Incidental Mutation 'IGL03056:Ust'
ID409226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ust
Ensembl Gene ENSMUSG00000047712
Gene Nameuronyl-2-sulfotransferase
SynonymsUA2OST, D930010O20Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.271) question?
Stock #IGL03056
Quality Score
Status
Chromosome10
Chromosomal Location8204756-8518825 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8207562 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 350 (H350R)
Ref Sequence ENSEMBL: ENSMUSP00000052017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061601]
Predicted Effect probably benign
Transcript: ENSMUST00000061601
AA Change: H350R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000052017
Gene: ENSMUSG00000047712
AA Change: H350R

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 53 317 8.5e-11 PFAM
Pfam:Sulfotransfer_2 98 359 6.4e-38 PFAM
low complexity region 385 398 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219116
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,670,903 H1118R probably damaging Het
Aff1 G A 5: 103,811,081 V339I probably damaging Het
Ank1 G T 8: 23,141,179 V107F probably damaging Het
Aox3 T C 1: 58,159,021 probably null Het
Cd160 T C 3: 96,805,811 T46A probably benign Het
Col20a1 A T 2: 180,994,889 Y221F probably damaging Het
Ddx18 C T 1: 121,564,535 A148T probably benign Het
Dennd5b A G 6: 149,055,072 M307T probably damaging Het
Fam166a T A 2: 25,221,355 M232K possibly damaging Het
Fam216b G A 14: 78,082,783 H86Y probably benign Het
Fh1 A T 1: 175,606,162 C374S probably damaging Het
Fkbp14 A G 6: 54,579,544 V207A probably benign Het
Gucy1a1 T C 3: 82,113,287 K101R probably benign Het
Kcnk2 G T 1: 189,295,711 Q116K possibly damaging Het
Kdm5b C A 1: 134,587,979 Q114K probably damaging Het
Kif12 C T 4: 63,166,956 R516Q probably null Het
Lca5l C T 16: 96,161,351 C463Y probably benign Het
Lgsn T A 1: 31,203,624 Y262* probably null Het
Lig4 A G 8: 9,972,580 I400T possibly damaging Het
Mink1 T A 11: 70,612,583 probably null Het
Mprip T A 11: 59,771,692 I2243N probably damaging Het
Myo1f A T 17: 33,585,600 Y426F probably damaging Het
Naip2 T A 13: 100,162,287 S414C possibly damaging Het
Nrg1 T C 8: 31,821,423 I363V possibly damaging Het
Olfr1278 A T 2: 111,293,172 R301S possibly damaging Het
Olfr582 A T 7: 103,041,751 I86L possibly damaging Het
Serpinb9d T C 13: 33,202,753 V268A probably damaging Het
Slc15a1 A G 14: 121,491,283 F17L possibly damaging Het
Slc9a3 T A 13: 74,150,819 V119E probably damaging Het
Sspo T A 6: 48,470,538 M2346K probably benign Het
Tcf4 G T 18: 69,651,212 probably benign Het
Trabd2b T C 4: 114,409,338 V183A probably damaging Het
Zfp952 T A 17: 33,002,766 V35E probably damaging Het
Other mutations in Ust
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Ust APN 10 8298078 missense probably benign 0.09
R0015:Ust UTSW 10 8330065 splice site probably benign
R0417:Ust UTSW 10 8245936 missense probably damaging 1.00
R0423:Ust UTSW 10 8298148 missense probably damaging 1.00
R0533:Ust UTSW 10 8248080 splice site probably benign
R1344:Ust UTSW 10 8298190 missense possibly damaging 0.82
R1436:Ust UTSW 10 8307438 missense probably damaging 1.00
R1803:Ust UTSW 10 8298055 critical splice donor site probably null
R2059:Ust UTSW 10 8207566 missense probably damaging 1.00
R4248:Ust UTSW 10 8518218 missense possibly damaging 0.67
R4811:Ust UTSW 10 8245941 missense probably damaging 0.97
R5075:Ust UTSW 10 8518224 missense probably damaging 0.97
R5912:Ust UTSW 10 8298061 missense probably benign 0.25
R5950:Ust UTSW 10 8248101 missense probably benign 0.33
R7302:Ust UTSW 10 8518209 missense probably damaging 0.99
R7478:Ust UTSW 10 8390886 critical splice donor site probably null
R7685:Ust UTSW 10 8207575 missense probably damaging 1.00
R7704:Ust UTSW 10 8330223 missense probably benign 0.02
Posted On2016-08-02