Incidental Mutation 'R5164:Tpst1'
ID 395593
Institutional Source Beutler Lab
Gene Symbol Tpst1
Ensembl Gene ENSMUSG00000034118
Gene Name protein-tyrosine sulfotransferase 1
Synonyms Tango13a
MMRRC Submission 042745-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R5164 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 130102167-130164570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130130842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 104 (I104N)
Ref Sequence ENSEMBL: ENSMUSP00000119880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040721] [ENSMUST00000118993] [ENSMUST00000142838]
AlphaFold O70281
Predicted Effect probably damaging
Transcript: ENSMUST00000040721
AA Change: I104N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035614
Gene: ENSMUSG00000034118
AA Change: I104N

DomainStartEndE-ValueType
Pfam:Sulfotransfer_3 70 260 1.7e-19 PFAM
Pfam:Sulfotransfer_1 70 273 4.1e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118993
AA Change: I104N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112571
Gene: ENSMUSG00000034118
AA Change: I104N

DomainStartEndE-ValueType
Pfam:Sulfotransfer_3 70 264 3.6e-17 PFAM
Pfam:Sulfotransfer_1 70 273 4.1e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142838
AA Change: I104N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119880
Gene: ENSMUSG00000034118
AA Change: I104N

DomainStartEndE-ValueType
PDB:3AP3|D 62 120 4e-27 PDB
SCOP:d1j99a_ 70 105 4e-9 SMART
Meta Mutation Damage Score 0.9347 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (49/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,583,793 (GRCm39) H4637Q probably benign Het
Akap6 A G 12: 53,189,249 (GRCm39) H2221R probably benign Het
Arsj A T 3: 126,231,808 (GRCm39) M185L probably benign Het
Ccdc177 T C 12: 80,805,336 (GRCm39) T313A unknown Het
Cdkal1 A T 13: 29,809,702 (GRCm39) L214H probably damaging Het
Cfap44 T A 16: 44,301,752 (GRCm39) I1830N probably damaging Het
Cfap65 T C 1: 74,965,675 (GRCm39) K445R probably damaging Het
Chrnb3 T A 8: 27,884,160 (GRCm39) I299N probably damaging Het
Cse1l C A 2: 166,786,348 (GRCm39) D826E probably benign Het
Cwf19l2 T C 9: 3,475,511 (GRCm39) V816A probably damaging Het
Dnah5 A T 15: 28,408,438 (GRCm39) E3474D probably benign Het
Dock5 A T 14: 68,055,110 (GRCm39) Y585* probably null Het
Ebf2 T C 14: 67,627,970 (GRCm39) S322P possibly damaging Het
Epha8 T C 4: 136,672,983 (GRCm39) E267G possibly damaging Het
Fkbp5 A G 17: 28,656,964 (GRCm39) probably null Het
Gbp4 T A 5: 105,284,743 (GRCm39) K49* probably null Het
Gramd4 A T 15: 85,985,032 (GRCm39) T98S probably benign Het
Hectd1 C A 12: 51,874,272 (GRCm39) M1I probably null Het
Hsd17b8 A G 17: 34,245,952 (GRCm39) probably benign Het
Hycc2 T C 1: 58,574,597 (GRCm39) T315A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Keg1 A G 19: 12,692,044 (GRCm39) probably benign Het
Lilra6 A T 7: 3,917,880 (GRCm39) V88E probably damaging Het
Mast1 A G 8: 85,640,147 (GRCm39) probably benign Het
Mdn1 A G 4: 32,759,011 (GRCm39) probably null Het
Nrdc C T 4: 108,896,914 (GRCm39) T511I probably damaging Het
Odad4 G A 11: 100,462,346 (GRCm39) W506* probably null Het
Or4c106 T A 2: 88,682,914 (GRCm39) L207I probably benign Het
Or5p6 G A 7: 107,631,487 (GRCm39) T21I possibly damaging Het
Or8k24 T C 2: 86,215,815 (GRCm39) T316A probably benign Het
Pms1 A G 1: 53,246,799 (GRCm39) V301A probably damaging Het
Pnisr A T 4: 21,859,237 (GRCm39) Q144L possibly damaging Het
Pp2d1 G T 17: 53,815,098 (GRCm39) T542K probably benign Het
Ppargc1b A T 18: 61,435,715 (GRCm39) C922S probably damaging Het
Ptprd T C 4: 76,018,995 (GRCm39) probably null Het
Runx3 T C 4: 134,848,441 (GRCm39) S9P possibly damaging Het
Serpina1b A G 12: 103,698,346 (GRCm39) S168P probably benign Het
Slc14a2 G A 18: 78,200,487 (GRCm39) A722V probably damaging Het
Slc23a2 T A 2: 131,917,370 (GRCm39) probably benign Het
Slc47a1 A G 11: 61,243,886 (GRCm39) probably null Het
Tcf20 A G 15: 82,740,804 (GRCm39) S216P probably damaging Het
Ufm1 A C 3: 53,765,348 (GRCm39) probably benign Het
Unkl A G 17: 25,432,083 (GRCm39) probably null Het
Usf3 T C 16: 44,038,543 (GRCm39) S1008P probably damaging Het
Ythdf3 T C 3: 16,237,677 (GRCm39) V6A possibly damaging Het
Zc3h3 A T 15: 75,648,875 (GRCm39) S752R probably benign Het
Zfp268 T C 4: 145,348,775 (GRCm39) Y71H probably damaging 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
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
R9194:Tpst1 UTSW 5 130,130,860 (GRCm39) missense possibly damaging 0.61
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'- GCCATCACCGAATAGAGGAACG -3'
(R):5'- AGGGCAAACGGATCTTTGTTAC -3'

Sequencing Primer
(F):5'- TCACCGAATAGAGGAACGTAGCC -3'
(R):5'- GTTACATAAATAAGGTGCCGGCTCC -3'
Posted On 2016-06-21