Incidental Mutation 'IGL03217:Spg20'
ID413519
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spg20
Ensembl Gene ENSMUSG00000036580
Gene Namespastic paraplegia 20, spartin (Troyer syndrome) homolog (human)
SynonymsTAHCCP1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.194) question?
Stock #IGL03217
Quality Score
Status
Chromosome3
Chromosomal Location55112108-55137322 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 55128491 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044116] [ENSMUST00000107971] [ENSMUST00000117341] [ENSMUST00000118118]
Predicted Effect probably benign
Transcript: ENSMUST00000044116
SMART Domains Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580

DomainStartEndE-ValueType
MIT 16 94 4.64e-18 SMART
SCOP:d1bw0a_ 158 254 8e-4 SMART
low complexity region 369 381 N/A INTRINSIC
low complexity region 408 426 N/A INTRINSIC
Pfam:Senescence 431 616 9.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107971
SMART Domains Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580

DomainStartEndE-ValueType
MIT 16 94 4.64e-18 SMART
SCOP:d1bw0a_ 158 254 9e-4 SMART
low complexity region 351 369 N/A INTRINSIC
Pfam:Senescence 373 560 3.2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117341
SMART Domains Protein: ENSMUSP00000113968
Gene: ENSMUSG00000036580

DomainStartEndE-ValueType
MIT 16 94 4.64e-18 SMART
SCOP:d1bw0a_ 158 254 8e-4 SMART
low complexity region 369 381 N/A INTRINSIC
low complexity region 408 426 N/A INTRINSIC
Pfam:Senescence 430 582 9.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118118
SMART Domains Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580

DomainStartEndE-ValueType
MIT 16 94 4.64e-18 SMART
SCOP:d1bw0a_ 158 254 8e-4 SMART
low complexity region 369 381 N/A INTRINSIC
low complexity region 408 426 N/A INTRINSIC
Pfam:Senescence 430 617 3.8e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199416
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired lipid droplet amintenance, cytokinesis and impaired motor coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,349,995 I29T probably damaging Het
Adam2 G A 14: 66,034,813 P640L possibly damaging Het
Ccl4 T C 11: 83,662,678 S6P unknown Het
Cd300lf T A 11: 115,124,291 T151S possibly damaging Het
Elk4 A G 1: 132,018,040 T219A probably benign Het
Eml1 G T 12: 108,534,942 E680D probably benign Het
Gm9755 T C 8: 67,514,383 noncoding transcript Het
Hmcn1 A T 1: 150,743,667 I1232N possibly damaging Het
Maml2 T C 9: 13,619,999 S170P probably damaging Het
Mettl16 T A 11: 74,817,703 M536K probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nxf2 T C X: 134,955,532 I287V probably benign Het
Nyap2 A G 1: 81,087,322 D17G probably damaging Het
Pde6b T C 5: 108,419,566 C270R probably damaging Het
Ptchd1 T C X: 155,573,959 D750G probably damaging Het
Rrn3 G A 16: 13,809,011 E490K possibly damaging Het
Slc27a2 G A 2: 126,586,252 G519D possibly damaging Het
Sox5 A G 6: 143,907,497 S352P probably damaging Het
Sult1e1 T C 5: 87,590,088 T45A possibly damaging Het
Tat G A 8: 109,995,186 V242I probably benign Het
Zfp442 A G 2: 150,409,794 probably benign Het
Other mutations in Spg20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Spg20 APN 3 55121756 missense probably damaging 1.00
IGL01539:Spg20 APN 3 55117302 missense possibly damaging 0.95
IGL01982:Spg20 APN 3 55128490 splice site probably null
IGL02345:Spg20 APN 3 55117726 splice site probably null
IGL03344:Spg20 APN 3 55121685 missense probably benign 0.03
BB007:Spg20 UTSW 3 55128276 missense probably damaging 1.00
BB017:Spg20 UTSW 3 55128276 missense probably damaging 1.00
R0145:Spg20 UTSW 3 55127671 nonsense probably null
R0522:Spg20 UTSW 3 55128365 missense probably damaging 1.00
R1506:Spg20 UTSW 3 55117571 missense probably damaging 0.99
R2043:Spg20 UTSW 3 55127548 missense probably damaging 1.00
R2183:Spg20 UTSW 3 55117133 missense probably benign 0.43
R4022:Spg20 UTSW 3 55117736 missense probably damaging 1.00
R5154:Spg20 UTSW 3 55117329 missense probably damaging 1.00
R5869:Spg20 UTSW 3 55135510 missense probably benign 0.00
R5987:Spg20 UTSW 3 55126541 missense probably benign 0.00
R6142:Spg20 UTSW 3 55117248 missense probably damaging 1.00
R6185:Spg20 UTSW 3 55117219 missense probably damaging 1.00
R6652:Spg20 UTSW 3 55124827 missense probably benign 0.00
R6791:Spg20 UTSW 3 55127561 missense probably damaging 1.00
R7131:Spg20 UTSW 3 55121799 critical splice donor site probably null
R7930:Spg20 UTSW 3 55128276 missense probably damaging 1.00
R8005:Spg20 UTSW 3 55117352 missense probably benign 0.00
RF009:Spg20 UTSW 3 55127606 missense probably benign 0.00
X0018:Spg20 UTSW 3 55135499 missense probably damaging 1.00
Posted On2016-08-02