Incidental Mutation 'R9194:Tpst1'
ID 697854
Institutional Source Beutler Lab
Gene Symbol Tpst1
Ensembl Gene ENSMUSG00000034118
Gene Name protein-tyrosine sulfotransferase 1
Synonyms Tango13a
MMRRC Submission 068953-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R9194 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 130102167-130164570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130130860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 110 (L110Q)
Ref Sequence ENSEMBL: ENSMUSP00000035614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040721] [ENSMUST00000118993] [ENSMUST00000142838]
AlphaFold O70281
Predicted Effect possibly damaging
Transcript: ENSMUST00000040721
AA Change: L110Q

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035614
Gene: ENSMUSG00000034118
AA Change: L110Q

DomainStartEndE-ValueType
Pfam:Sulfotransfer_3 70 260 1.7e-19 PFAM
Pfam:Sulfotransfer_1 70 273 4.1e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000118993
AA Change: L110Q

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112571
Gene: ENSMUSG00000034118
AA Change: L110Q

DomainStartEndE-ValueType
Pfam:Sulfotransfer_3 70 264 3.6e-17 PFAM
Pfam:Sulfotransfer_1 70 273 4.1e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000142838
AA Change: L110Q

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119880
Gene: ENSMUSG00000034118
AA Change: L110Q

DomainStartEndE-ValueType
PDB:3AP3|D 62 120 4e-27 PDB
SCOP:d1j99a_ 70 105 4e-9 SMART
Meta Mutation Damage Score 0.3906 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (44/47)
MGI Phenotype PHENOTYPE: Homozygous null mice exhibit reduced body weight but develop normally. Homozygous females produce smaller sized litters than control females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,166,371 (GRCm39) M1K probably null Het
Adra1b A T 11: 43,726,263 (GRCm39) V218D probably damaging Het
Ank1 A G 8: 23,606,255 (GRCm39) S1216G possibly damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cfap44 G T 16: 44,288,824 (GRCm39) D1525Y probably damaging Het
Chd8 A T 14: 52,439,650 (GRCm39) M2341K probably benign Het
Chst11 A G 10: 83,027,319 (GRCm39) T249A probably damaging Het
Cttnbp2 A G 6: 18,434,850 (GRCm39) V336A probably benign Het
Dennd3 T C 15: 73,419,153 (GRCm39) L648P probably benign Het
Dhx16 T C 17: 36,200,173 (GRCm39) V864A probably benign Het
Enpp3 G A 10: 24,675,092 (GRCm39) H362Y possibly damaging Het
Ess2 A T 16: 17,728,028 (GRCm39) D79E probably damaging Het
Fam83c T A 2: 155,671,299 (GRCm39) Y712F probably damaging Het
Helz C T 11: 107,561,113 (GRCm39) Q1392* probably null Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Iqch T C 9: 63,479,961 (GRCm39) H143R probably benign Het
Itgb5 A G 16: 33,720,881 (GRCm39) D315G probably damaging Het
Kcnmb2 A G 3: 32,236,174 (GRCm39) K141R probably benign Het
Lrrc37a G A 11: 103,391,676 (GRCm39) P1250S probably benign Het
Mcm5 T G 8: 75,836,962 (GRCm39) V110G probably damaging Het
Med27 G A 2: 29,361,312 (GRCm39) D163N probably damaging Het
Mms22l C A 4: 24,600,185 (GRCm39) Y1129* probably null Het
Mov10l1 G A 15: 88,931,023 (GRCm39) R1081H probably damaging Het
Mtpap C G 18: 4,380,833 (GRCm39) N170K probably benign Het
Mtpap C T 18: 4,380,834 (GRCm39) Q171* probably null Het
Myo6 T A 9: 80,153,836 (GRCm39) F271I unknown Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Nfatc1 C T 18: 80,751,258 (GRCm39) A26T probably benign Het
Or7d11 C A 9: 19,966,543 (GRCm39) C72F probably damaging Het
Piezo2 G C 18: 63,250,815 (GRCm39) T428S probably benign Het
Prkch A G 12: 73,768,616 (GRCm39) E462G probably damaging Het
Rbm20 A G 19: 53,823,131 (GRCm39) Y576C probably damaging Het
Riok3 TTTCATT TTT 18: 12,282,642 (GRCm39) probably null Het
Rpp40 C T 13: 36,080,898 (GRCm39) D302N probably benign Het
Sash1 A G 10: 8,615,969 (GRCm39) V631A probably damaging Het
Sstr2 A G 11: 113,515,203 (GRCm39) T41A probably benign Het
Thsd7b T A 1: 129,843,371 (GRCm39) V861E possibly damaging Het
Tomm70a A G 16: 56,973,070 (GRCm39) K603E possibly damaging Het
Tpd52l2 T A 2: 181,141,683 (GRCm39) M22K possibly damaging Het
Tram1l1 A G 3: 124,115,137 (GRCm39) Y99C possibly damaging Het
Ttc39b A G 4: 83,181,977 (GRCm39) F81L possibly damaging Het
Ubr1 A G 2: 120,778,325 (GRCm39) Y238H probably damaging Het
Vmn1r202 G T 13: 22,686,316 (GRCm39) H34N possibly damaging Het
Vmn1r36 G A 6: 66,693,036 (GRCm39) Q280* probably null Het
Xpnpep1 A T 19: 53,000,289 (GRCm39) V187E possibly damaging Het
Zfp592 A G 7: 80,674,349 (GRCm39) I438V probably benign Het
Other mutations in Tpst1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00930:Tpst1 APN 5 130,130,975 (GRCm39) missense probably benign 0.19
IGL02193:Tpst1 APN 5 130,130,737 (GRCm39) missense possibly damaging 0.82
IGL03115:Tpst1 APN 5 130,130,752 (GRCm39) missense probably damaging 1.00
R0138:Tpst1 UTSW 5 130,130,627 (GRCm39) missense probably damaging 1.00
R1764:Tpst1 UTSW 5 130,143,343 (GRCm39) missense possibly damaging 0.91
R2104:Tpst1 UTSW 5 130,131,202 (GRCm39) missense probably benign
R4394:Tpst1 UTSW 5 130,131,343 (GRCm39) missense probably benign 0.00
R4611:Tpst1 UTSW 5 130,130,547 (GRCm39) missense probably damaging 0.99
R5164:Tpst1 UTSW 5 130,130,842 (GRCm39) missense probably damaging 1.00
R6454:Tpst1 UTSW 5 130,130,892 (GRCm39) missense possibly damaging 0.58
R6838:Tpst1 UTSW 5 130,131,279 (GRCm39) missense probably benign 0.00
R7107:Tpst1 UTSW 5 130,143,344 (GRCm39) missense probably damaging 0.99
R8208:Tpst1 UTSW 5 130,130,751 (GRCm39) missense probably benign 0.41
R9332:Tpst1 UTSW 5 130,163,301 (GRCm39) missense probably benign 0.00
R9642:Tpst1 UTSW 5 130,130,959 (GRCm39) missense probably damaging 0.99
R9796:Tpst1 UTSW 5 130,163,300 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CACCGAATAGAGGAACGTAGCC -3'
(R):5'- GATTTCAGGGCAAACGGATC -3'

Sequencing Primer
(F):5'- AGAACCCCAAGGCGACTGTG -3'
(R):5'- CAGGGCAAACGGATCTTTGTTAC -3'
Posted On 2022-02-07