Incidental Mutation 'R5526:Tasp1'
ID 431843
Institutional Source Beutler Lab
Gene Symbol Tasp1
Ensembl Gene ENSMUSG00000039033
Gene Name taspase, threonine aspartase 1
Synonyms 4930485D02Rik
MMRRC Submission 043084-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R5526 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 139675400-139908725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 139850709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 105 (S105T)
Ref Sequence ENSEMBL: ENSMUSP00000105706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046656] [ENSMUST00000099304] [ENSMUST00000110079]
AlphaFold Q8R1G1
Predicted Effect probably damaging
Transcript: ENSMUST00000046656
AA Change: S105T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039546
Gene: ENSMUSG00000039033
AA Change: S105T

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: S105T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096907
Gene: ENSMUSG00000039033
AA Change: S105T

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: S105T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105706
Gene: ENSMUSG00000039033
AA Change: S105T

DomainStartEndE-ValueType
Pfam:Asparaginase_2 42 348 1.3e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124949
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.7%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,331,605 (GRCm39) M1315K probably benign Het
Abcc4 C T 14: 118,868,449 (GRCm39) V168I probably benign Het
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Agbl5 G A 5: 31,051,247 (GRCm39) probably null Het
Angpt1 A G 15: 42,375,737 (GRCm39) L173P probably damaging Het
Crls1 T A 2: 132,703,165 (GRCm39) M205K possibly damaging Het
Cspg4b T C 13: 113,504,427 (GRCm39) V1852A probably benign Het
Dhtkd1 A T 2: 5,916,662 (GRCm39) N671K probably damaging Het
Dmbt1 A T 7: 130,642,920 (GRCm39) D246V probably damaging Het
Dolk G A 2: 30,175,820 (GRCm39) A75V probably damaging Het
Dtna T A 18: 23,779,287 (GRCm39) V623E probably damaging Het
Elavl3 T C 9: 21,947,622 (GRCm39) T106A probably benign Het
Ergic1 T C 17: 26,843,652 (GRCm39) C41R probably damaging Het
Fat2 T A 11: 55,160,187 (GRCm39) I3309F possibly damaging Het
Fbn1 C A 2: 125,207,559 (GRCm39) R978L possibly damaging Het
Fzd6 A T 15: 38,894,559 (GRCm39) S242C possibly damaging Het
Galntl6 T A 8: 58,926,004 (GRCm39) H87L probably benign Het
Gatad2a T C 8: 70,388,591 (GRCm39) E32G probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm11541 G T 11: 94,594,944 (GRCm39) H41Q unknown Het
Has3 A G 8: 107,600,579 (GRCm39) T14A probably damaging Het
Kmt2b A G 7: 30,279,869 (GRCm39) L1377P probably damaging Het
Lcorl T C 5: 45,891,069 (GRCm39) N428S probably benign Het
Lipo5 A T 19: 33,445,284 (GRCm39) V95D unknown Het
Lrp1 A T 10: 127,391,593 (GRCm39) V2942D probably benign Het
Map1a T C 2: 121,136,143 (GRCm39) S2082P probably damaging Het
Mast4 T C 13: 102,890,723 (GRCm39) S852G possibly damaging Het
Mlh3 A T 12: 85,316,147 (GRCm39) L13* probably null Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nlrp9c T A 7: 26,081,791 (GRCm39) N645I possibly damaging Het
Or12d17 T A 17: 37,778,003 (GRCm39) L302Q unknown Het
Or12e7 T C 2: 87,288,109 (GRCm39) I200T probably benign Het
Or14j7 T A 17: 38,235,383 (GRCm39) *309K probably null Het
Or7e166 C A 9: 19,624,994 (GRCm39) Y290* probably null Het
Or8g52 A T 9: 39,630,892 (GRCm39) Y123F possibly damaging Het
Pex12 A G 11: 83,187,090 (GRCm39) V286A possibly damaging Het
Phax C T 18: 56,717,382 (GRCm39) T275I probably damaging Het
Phf21b A G 15: 84,676,006 (GRCm39) V335A probably benign Het
Psg18 A T 7: 18,083,273 (GRCm39) L173H probably damaging Het
Rab3ip T C 10: 116,754,834 (GRCm39) T209A possibly damaging Het
Ralgapb T C 2: 158,274,705 (GRCm39) V202A probably damaging Het
Rpn2 T C 2: 157,165,187 (GRCm39) L611P probably damaging Het
Runx2 T G 17: 45,035,749 (GRCm39) T148P probably damaging Het
Sbpl C A 17: 24,173,623 (GRCm39) D50Y probably damaging Het
Scn5a G A 9: 119,350,237 (GRCm39) P879L probably damaging Het
Sfn T C 4: 133,328,915 (GRCm39) R56G probably damaging Het
Spata31g1 T C 4: 42,972,125 (GRCm39) V486A possibly damaging Het
Tas2r138 C T 6: 40,589,914 (GRCm39) A111T probably benign Het
Tmem225 T G 9: 40,062,002 (GRCm39) H205Q possibly damaging Het
Tmprss7 A G 16: 45,481,267 (GRCm39) S640P probably damaging Het
Utp4 G A 8: 107,644,265 (GRCm39) A535T possibly damaging Het
Vmn1r203 A T 13: 22,708,273 (GRCm39) D18V probably benign Het
Vmn2r58 A G 7: 41,522,069 (GRCm39) L9P probably benign Het
Zcchc2 T A 1: 105,957,984 (GRCm39) C420* probably null Het
Zfp804a A G 2: 82,088,934 (GRCm39) D921G 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
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'- TGAGCTACATCCCTAACACTGG -3'
(R):5'- GTCACTAGAGAAGGACTGGC -3'

Sequencing Primer
(F):5'- AGAGGGTTTGTTTCAACATTCC -3'
(R):5'- TCACTAGAGAAGGACTGGCATTTC -3'
Posted On 2016-10-05