Incidental Mutation 'R7796:Tasp1'
ID 600210
Institutional Source Beutler Lab
Gene Symbol Tasp1
Ensembl Gene ENSMUSG00000039033
Gene Name taspase, threonine aspartase 1
Synonyms 4930485D02Rik
MMRRC Submission 045852-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R7796 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 139675400-139908725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139850705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 106 (N106S)
Ref Sequence ENSEMBL: ENSMUSP00000039546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046656] [ENSMUST00000099304] [ENSMUST00000110079]
AlphaFold Q8R1G1
Predicted Effect probably damaging
Transcript: ENSMUST00000046656
AA Change: N106S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039546
Gene: ENSMUSG00000039033
AA Change: N106S

DomainStartEndE-ValueType
Pfam:Asparaginase_2 42 346 1.1e-50 PFAM
low complexity region 347 358 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099304
AA Change: N106S

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096907
Gene: ENSMUSG00000039033
AA Change: N106S

DomainStartEndE-ValueType
Pfam:Asparaginase_2 42 286 1.1e-46 PFAM
low complexity region 310 321 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110079
AA Change: N106S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105706
Gene: ENSMUSG00000039033
AA Change: N106S

DomainStartEndE-ValueType
Pfam:Asparaginase_2 42 348 1.3e-62 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (54/54)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630089N07Rik T A 16: 97,867,024 (GRCm39) I313F probably benign Het
Acot2 T A 12: 84,035,257 (GRCm39) probably null Het
Agbl4 G T 4: 110,518,165 (GRCm39) G152V unknown Het
Arap2 A G 5: 62,888,105 (GRCm39) S414P probably damaging Het
Cep85l A C 10: 53,157,497 (GRCm39) N735K probably damaging Het
Col12a1 T C 9: 79,585,833 (GRCm39) S1209G possibly damaging Het
Dennd1b G A 1: 138,990,611 (GRCm39) E192K probably damaging Het
Dpf1 C G 7: 29,011,106 (GRCm39) N168K possibly damaging Het
Dync1li2 T A 8: 105,157,181 (GRCm39) Y184F probably damaging Het
Epb41l2 A G 10: 25,319,727 (GRCm39) T187A probably benign Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fndc3b G A 3: 27,515,892 (GRCm39) T638I probably benign Het
Gm11564 A G 11: 99,706,424 (GRCm39) V2A unknown Het
Gm3159 A G 14: 4,400,560 (GRCm38) *206W probably null Het
Gm32742 A G 9: 51,071,123 (GRCm39) probably null Het
Gm4847 G A 1: 166,469,819 (GRCm39) H85Y probably damaging Het
Gprc5c A T 11: 114,755,358 (GRCm39) D345V probably damaging Het
Kalrn A T 16: 34,007,854 (GRCm39) Y1363* probably null Het
Kdm5a T C 6: 120,367,724 (GRCm39) V473A probably damaging Het
Kidins220 T C 12: 25,032,350 (GRCm39) C28R probably damaging Het
Klhl5 T C 5: 65,321,965 (GRCm39) Y664H probably damaging Het
Krt17 A G 11: 100,151,698 (GRCm39) S32P probably benign Het
Krt87 A G 15: 101,383,865 (GRCm39) V424A possibly damaging Het
Lipo3 T C 19: 33,759,634 (GRCm39) T201A possibly damaging Het
Map2 A G 1: 66,455,654 (GRCm39) probably null Het
Megf10 C A 18: 57,410,731 (GRCm39) T680N possibly damaging Het
Metap1d T A 2: 71,342,506 (GRCm39) D178E probably damaging Het
Miip C T 4: 147,947,375 (GRCm39) G236S probably benign Het
Mki67 A G 7: 135,299,923 (GRCm39) S1704P probably damaging Het
Nr2f2 A G 7: 70,007,901 (GRCm39) S194P probably benign Het
Nrsn2 T A 2: 152,218,471 (GRCm39) probably benign Het
Ociad1 C T 5: 73,452,290 (GRCm39) P27L probably damaging Het
Or13p5 T A 4: 118,591,882 (GRCm39) I52N probably damaging Het
Or4a39 T A 2: 89,237,157 (GRCm39) T89S possibly damaging Het
Patj A T 4: 98,435,220 (GRCm39) M1L probably benign Het
Pcdhb2 A G 18: 37,428,446 (GRCm39) I140V possibly damaging Het
Pla2g6 T C 15: 79,202,025 (GRCm39) N49D probably benign Het
Pramel22 T A 4: 143,380,727 (GRCm39) D432V possibly damaging Het
Pxdc1 T A 13: 34,836,354 (GRCm39) N22I probably damaging Het
Rpgrip1l A G 8: 91,996,865 (GRCm39) Y672H probably damaging Het
Rps23rg1 T C 8: 3,634,160 (GRCm39) V111A probably benign Het
Safb2 T C 17: 56,873,327 (GRCm39) R779G possibly damaging Het
Skic2 C T 17: 35,063,394 (GRCm39) G628S probably damaging Het
Smg5 A T 3: 88,256,739 (GRCm39) Q299L probably damaging Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Sulf1 T C 1: 12,929,044 (GRCm39) L864S probably benign Het
Tas1r1 A G 4: 152,119,212 (GRCm39) V119A probably benign Het
Tcf4 T A 18: 69,697,140 (GRCm39) N156K probably benign Het
Trav14n-3 T A 14: 53,607,827 (GRCm39) Y52* probably null Het
Ttn T C 2: 76,665,222 (GRCm39) E11598G unknown Het
Unc80 A G 1: 66,542,873 (GRCm39) I376V probably benign Het
Ybx3 T C 6: 131,345,479 (GRCm39) E298G probably damaging Het
Yipf7 T C 5: 69,684,596 (GRCm39) Y73C possibly damaging Het
Zdbf2 G A 1: 63,342,583 (GRCm39) A321T possibly damaging Het
Zfp369 A G 13: 65,444,029 (GRCm39) R391G probably benign Het
Zfp54 A G 17: 21,654,982 (GRCm39) E492G probably damaging Het
Zfp971 A G 2: 177,673,403 (GRCm39) T51A probably benign 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
R2321:Tasp1 UTSW 2 139,899,332 (GRCm39) missense probably benign 0.05
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
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'- GAGCTACATCCCTAACACTGGC -3'
(R):5'- TGTCACTAGAGAAGGACTGGC -3'

Sequencing Primer
(F):5'- AGAGGGTTTGTTTCAACATTCC -3'
(R):5'- TGTCACTAGAGAAGGACTGGCATTTC -3'
Posted On 2019-11-26