Incidental Mutation 'IGL00930:Tpst1'
ID27439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpst1
Ensembl Gene ENSMUSG00000034118
Gene Nameprotein-tyrosine sulfotransferase 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.179) question?
Stock #IGL00930
Quality Score
Status
Chromosome5
Chromosomal Location130073326-130135729 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 130102134 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 148 (K148N)
Ref Sequence ENSEMBL: ENSMUSP00000112571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040721] [ENSMUST00000118993] [ENSMUST00000142838]
Predicted Effect probably benign
Transcript: ENSMUST00000040721
AA Change: K148N

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000035614
Gene: ENSMUSG00000034118
AA Change: K148N

DomainStartEndE-ValueType
Pfam:Sulfotransfer_3 70 260 1.7e-19 PFAM
Pfam:Sulfotransfer_1 70 273 4.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118993
AA Change: K148N

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112571
Gene: ENSMUSG00000034118
AA Change: K148N

DomainStartEndE-ValueType
Pfam:Sulfotransfer_3 70 264 3.6e-17 PFAM
Pfam:Sulfotransfer_1 70 273 4.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142838
SMART Domains Protein: ENSMUSP00000119880
Gene: ENSMUSG00000034118

DomainStartEndE-ValueType
PDB:3AP3|D 62 120 4e-27 PDB
SCOP:d1j99a_ 70 105 4e-9 SMART
Coding Region Coverage
Validation Efficiency
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T C 7: 119,592,310 S534P possibly damaging Het
Adamts15 G A 9: 30,902,053 P939S probably damaging Het
Alms1 T C 6: 85,601,310 S207P probably damaging Het
Chd7 A G 4: 8,805,181 K747E probably damaging Het
Dock5 G T 14: 67,771,077 N1457K probably damaging Het
Donson T C 16: 91,682,591 E323G possibly damaging Het
Epc1 T A 18: 6,449,196 M434L probably benign Het
Fcer1a A G 1: 173,222,533 probably benign Het
Hemgn A T 4: 46,396,383 C284* probably null Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Olfr854 A G 9: 19,567,175 S67P probably damaging Het
Pcdh15 G A 10: 74,630,698 E1450K probably benign Het
Pfpl A T 19: 12,429,645 H420L probably benign Het
Pitpnm2 A G 5: 124,121,663 probably benign Het
Pole2 A G 12: 69,226,445 probably benign Het
Prmt3 T A 7: 49,792,009 Y245N probably damaging Het
Rpl10a T C 17: 28,329,007 Y41H probably damaging Het
Vmn1r199 A G 13: 22,382,859 T108A possibly damaging Het
Wdr7 T A 18: 63,740,244 C525* probably null Het
Zfp646 A G 7: 127,879,130 T160A possibly damaging Het
Other mutations in Tpst1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02193:Tpst1 APN 5 130101896 missense possibly damaging 0.82
IGL03115:Tpst1 APN 5 130101911 missense probably damaging 1.00
R0138:Tpst1 UTSW 5 130101786 missense probably damaging 1.00
R1764:Tpst1 UTSW 5 130114502 missense possibly damaging 0.91
R2104:Tpst1 UTSW 5 130102361 missense probably benign
R4394:Tpst1 UTSW 5 130102502 missense probably benign 0.00
R4611:Tpst1 UTSW 5 130101706 missense probably damaging 0.99
R5164:Tpst1 UTSW 5 130102001 missense probably damaging 1.00
R6454:Tpst1 UTSW 5 130102051 missense possibly damaging 0.58
R6838:Tpst1 UTSW 5 130102438 missense probably benign 0.00
R7107:Tpst1 UTSW 5 130114503 missense probably damaging 0.99
R8208:Tpst1 UTSW 5 130101910 missense probably benign 0.41
Posted On2013-04-17