Incidental Mutation 'IGL01296:Sult1b1'
ID 73123
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sult1b1
Ensembl Gene ENSMUSG00000029269
Gene Name sulfotransferase family 1B, member 1
Synonyms Dopa/tyrosine sulfotransferase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01296
Quality Score
Status
Chromosome 5
Chromosomal Location 87661198-87686054 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87662815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 295 (D295G)
Ref Sequence ENSEMBL: ENSMUSP00000112844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031199] [ENSMUST00000117455] [ENSMUST00000120150]
AlphaFold Q9QWG7
Predicted Effect probably benign
Transcript: ENSMUST00000031199
AA Change: D295G

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031199
Gene: ENSMUSG00000029269
AA Change: D295G

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 38 289 7.5e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117455
AA Change: D295G

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112679
Gene: ENSMUSG00000029269
AA Change: D295G

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 38 289 7.5e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120150
AA Change: D295G

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112844
Gene: ENSMUSG00000029269
AA Change: D295G

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 38 289 7.5e-93 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. However, the total genomic length of this gene is greater than that of other SULT1 genes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A G 1: 66,880,864 (GRCm39) S301P probably damaging Het
Adam34 A G 8: 44,104,178 (GRCm39) V489A possibly damaging Het
Adcy8 G A 15: 64,655,628 (GRCm39) T617I probably damaging Het
Aggf1 T C 13: 95,490,479 (GRCm39) D605G probably damaging Het
Atp10a T A 7: 58,463,373 (GRCm39) F969I probably benign Het
Becn1 A T 11: 101,182,277 (GRCm39) N97K probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Crtac1 A T 19: 42,272,652 (GRCm39) C578S probably damaging Het
Dcp1b A G 6: 119,192,319 (GRCm39) K412E probably damaging Het
Dlg2 T A 7: 91,589,267 (GRCm39) I327N probably damaging Het
Ehf T A 2: 103,098,500 (GRCm39) probably null Het
Elavl4 T C 4: 110,063,809 (GRCm39) N264S probably benign Het
Enpp2 A T 15: 54,739,065 (GRCm39) I406N probably damaging Het
F10 A T 8: 13,105,383 (GRCm39) Y316F possibly damaging Het
Fam20a A G 11: 109,576,177 (GRCm39) I194T possibly damaging Het
Fcgbp T C 7: 27,789,072 (GRCm39) V546A probably benign Het
Fras1 A T 5: 96,821,557 (GRCm39) Q1438L probably null Het
Gm43638 T C 5: 87,608,451 (GRCm39) I463V probably benign Het
H2-T10 T C 17: 36,431,602 (GRCm39) D84G probably benign Het
Itpr1 T C 6: 108,376,322 (GRCm39) F1262L probably damaging Het
Lama1 A G 17: 68,052,046 (GRCm39) N335D probably benign Het
Lasp1 T C 11: 97,727,016 (GRCm39) V246A probably damaging Het
Lrrk2 A T 15: 91,567,345 (GRCm39) I135L probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mctp2 T C 7: 71,878,274 (GRCm39) K268R probably benign Het
Nbea A T 3: 55,938,957 (GRCm39) H710Q probably benign Het
Notch3 G A 17: 32,385,731 (GRCm39) R13C unknown Het
Ogfod1 A T 8: 94,782,299 (GRCm39) probably benign Het
Or1j11 A G 2: 36,311,716 (GRCm39) Y102C probably benign Het
Or5b111 A G 19: 13,291,490 (GRCm39) L53P probably damaging Het
Or8d2 T C 9: 38,759,548 (GRCm39) I46T probably damaging Het
Pgm3 A G 9: 86,443,932 (GRCm39) V324A probably damaging Het
Ppfia2 A T 10: 106,694,068 (GRCm39) I681F probably damaging Het
Prss23 T C 7: 89,159,095 (GRCm39) K325E possibly damaging Het
Psmd7 T A 8: 108,313,249 (GRCm39) probably benign Het
Rfx2 T A 17: 57,115,317 (GRCm39) M1L possibly damaging Het
Rpa1 T C 11: 75,203,141 (GRCm39) Y418C probably damaging Het
Rps6kc1 C T 1: 190,505,875 (GRCm39) R1029H probably damaging Het
Septin10 A G 10: 59,002,422 (GRCm39) V391A probably benign Het
Skint6 A G 4: 113,093,637 (GRCm39) F169L probably benign Het
Slc44a4 C T 17: 35,140,674 (GRCm39) T289I probably benign Het
Spata31e5 T C 1: 28,816,137 (GRCm39) I632V probably benign Het
Srl T C 16: 4,315,546 (GRCm39) D32G probably damaging Het
Stxbp3-ps T A 19: 9,535,256 (GRCm39) noncoding transcript Het
Tmprss7 A G 16: 45,504,937 (GRCm39) V151A probably damaging Het
Trmo A G 4: 46,387,589 (GRCm39) L84P probably damaging Het
Vmn2r98 T A 17: 19,285,447 (GRCm39) I89N probably damaging Het
Zcwpw1 G A 5: 137,795,061 (GRCm39) A86T probably benign Het
Zkscan16 A G 4: 58,956,690 (GRCm39) H324R possibly damaging Het
Other mutations in Sult1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02214:Sult1b1 APN 5 87,682,949 (GRCm39) utr 5 prime probably benign
R0377:Sult1b1 UTSW 5 87,665,235 (GRCm39) missense probably damaging 1.00
R0835:Sult1b1 UTSW 5 87,665,311 (GRCm39) missense probably benign 0.00
R1850:Sult1b1 UTSW 5 87,668,700 (GRCm39) missense probably damaging 1.00
R2059:Sult1b1 UTSW 5 87,682,892 (GRCm39) missense probably damaging 0.98
R4792:Sult1b1 UTSW 5 87,662,906 (GRCm39) missense probably damaging 1.00
R4904:Sult1b1 UTSW 5 87,682,912 (GRCm39) missense probably benign 0.39
R5127:Sult1b1 UTSW 5 87,669,407 (GRCm39) missense probably damaging 1.00
R5282:Sult1b1 UTSW 5 87,678,510 (GRCm39) missense probably benign 0.01
R5981:Sult1b1 UTSW 5 87,682,816 (GRCm39) missense probably damaging 1.00
R6270:Sult1b1 UTSW 5 87,665,413 (GRCm39) splice site probably null
R6442:Sult1b1 UTSW 5 87,682,912 (GRCm39) missense probably benign 0.39
R7681:Sult1b1 UTSW 5 87,678,495 (GRCm39) missense probably damaging 1.00
R8236:Sult1b1 UTSW 5 87,669,383 (GRCm39) missense probably damaging 0.97
R8539:Sult1b1 UTSW 5 87,681,838 (GRCm39) missense possibly damaging 0.93
R8923:Sult1b1 UTSW 5 87,662,893 (GRCm39) missense probably damaging 1.00
R8978:Sult1b1 UTSW 5 87,682,900 (GRCm39) missense possibly damaging 0.80
R9141:Sult1b1 UTSW 5 87,665,280 (GRCm39) missense probably damaging 0.97
R9426:Sult1b1 UTSW 5 87,665,280 (GRCm39) missense probably damaging 0.97
R9776:Sult1b1 UTSW 5 87,662,815 (GRCm39) missense probably benign 0.28
Posted On 2013-10-07