Incidental Mutation 'R2321:Tasp1'
ID 245625
Institutional Source Beutler Lab
Gene Symbol Tasp1
Ensembl Gene ENSMUSG00000039033
Gene Name taspase, threonine aspartase 1
Synonyms 4930485D02Rik
MMRRC Submission 040313-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R2321 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 139675400-139908725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139899332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 7 (M7T)
Ref Sequence ENSEMBL: ENSMUSP00000096907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046656] [ENSMUST00000099304] [ENSMUST00000110079]
AlphaFold Q8R1G1
Predicted Effect probably benign
Transcript: ENSMUST00000046656
AA Change: M7T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000039546
Gene: ENSMUSG00000039033
AA Change: M7T

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: M7T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000096907
Gene: ENSMUSG00000039033
AA Change: M7T

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: M7T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000105706
Gene: ENSMUSG00000039033
AA Change: M7T

DomainStartEndE-ValueType
Pfam:Asparaginase_2 42 348 1.3e-62 PFAM
Meta Mutation Damage Score 0.0686 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (39/39)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Abcf2 A T 5: 24,772,251 (GRCm39) Y492* probably null Het
Adcy9 A G 16: 4,106,132 (GRCm39) V994A probably damaging Het
Arhgef40 T C 14: 52,231,733 (GRCm39) probably benign Het
Bhlha15 T C 5: 144,128,014 (GRCm39) L42P probably damaging Het
Clca4b C A 3: 144,638,134 (GRCm39) A43S probably benign Het
Cpq A G 15: 33,594,291 (GRCm39) H434R probably benign Het
Crybg2 A G 4: 133,801,822 (GRCm39) E994G probably benign Het
Dcaf1 T C 9: 106,715,672 (GRCm39) L263S probably benign Het
Dnajc12 G T 10: 63,242,990 (GRCm39) probably benign Het
Fbxo32 T C 15: 58,054,689 (GRCm39) I215V possibly damaging Het
Krtap17-1 T C 11: 99,884,746 (GRCm39) D7G unknown Het
Men1 A G 19: 6,389,868 (GRCm39) D466G possibly damaging Het
Myh15 T A 16: 48,933,436 (GRCm39) F624I possibly damaging Het
Ncam1 A C 9: 49,456,132 (GRCm39) probably benign Het
Or2y1d A G 11: 49,322,107 (GRCm39) N268S probably benign Het
Otol1 T A 3: 69,925,858 (GRCm39) L11* probably null Het
Plekhg4 T C 8: 106,104,172 (GRCm39) S447P probably benign Het
Pnma8b G T 7: 16,679,490 (GRCm39) R158L unknown Het
Ppp1r2 A T 16: 31,084,121 (GRCm39) probably null Het
Rad51ap2 G A 12: 11,507,058 (GRCm39) G327R probably damaging Het
Rbm26 T C 14: 105,390,863 (GRCm39) T208A unknown Het
Reln T C 5: 22,120,018 (GRCm39) Y2878C probably damaging Het
Rnps1 T A 17: 24,641,142 (GRCm39) F181I probably damaging Het
Senp6 A C 9: 80,031,022 (GRCm39) I575L possibly damaging Het
Serpinh1 T C 7: 98,995,592 (GRCm39) D330G probably damaging Het
Slamf9 G T 1: 172,304,980 (GRCm39) C198F probably damaging Het
Slc22a13 A T 9: 119,024,694 (GRCm39) V261D possibly damaging Het
Slc26a4 A G 12: 31,590,543 (GRCm39) V370A probably damaging Het
Tet2 T C 3: 133,192,100 (GRCm39) N778S possibly damaging Het
Tm9sf4 T A 2: 153,046,506 (GRCm39) Y582N probably damaging Het
Tmem131l T A 3: 83,843,330 (GRCm39) H508L probably damaging Het
Tmem71 T G 15: 66,423,849 (GRCm39) D139A possibly damaging Het
Uroc1 A G 6: 90,324,229 (GRCm39) R418G possibly damaging Het
Wdr64 A C 1: 175,622,653 (GRCm39) K810T possibly damaging Het
Zgrf1 C A 3: 127,356,056 (GRCm39) Y427* probably null Het
Other mutations in Tasp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Tasp1 APN 2 139,819,538 (GRCm39) missense probably damaging 1.00
IGL01476:Tasp1 APN 2 139,850,693 (GRCm39) missense probably benign 0.01
IGL02876:Tasp1 APN 2 139,676,283 (GRCm39) missense probably benign 0.45
PIT4449001:Tasp1 UTSW 2 139,752,455 (GRCm39) missense possibly damaging 0.67
R0352:Tasp1 UTSW 2 139,793,378 (GRCm39) critical splice donor site probably null
R0381:Tasp1 UTSW 2 139,793,403 (GRCm39) missense probably damaging 1.00
R1056:Tasp1 UTSW 2 139,850,684 (GRCm39) missense possibly damaging 0.94
R1350:Tasp1 UTSW 2 139,899,341 (GRCm39) missense probably damaging 1.00
R1836:Tasp1 UTSW 2 139,793,477 (GRCm39) missense probably damaging 1.00
R2005:Tasp1 UTSW 2 139,819,598 (GRCm39) missense probably damaging 1.00
R2129:Tasp1 UTSW 2 139,890,164 (GRCm39) missense possibly damaging 0.75
R2259:Tasp1 UTSW 2 139,793,426 (GRCm39) missense probably damaging 1.00
R3700:Tasp1 UTSW 2 139,752,474 (GRCm39) missense probably benign 0.00
R3842:Tasp1 UTSW 2 139,793,421 (GRCm39) missense probably damaging 1.00
R5526:Tasp1 UTSW 2 139,850,709 (GRCm39) missense probably damaging 1.00
R5724:Tasp1 UTSW 2 139,899,339 (GRCm39) missense probably damaging 0.99
R6345:Tasp1 UTSW 2 139,793,457 (GRCm39) missense probably damaging 1.00
R6533:Tasp1 UTSW 2 139,676,277 (GRCm39) makesense probably null
R7723:Tasp1 UTSW 2 139,827,051 (GRCm39) missense probably damaging 1.00
R7796:Tasp1 UTSW 2 139,850,705 (GRCm39) missense probably damaging 0.98
R9096:Tasp1 UTSW 2 139,725,690 (GRCm39) critical splice donor site probably null
R9097:Tasp1 UTSW 2 139,725,690 (GRCm39) critical splice donor site probably null
R9153:Tasp1 UTSW 2 139,899,327 (GRCm39) missense probably damaging 1.00
R9598:Tasp1 UTSW 2 139,819,567 (GRCm39) missense probably benign
R9797:Tasp1 UTSW 2 139,838,015 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- AGTCCTCAGTGTTGTTCAAAGC -3'
(R):5'- GTTGCTGGACAGAGATTTAACTTG -3'

Sequencing Primer
(F):5'- CTCAGTGTTGTTCAAAGCAAGAAAAG -3'
(R):5'- GCTGGACAGAGATTTAACTTGTAAAC -3'
Posted On 2014-10-30