Incidental Mutation 'IGL02876:Tasp1'
ID406220
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 #IGL02876
Quality Score
Status
Chromosome2
Chromosomal Location139833480-140066805 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 139834363 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 382 (V382M)
Ref Sequence ENSEMBL: ENSMUSP00000096907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046656] [ENSMUST00000099304] [ENSMUST00000110079]
Predicted Effect probably benign
Transcript: ENSMUST00000046656
AA Change: V419M

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000039546
Gene: ENSMUSG00000039033
AA Change: V419M

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: V382M

PolyPhen 2 Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096907
Gene: ENSMUSG00000039033
AA Change: V382M

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: V419M

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105706
Gene: ENSMUSG00000039033
AA Change: V419M

DomainStartEndE-ValueType
Pfam:Asparaginase_2 42 348 1.3e-62 PFAM
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,919,841 V564A probably damaging Het
Adamts15 A T 9: 30,904,522 N679K probably damaging Het
Angpt1 T G 15: 42,426,977 D497A possibly damaging Het
Asap2 A G 12: 21,258,163 K849R probably benign Het
Aspm T C 1: 139,473,653 V1137A probably damaging Het
Atp12a A G 14: 56,373,289 I297V probably benign Het
Atp2a2 A G 5: 122,466,008 V454A probably benign Het
Carmil1 T A 13: 24,154,668 probably benign Het
Csmd2 A T 4: 128,321,335 K517* probably null Het
Csmd3 A T 15: 47,606,096 probably benign Het
Cyp2d11 T A 15: 82,389,496 Q427L possibly damaging Het
Eml5 C T 12: 98,858,841 V706M probably damaging Het
Entpd8 A C 2: 25,085,060 S428R probably benign Het
Gm10283 T C 8: 60,501,219 probably benign Het
Gm13124 A G 4: 144,555,773 Y150H probably damaging Het
Gpatch3 T A 4: 133,580,684 V363E probably damaging Het
Hoxb5 T A 11: 96,303,768 M52K probably damaging Het
Ift52 T C 2: 163,036,707 V307A probably benign Het
Igkv1-115 T C 6: 68,161,440 noncoding transcript Het
Kdm5a T C 6: 120,390,644 probably benign Het
Lama1 T A 17: 67,750,692 probably null Het
Lrp6 G A 6: 134,456,114 P1418L probably benign Het
Mill2 T C 7: 18,856,507 F156L probably damaging Het
Mnat1 A G 12: 73,170,604 R85G probably damaging Het
Myrip A T 9: 120,432,674 D451V probably damaging Het
Olfr397 A T 11: 73,964,713 Y35F possibly damaging Het
Pdzph1 C A 17: 58,974,069 S406I probably benign Het
Ptprb A G 10: 116,348,211 probably benign Het
Rxfp4 T A 3: 88,652,435 R236S possibly damaging Het
Ryr2 T C 13: 11,707,793 M2604V probably benign Het
Setd1a G A 7: 127,778,501 probably benign Het
Spata33 A T 8: 123,221,980 H88L probably damaging Het
Spcs3 A T 8: 54,526,451 N98K probably damaging Het
Srgap3 A G 6: 112,771,453 S413P probably damaging Het
Stap2 T C 17: 55,999,961 R239G probably benign Het
Surf6 A G 2: 26,892,626 Y230H probably damaging Het
Tnc G T 4: 64,015,101 A642E possibly damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r110 T A 17: 20,574,296 T704S probably damaging Het
Vtcn1 A T 3: 100,883,829 D61V probably damaging Het
Zc3h12d G A 10: 7,862,600 M223I probably damaging Het
Zfp592 T A 7: 81,038,127 S934T probably benign Het
Other mutations in Tasp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Tasp1 APN 2 139977618 missense probably damaging 1.00
IGL01476:Tasp1 APN 2 140008773 missense probably benign 0.01
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 On2016-08-02