 55 77 N/A INTRINSIC
low complexity region 90 113 N/A INTRINSIC
MIT 114 192 4.33e-18 SMART
AAA 372 508 7.59e-17 SMART
low complexity region 513 520 N/A INTRINSIC
Pfam:Vps4_C 560 610 1.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224711
Predicted Effect probably benign
Transcript: ENSMUST00000225549
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T C 12: 53,057,250 (GRCm39) probably benign Het
Ankrd11 G A 8: 123,618,984 (GRCm39) R1602W probably damaging Het
Arhgap23 G T 11: 97,342,426 (GRCm39) R236L probably benign Het
Aurkaip1 T C 4: 155,917,028 (GRCm39) V92A probably benign Het
Cdh20 A T 1: 104,881,816 (GRCm39) probably benign Het
Ctnnd2 A G 15: 30,847,482 (GRCm39) N691S probably benign Het
Ddx24 A C 12: 103,390,717 (GRCm39) D2E possibly damaging Het
Dennd5b A G 6: 148,934,799 (GRCm39) S691P probably benign Het
Dhrs3 C T 4: 144,650,519 (GRCm39) R248W possibly damaging Het
Dlgap1 T C 17: 70,823,029 (GRCm39) S5P probably damaging Het
Dnai4 A T 4: 102,947,595 (GRCm39) I227K probably benign Het
Ep300 A T 15: 81,497,613 (GRCm39) M510L unknown Het
Fbxo25 T C 8: 13,973,922 (GRCm39) probably benign Het
Gm3252 A T 14: 4,743,741 (GRCm38) K193M possibly damaging Het
Gtf3c1 T C 7: 125,267,162 (GRCm39) probably null Het
Helz2 T C 2: 180,873,483 (GRCm39) D2337G probably damaging Het
Idh1 A T 1: 65,201,081 (GRCm39) M290K probably damaging Het
Layn T C 9: 50,985,317 (GRCm39) S80G probably damaging Het
Ltbp4 C T 7: 27,006,359 (GRCm39) E1440K probably damaging Het
Mri1 T C 8: 84,982,924 (GRCm39) T166A probably damaging Het
Myod1 C T 7: 46,027,730 (GRCm39) T290I probably benign Het
Nfat5 T A 8: 108,078,154 (GRCm39) L431* probably null Het
Nle1 A T 11: 82,795,133 (GRCm39) Y299* probably null Het
Nlrp4c T A 7: 6,069,828 (GRCm39) F576L possibly damaging Het
Nudt21 G T 8: 94,746,329 (GRCm39) S123* probably null Het
Plekhg1 A C 10: 3,895,916 (GRCm39) D436A probably damaging Het
Plxna2 T C 1: 194,326,732 (GRCm39) V222A probably damaging Het
Ppp4r3c1 A C X: 88,975,518 (GRCm39) D226E probably damaging Het
Rbm14 A G 19: 4,851,745 (GRCm39) probably benign Het
Scfd1 T A 12: 51,436,164 (GRCm39) probably benign Het
Slc34a2 A G 5: 53,225,073 (GRCm39) T405A probably benign Het
Slc39a9 T A 12: 80,691,695 (GRCm39) M14K probably damaging Het
Slc39a9 G A 12: 80,691,696 (GRCm39) M14I probably damaging Het
Spen T C 4: 141,205,457 (GRCm39) R1057G unknown Het
Sptbn4 T G 7: 27,065,132 (GRCm39) T2056P probably damaging Het
Ssrp1 T C 2: 84,870,705 (GRCm39) L148P probably damaging Het
Tdrd6 T A 17: 43,938,093 (GRCm39) H985L probably damaging Het
Tmem44 A G 16: 30,358,199 (GRCm39) probably benign Het
Vmn2r116 T A 17: 23,603,808 (GRCm39) L11Q probably null Het
Other mutations in Spast
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0671:Spast UTSW 17 74,646,446 (GRCm39) splice site probably benign
R1170:Spast UTSW 17 74,688,963 (GRCm39) critical splice acceptor site probably null
R1698:Spast UTSW 17 74,663,155 (GRCm39) nonsense probably null
R2076:Spast UTSW 17 74,659,026 (GRCm39) missense probably damaging 1.00
R4334:Spast UTSW 17 74,659,010 (GRCm39) missense probably damaging 1.00
R4765:Spast UTSW 17 74,676,211 (GRCm39) missense probably damaging 1.00
R5002:Spast UTSW 17 74,676,221 (GRCm39) nonsense probably null
R5911:Spast UTSW 17 74,694,058 (GRCm39) missense probably benign 0.00
R6073:Spast UTSW 17 74,680,300 (GRCm39) missense probably damaging 1.00
R6183:Spast UTSW 17 74,680,353 (GRCm39) missense probably damaging 0.99
R6450:Spast UTSW 17 74,675,835 (GRCm39) missense probably benign 0.01
R6819:Spast UTSW 17 74,674,281 (GRCm39) missense possibly damaging 0.47
R6821:Spast UTSW 17 74,658,957 (GRCm39) missense probably benign 0.02
R7349:Spast UTSW 17 74,680,319 (GRCm39) missense probably damaging 0.99
R7611:Spast UTSW 17 74,676,198 (GRCm39) missense probably damaging 1.00
R7715:Spast UTSW 17 74,675,921 (GRCm39) missense probably benign 0.01
R8348:Spast UTSW 17 74,666,293 (GRCm39) missense probably benign 0.41
R8448:Spast UTSW 17 74,666,293 (GRCm39) missense probably benign 0.41
R8698:Spast UTSW 17 74,666,341 (GRCm39) missense probably benign 0.00
R8857:Spast UTSW 17 74,675,938 (GRCm39) missense possibly damaging 0.77
R8898:Spast UTSW 17 74,695,273 (GRCm39) missense probably damaging 1.00
R9269:Spast UTSW 17 74,646,069 (GRCm39) nonsense probably null
R9472:Spast UTSW 17 74,681,143 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16