Incidental Mutation 'IGL02345:Spg20'
ID289244
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? Possibly non essential (E-score: 0.322) question?
Stock #IGL02345
Quality Score
Status
Chromosome3
Chromosomal Location55112108-55137322 bp(+) (GRCm38)
Type of Mutationunclassified (465 bp from exon)
DNA Base Change (assembly) T to A at 55117726 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044116] [ENSMUST00000107971] [ENSMUST00000117341] [ENSMUST00000118118] [ENSMUST00000146109] [ENSMUST00000149767]
Predicted Effect probably null
Transcript: ENSMUST00000044116
AA Change: Y247*
SMART Domains Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
AA Change: Y247*

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 null
Transcript: ENSMUST00000107971
AA Change: Y247*
SMART Domains Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580
AA Change: Y247*

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 null
Transcript: ENSMUST00000117341
AA Change: Y247*
SMART Domains Protein: ENSMUSP00000113968
Gene: ENSMUSG00000036580
AA Change: Y247*

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 null
Transcript: ENSMUST00000118118
AA Change: Y247*
SMART Domains Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
AA Change: Y247*

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 probably null
Transcript: ENSMUST00000146109
SMART Domains Protein: ENSMUSP00000121683
Gene: ENSMUSG00000036580

DomainStartEndE-ValueType
MIT 16 94 4.64e-18 SMART
Predicted Effect probably null
Transcript: ENSMUST00000149767
SMART Domains Protein: ENSMUSP00000119719
Gene: ENSMUSG00000036580

DomainStartEndE-ValueType
MIT 16 92 6.83e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199416
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200658
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G T 16: 14,396,351 D177Y possibly damaging Het
Casc3 T C 11: 98,827,564 probably benign Het
Cnga1 C T 5: 72,605,272 V300I probably benign Het
Dcun1d4 A G 5: 73,511,152 D41G probably damaging Het
Dnm1l T C 16: 16,329,894 S181G possibly damaging Het
Dyrk1a T G 16: 94,671,362 S242A possibly damaging Het
Fcgbp T A 7: 28,071,643 probably benign Het
Fibcd1 T C 2: 31,816,592 Y409C probably damaging Het
Fig4 A T 10: 41,267,774 W230R probably null Het
Flt1 T C 5: 147,582,626 S960G probably benign Het
Fyb A G 15: 6,619,662 S390G possibly damaging Het
Gbx2 T C 1: 89,928,976 T231A probably benign Het
Gm16432 G A 1: 178,015,188 V60I possibly damaging Het
Gm5852 T A 3: 93,727,748 noncoding transcript Het
Lmo7 T C 14: 101,887,473 V456A probably damaging Het
Mark3 A G 12: 111,627,107 N191S probably damaging Het
Olfr871 C A 9: 20,213,018 S223Y possibly damaging Het
Pik3c2a C T 7: 116,405,891 E381K probably damaging Het
Pik3r5 A G 11: 68,492,726 D457G probably benign Het
Plcg2 T C 8: 117,585,180 S404P probably damaging Het
Prr16 T C 18: 51,303,229 F260S probably damaging Het
Psd4 T C 2: 24,401,823 probably null Het
Ptgs1 A G 2: 36,242,971 D327G probably null Het
Rgsl1 C T 1: 153,804,009 probably null Het
Sugp1 A G 8: 70,043,084 probably benign Het
Tubgcp3 A T 8: 12,625,056 I713N probably damaging Het
Usp19 A G 9: 108,493,858 T240A probably benign Het
Vash2 A G 1: 190,978,215 V81A probably benign Het
Vmn2r41 T G 7: 8,138,768 N566H probably damaging Het
Wdr31 A G 4: 62,458,846 I42T possibly damaging Het
Zfp292 C T 4: 34,809,244 V1272I possibly damaging Het
Zfp638 C T 6: 83,984,875 R1899C probably damaging 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
IGL03217:Spg20 APN 3 55128491 splice site probably benign
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 On2015-04-16