Incidental Mutation 'IGL01476:Tasp1'
ID88458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tasp1
Ensembl Gene ENSMUSG00000039033
Gene Nametaspase, threonine aspartase 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.454) question?
Stock #IGL01476
Quality Score
Status
Chromosome2
Chromosomal Location139833480-140066805 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 140008773 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 110 (L110S)
Ref Sequence ENSEMBL: ENSMUSP00000096907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046656] [ENSMUST00000099304] [ENSMUST00000110079]
Predicted Effect probably benign
Transcript: ENSMUST00000046656
AA Change: L110S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000039546
Gene: ENSMUSG00000039033
AA Change: L110S

DomainStartEndE-ValueType
Pfam:Asparaginase_2 42 346 1.1e-50 PFAM
low complexity region 347 358 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099304
AA Change: L110S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000096907
Gene: ENSMUSG00000039033
AA Change: L110S

DomainStartEndE-ValueType
Pfam:Asparaginase_2 42 286 1.1e-46 PFAM
low complexity region 310 321 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110079
AA Change: L110S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105706
Gene: ENSMUSG00000039033
AA Change: L110S

DomainStartEndE-ValueType
Pfam:Asparaginase_2 42 348 1.3e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124949
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 an endopeptidase that cleaves specific substrates following aspartate residues. The encoded protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which reassemble into the active alpha2-beta2 heterotetramer. It is required to cleave MLL, a protein required for the maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display prenatal and early postnatal lethality, reduced body size, impaired suckling behavior, homeotic transformations of the axial skeleton, and cell cycle defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Abcc10 A G 17: 46,327,937 probably benign Het
Atp13a2 G A 4: 141,000,770 C558Y probably damaging Het
BC017643 T C 11: 121,225,845 Y86C probably damaging Het
Btbd1 G A 7: 81,801,049 R328* probably null Het
Cdk8 A G 5: 146,295,163 probably null Het
Chd8 A T 14: 52,205,490 N534K probably benign Het
Dlgap2 C T 8: 14,778,301 R570* probably null Het
Eri2 A C 7: 119,790,249 F149V probably damaging Het
Esyt1 A G 10: 128,511,494 M1054T probably damaging Het
Gcm2 A G 13: 41,105,741 V84A probably damaging Het
Gm597 A T 1: 28,777,453 H499Q probably benign Het
Got1 A C 19: 43,524,409 V16G probably damaging Het
Itga9 C T 9: 118,607,111 R62C probably damaging Het
Kif21a T C 15: 90,943,864 R1232G possibly damaging Het
Map1a A G 2: 121,305,207 Y1930C probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr384 T C 11: 73,603,230 S217P probably damaging Het
Olfr701 G A 7: 106,818,620 C179Y probably damaging Het
Pclo A G 5: 14,521,108 K169R probably damaging Het
Rnf169 A C 7: 99,955,484 Y174D probably damaging Het
Sarm1 T C 11: 78,490,811 E282G probably damaging Het
Sec24a A G 11: 51,708,956 S840P possibly damaging Het
Skor2 A T 18: 76,858,667 Q28L unknown Het
Slc35f2 T C 9: 53,806,706 V168A possibly damaging Het
Slc6a7 A T 18: 61,005,773 L221Q probably damaging Het
Syt4 A T 18: 31,441,643 V307E probably damaging Het
Thnsl1 T A 2: 21,212,159 D241E probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tpbpb A T 13: 60,902,134 D60E probably benign Het
Trip11 T C 12: 101,898,911 I168V probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Wscd2 A G 5: 113,572,321 D302G probably damaging Het
Other mutations in Tasp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Tasp1 APN 2 139977618 missense probably damaging 1.00
IGL02876:Tasp1 APN 2 139834363 missense probably benign 0.45
PIT4449001:Tasp1 UTSW 2 139910535 missense possibly damaging 0.67
R0352:Tasp1 UTSW 2 139951458 critical splice donor site probably null
R0381:Tasp1 UTSW 2 139951483 missense probably damaging 1.00
R1056:Tasp1 UTSW 2 140008764 missense possibly damaging 0.94
R1350:Tasp1 UTSW 2 140057421 missense probably damaging 1.00
R1836:Tasp1 UTSW 2 139951557 missense probably damaging 1.00
R2005:Tasp1 UTSW 2 139977678 missense probably damaging 1.00
R2129:Tasp1 UTSW 2 140048244 missense possibly damaging 0.75
R2259:Tasp1 UTSW 2 139951506 missense probably damaging 1.00
R2321:Tasp1 UTSW 2 140057412 missense probably benign 0.05
R3700:Tasp1 UTSW 2 139910554 missense probably benign 0.00
R3842:Tasp1 UTSW 2 139951501 missense probably damaging 1.00
R5526:Tasp1 UTSW 2 140008789 missense probably damaging 1.00
R5724:Tasp1 UTSW 2 140057419 missense probably damaging 0.99
R6345:Tasp1 UTSW 2 139951537 missense probably damaging 1.00
R6533:Tasp1 UTSW 2 139834357 makesense probably null
R7723:Tasp1 UTSW 2 139985131 missense probably damaging 1.00
Posted On2013-11-18