Incidental Mutation 'IGL01539:Spg20'
ID90095
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: 0.264) question?
Stock #IGL01539
Quality Score
Status
Chromosome3
Chromosomal Location55112108-55137322 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55117302 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 106 (D106G)
Ref Sequence ENSEMBL: ENSMUSP00000113621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044116] [ENSMUST00000107971] [ENSMUST00000117341] [ENSMUST00000118118] [ENSMUST00000146109] [ENSMUST00000149767]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044116
AA Change: D106G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
AA Change: D106G

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 possibly damaging
Transcript: ENSMUST00000107971
AA Change: D106G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580
AA Change: D106G

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 possibly damaging
Transcript: ENSMUST00000117341
AA Change: D106G

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113968
Gene: ENSMUSG00000036580
AA Change: D106G

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 possibly damaging
Transcript: ENSMUST00000118118
AA Change: D106G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
AA Change: D106G

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 benign
Transcript: ENSMUST00000146109
AA Change: D106G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121683
Gene: ENSMUSG00000036580
AA Change: D106G

DomainStartEndE-ValueType
MIT 16 94 4.64e-18 SMART
Predicted Effect probably benign
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca4b T A 3: 144,926,157 M196L probably benign Het
Cyp4a14 T C 4: 115,487,177 N497S possibly damaging Het
Eif3b T C 5: 140,430,253 probably benign Het
Gm5724 A G 6: 141,727,607 S402P possibly damaging Het
Grin2c T C 11: 115,250,106 Q1062R probably benign Het
Ina A G 19: 47,015,464 E237G probably damaging Het
Lmx1b T C 2: 33,639,498 D83G possibly damaging Het
Macf1 A G 4: 123,395,908 probably benign Het
Muc6 T A 7: 141,650,041 M406L probably benign Het
Myo15b T C 11: 115,863,473 I933T probably benign Het
Olfr1226 A G 2: 89,193,492 F181L possibly damaging Het
Olfr773 T C 10: 129,186,935 N162S probably benign Het
Pde1b A T 15: 103,525,345 probably benign Het
Rab29 G A 1: 131,870,707 R75Q probably damaging Het
Scn10a A T 9: 119,638,698 I792N probably damaging Het
Serpinb6a A T 13: 33,930,134 V70D probably damaging Het
Sucla2 A G 14: 73,591,121 E359G probably damaging Het
Sycp2 T C 2: 178,374,695 Y658C probably damaging Het
Tenm2 T A 11: 36,106,827 T811S possibly damaging Het
Trim66 C A 7: 109,455,066 M1312I probably benign Het
Tspan18 A G 2: 93,210,853 S135P probably damaging Het
Ube2j1 T C 4: 33,043,993 probably benign Het
Ubr1 A C 2: 120,926,013 V711G possibly damaging Het
Veph1 T C 3: 66,158,075 T524A probably benign Het
Vmn1r222 A T 13: 23,232,889 F51L probably benign Het
Vwf G T 6: 125,590,262 V338L possibly damaging Het
Zfp770 G T 2: 114,197,093 A165E probably damaging Het
Other mutations in Spg20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Spg20 APN 3 55121756 missense probably damaging 1.00
IGL01982:Spg20 APN 3 55128490 splice site probably null
IGL02345:Spg20 APN 3 55117726 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
R8458:Spg20 UTSW 3 55124894 missense probably damaging 1.00
R8734:Spg20 UTSW 3 55124879 missense possibly damaging 0.92
R8791:Spg20 UTSW 3 55121679 missense probably benign 0.19
RF009:Spg20 UTSW 3 55127606 missense probably benign 0.00
X0018:Spg20 UTSW 3 55135499 missense probably damaging 1.00
Posted On2013-12-03