Incidental Mutation 'R9797:Tasp1'
ID 734977
Institutional Source Beutler Lab
Gene Symbol Tasp1
Ensembl Gene ENSMUSG00000039033
Gene Name taspase, threonine aspartase 1
Synonyms 4930485D02Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R9797 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 139675400-139908725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139838015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 156 (S156P)
Ref Sequence ENSEMBL: ENSMUSP00000039546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046656] [ENSMUST00000099304] [ENSMUST00000110079]
AlphaFold Q8R1G1
Predicted Effect probably benign
Transcript: ENSMUST00000046656
AA Change: S156P

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000039546
Gene: ENSMUSG00000039033
AA Change: S156P

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: S156P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096907
Gene: ENSMUSG00000039033
AA Change: S156P

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: S156P

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105706
Gene: ENSMUSG00000039033
AA Change: S156P

DomainStartEndE-ValueType
Pfam:Asparaginase_2 42 348 1.3e-62 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.8%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b A G 5: 26,054,895 (GRCm39) Y403C probably benign Het
Afdn A G 17: 14,066,562 (GRCm39) I600V probably benign Het
Akr1b8 G A 6: 34,333,278 (GRCm39) E52K possibly damaging Het
Alas1 A G 9: 106,113,842 (GRCm39) S468P probably damaging Het
Atp13a5 T C 16: 29,133,491 (GRCm39) T432A probably benign Het
B3glct A T 5: 149,650,304 (GRCm39) T136S probably benign Het
Bahcc1 A T 11: 120,159,147 (GRCm39) R125* probably null Het
Brat1 A G 5: 140,704,273 (GRCm39) E842G probably damaging Het
Cacna1b A G 2: 24,508,287 (GRCm39) L1830S probably damaging Het
Cd109 A G 9: 78,579,217 (GRCm39) N620D probably benign Het
Cdhr1 T A 14: 36,803,462 (GRCm39) D538V probably damaging Het
Cfap74 G A 4: 155,514,402 (GRCm39) C546Y Het
Colq T A 14: 31,250,777 (GRCm39) R343* probably null Het
Dmxl2 T C 9: 54,358,187 (GRCm39) K330R probably benign Het
Dnah5 A G 15: 28,233,316 (GRCm39) K225R probably benign Het
Dnase1l3 C T 14: 7,984,127 (GRCm38) S95N probably damaging Het
Fyco1 C A 9: 123,626,761 (GRCm39) A1317S probably benign Het
Gm9195 G A 14: 72,687,705 (GRCm39) P1944L probably damaging Het
Gse1 T G 8: 121,215,864 (GRCm39) L4R probably damaging Het
Gstm1 T C 3: 107,925,080 (GRCm39) I4M probably benign Het
Ighv2-3 A T 12: 113,574,945 (GRCm39) I70K possibly damaging Het
Krt71 C T 15: 101,645,069 (GRCm39) R414H probably damaging Het
Mcmbp T C 7: 128,317,696 (GRCm39) E183G possibly damaging Het
Med13l T C 5: 118,880,144 (GRCm39) S1079P probably damaging Het
Megf11 A G 9: 64,545,591 (GRCm39) I125V possibly damaging Het
Mtmr4 T A 11: 87,494,962 (GRCm39) V418E probably damaging Het
Mttp T C 3: 137,814,725 (GRCm39) T517A probably damaging Het
Mx1 A G 16: 97,252,893 (GRCm39) V409A probably benign Het
Olfml1 C A 7: 107,167,069 (GRCm39) H33N probably benign Het
Or13p8 A C 4: 118,584,079 (GRCm39) I212L probably benign Het
Or4k15b A T 14: 50,272,224 (GRCm39) V212D probably benign Het
Or5w19 A T 2: 87,698,478 (GRCm39) I48F possibly damaging Het
Or6k2 T C 1: 173,986,417 (GRCm39) I26T probably benign Het
Or6n1 T A 1: 173,917,356 (GRCm39) I250N possibly damaging Het
Parp12 C A 6: 39,067,185 (GRCm39) V536F probably damaging Het
Phf11a T C 14: 59,514,862 (GRCm39) E273G possibly damaging Het
Pramel27 A G 4: 143,579,818 (GRCm39) T468A possibly damaging Het
Psd3 A G 8: 68,210,778 (GRCm39) Y743H probably damaging Het
Rnf213 T A 11: 119,333,365 (GRCm39) I2859N Het
Sec23a A T 12: 59,052,060 (GRCm39) C88* probably null Het
Sepsecs A G 5: 52,826,239 (GRCm39) probably null Het
Slc35e3 G A 10: 117,572,016 (GRCm39) T293I probably benign Het
Slc49a3 G T 5: 108,593,403 (GRCm39) T145N probably benign Het
Smu1 A G 4: 40,739,538 (GRCm39) I424T possibly damaging Het
Spata16 T A 3: 26,968,925 (GRCm39) I435N probably damaging Het
Tmem237 A C 1: 59,144,735 (GRCm39) S398A probably damaging Het
Ttc39c T A 18: 12,828,542 (GRCm39) L234Q probably damaging Het
Ubxn11 C A 4: 133,851,426 (GRCm39) T22K probably benign Het
Uts2r C A 11: 121,051,518 (GRCm39) S127R probably damaging Het
Vmn1r236 A G 17: 21,506,969 (GRCm39) D29G probably benign Het
Vmn2r87 A G 10: 130,308,138 (GRCm39) I700T probably damaging Het
Vmn2r87 T A 10: 130,312,064 (GRCm39) T517S probably benign Het
Vps13b T A 15: 35,675,022 (GRCm39) V1714E probably damaging Het
Wrn T A 8: 33,758,950 (GRCm39) I1003L probably benign Het
Ylpm1 A G 12: 85,077,109 (GRCm39) D1278G possibly damaging Het
Zfp1006 T A 8: 129,946,534 (GRCm39) H97L probably benign Het
Zfp955a A C 17: 33,461,888 (GRCm39) H81Q possibly damaging Het
Zfyve26 T C 12: 79,293,006 (GRCm39) T2048A probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TTTAGACATTAGGCCTCAGGATAC -3'
(R):5'- ACGTTCAGCCTGTGTTAGC -3'

Sequencing Primer
(F):5'- GCCTCAGGATACATGATAGATTGTG -3'
(R):5'- GTGTTAGCACATTTGGCTAATGAAG -3'
Posted On 2022-11-14