Incidental Mutation 'R6183:Spast'
ID 487645
Institutional Source Beutler Lab
Gene Symbol Spast
Ensembl Gene ENSMUSG00000024068
Gene Name spastin
Synonyms Spg4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6183 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 74645982-74698110 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74680353 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9QYY8
Predicted Effect probably damaging
Transcript: ENSMUST00000024869
AA Change: I438M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024869
Gene: ENSMUSG00000024068
AA Change: I438M

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 damaging
Transcript: ENSMUST00000224711
AA Change: I437M

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000225549
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,968,718 (GRCm39) D352E probably benign Het
Adgrb3 T A 1: 25,133,451 (GRCm39) I972L probably damaging Het
Alg3 T C 16: 20,429,391 (GRCm39) Y33C probably benign Het
Atp1a3 C T 7: 24,681,177 (GRCm39) G816D probably damaging Het
Ccdc121 T C 5: 31,645,320 (GRCm39) Y358H probably damaging Het
Ces1g C T 8: 94,057,867 (GRCm39) V145M possibly damaging Het
Clip1 A G 5: 123,780,667 (GRCm39) S339P probably damaging Het
Col2a1 G T 15: 97,886,671 (GRCm39) T378N unknown Het
Dennd4b ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAGCAGCAG 3: 90,182,875 (GRCm39) probably benign Het
Dnah12 T A 14: 26,583,726 (GRCm39) L3207Q probably damaging Het
Efcab5 T C 11: 77,028,084 (GRCm39) T416A probably benign Het
Ephb1 A T 9: 102,072,524 (GRCm39) I85N probably damaging Het
Etnppl T C 3: 130,413,966 (GRCm39) C22R probably damaging Het
F830016B08Rik A G 18: 60,432,949 (GRCm39) T11A probably benign Het
Gm5458 C A 14: 19,649,712 (GRCm39) V171L probably damaging Het
Helb G T 10: 119,948,903 (GRCm39) probably null Het
Hnrnpll A G 17: 80,357,305 (GRCm39) V237A possibly damaging Het
Hps3 T C 3: 20,063,032 (GRCm39) T712A probably benign Het
Ibsp A G 5: 104,453,896 (GRCm39) E78G possibly damaging Het
Ighv1-62-2 G A 12: 115,410,056 (GRCm39) A111V probably damaging Het
Igkv4-63 G T 6: 69,355,108 (GRCm39) Q58K probably damaging Het
Iqcg T C 16: 32,851,293 (GRCm39) Y226C probably damaging Het
Khdc1a A T 1: 21,420,332 (GRCm39) D30V possibly damaging Het
Krtap5-5 C A 7: 141,783,524 (GRCm39) C42F unknown Het
Lmod3 T C 6: 97,229,514 (GRCm39) N7D probably damaging Het
Lvrn A G 18: 46,983,752 (GRCm39) N165S probably benign Het
Ms4a4c A G 19: 11,403,593 (GRCm39) T192A possibly damaging Het
Ncald A T 15: 37,397,476 (GRCm39) V68D probably damaging Het
Or4e5 T A 14: 52,728,188 (GRCm39) T78S probably benign Het
Pcdhgb7 A T 18: 37,885,315 (GRCm39) I162F probably damaging Het
Prokr1 T C 6: 87,565,834 (GRCm39) T4A possibly damaging Het
Qrich2 T A 11: 116,348,955 (GRCm39) probably benign Het
Rgl1 C T 1: 152,462,321 (GRCm39) E60K possibly damaging Het
Rtn1 A T 12: 72,455,265 (GRCm39) W21R probably benign Het
Scart2 A G 7: 139,875,947 (GRCm39) T404A possibly damaging Het
Sptbn5 C T 2: 119,889,898 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Tas1r1 A G 4: 152,116,998 (GRCm39) I212T probably damaging Het
Tbc1d1 A G 5: 64,432,768 (GRCm39) N439D probably damaging Het
Tjp2 C T 19: 24,078,155 (GRCm39) A913T probably damaging Het
Tnfrsf26 A G 7: 143,165,494 (GRCm39) L47P probably damaging Het
Unc13a A T 8: 72,097,310 (GRCm39) S1195T probably damaging Het
Usp54 T C 14: 20,602,313 (GRCm39) R1346G probably damaging Het
Vmn1r54 T A 6: 90,246,272 (GRCm39) M62K possibly damaging Het
Vmn2r125 A T 4: 156,702,364 (GRCm39) D50V probably damaging Het
Vmn2r66 T C 7: 84,644,766 (GRCm39) D548G possibly damaging Het
Vmn2r95 T A 17: 18,664,192 (GRCm39) N470K probably damaging Het
Zc3h7a A T 16: 10,965,234 (GRCm39) I633N possibly damaging Het
Other mutations in Spast
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02226:Spast APN 17 74,679,334 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CTGTAGGATGTGAAATAGTTCTCAC -3'
(R):5'- CCTAAGCCCGTCATTTTAATATGCATC -3'

Sequencing Primer
(F):5'- CTCACTAAACTTCAGTTTGCAAAAGG -3'
(R):5'- GAGAGAACACTGCTTGCTTTTC -3'
Posted On 2017-10-10