Incidental Mutation 'R5724:Tasp1'
ID 452360
Institutional Source Beutler Lab
Gene Symbol Tasp1
Ensembl Gene ENSMUSG00000039033
Gene Name taspase, threonine aspartase 1
Synonyms 4930485D02Rik
MMRRC Submission 043342-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R5724 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 139675400-139908725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139899339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 5 (K5E)
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: K5E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039546
Gene: ENSMUSG00000039033
AA Change: K5E

DomainStartEndE-ValueType
Pfam:Asparaginase_2 42 346 1.1e-50 PFAM
low complexity region 347 358 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000099304
AA Change: K5E

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096907
Gene: ENSMUSG00000039033
AA Change: K5E

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: K5E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105706
Gene: ENSMUSG00000039033
AA Change: K5E

DomainStartEndE-ValueType
Pfam:Asparaginase_2 42 348 1.3e-62 PFAM
Meta Mutation Damage Score 0.0769 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 100% (62/62)
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
3830408C21Rik A T 13: 107,168,905 (GRCm39) noncoding transcript Het
Adam5 T A 8: 25,294,511 (GRCm39) K363* probably null Het
Adamts12 T C 15: 11,286,836 (GRCm39) Y814H probably benign Het
Adar G T 3: 89,642,476 (GRCm39) G119V probably benign Het
Adprs G T 4: 126,211,869 (GRCm39) Q148K probably damaging Het
Atr G T 9: 95,748,641 (GRCm39) L395F probably damaging Het
Bahcc1 A G 11: 120,176,192 (GRCm39) I1946V possibly damaging Het
Bend4 T A 5: 67,575,284 (GRCm39) D199V probably damaging Het
Bpifb1 C A 2: 154,046,712 (GRCm39) H77Q probably benign Het
Clca3a1 T C 3: 144,714,833 (GRCm39) T595A probably benign Het
Crebbp A T 16: 3,905,499 (GRCm39) probably benign Het
Cxcl16 T C 11: 70,349,990 (GRCm39) D12G probably damaging Het
Dnah10 T C 5: 124,819,090 (GRCm39) W459R probably benign Het
Dock8 T C 19: 25,099,785 (GRCm39) L636P probably damaging Het
Eif2ak3 A G 6: 70,853,824 (GRCm39) T197A probably benign Het
Fbxo40 T A 16: 36,790,692 (GRCm39) R139S probably benign Het
Fer C A 17: 64,231,152 (GRCm39) T301K probably damaging Het
Fgf21 A T 7: 45,264,729 (GRCm39) M1K probably null Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Gm38706 A T 6: 130,459,963 (GRCm39) noncoding transcript Het
H2-Q6 A C 17: 35,644,628 (GRCm39) Y139S probably damaging Het
Ift70a2 T C 2: 75,808,074 (GRCm39) D146G probably benign Het
Igkv4-53 A T 6: 69,625,991 (GRCm39) Y59N probably damaging Het
Jrkl T C 9: 13,244,891 (GRCm39) M257V possibly damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Klhl26 T A 8: 70,904,404 (GRCm39) Y468F probably damaging Het
Lamb2 T A 9: 108,357,950 (GRCm39) probably null Het
Lcp1 A G 14: 75,464,422 (GRCm39) T548A probably benign Het
Lct T A 1: 128,228,073 (GRCm39) Q1140L probably benign Het
Lrp2 T G 2: 69,281,726 (GRCm39) N3882H probably damaging Het
Magi1 A G 6: 93,657,852 (GRCm39) I1126T probably benign Het
Magi1 A G 6: 93,722,682 (GRCm39) S399P probably damaging Het
Med16 A G 10: 79,731,243 (GRCm39) C825R probably damaging Het
Mtx3 C T 13: 92,984,095 (GRCm39) P124L probably damaging Het
Nabp2 C T 10: 128,245,555 (GRCm39) probably benign Het
Or5b113 T A 19: 13,342,515 (GRCm39) H174Q possibly damaging Het
Pak4 A T 7: 28,264,005 (GRCm39) S244T possibly damaging Het
Pccb C T 9: 100,869,900 (GRCm39) V307I probably benign Het
Plekhh2 A G 17: 84,874,233 (GRCm39) D506G probably benign Het
Plk4 T C 3: 40,755,481 (GRCm39) V26A probably damaging Het
Ppp2r3c A T 12: 55,344,617 (GRCm39) M117K probably benign Het
Pramel21 A G 4: 143,344,026 (GRCm39) D442G probably benign Het
Pspc1 C T 14: 57,015,529 (GRCm39) E30K probably benign Het
Reps1 A G 10: 17,990,231 (GRCm39) S448G possibly damaging Het
Rnf34 C T 5: 123,004,952 (GRCm39) Q241* probably null Het
Sgta A T 10: 80,883,522 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Siglech A G 7: 55,418,293 (GRCm39) N87S probably damaging Het
Sptbn1 A G 11: 30,094,113 (GRCm39) I392T possibly damaging Het
St18 T A 1: 6,841,174 (GRCm39) M21K probably benign Het
Sugp1 C T 8: 70,522,799 (GRCm39) R500C probably damaging Het
Tbx3 G A 5: 119,813,668 (GRCm39) V235I possibly damaging Het
Toporsl A T 4: 52,611,346 (GRCm39) N413I probably damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Zfp60 A G 7: 27,447,758 (GRCm39) Y142C 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
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'- AGTCCTCAGTGTTGTTCAAAGCAAG -3'
(R):5'- TGTTGCTGGACAGAGATTTAACTTG -3'

Sequencing Primer
(F):5'- CTCAGTGTTGTTCAAAGCAAGAAAAG -3'
(R):5'- GCTGGACAGAGATTTAACTTGTAAAC -3'
Posted On 2017-01-03