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 87513339-87538195 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87514956 bp (GRCm38)
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: 66,841,705 S301P probably damaging Het
Adam34 A G 8: 43,651,141 V489A possibly damaging Het
Adcy8 G A 15: 64,783,779 T617I probably damaging Het
Aggf1 T C 13: 95,353,971 D605G probably damaging Het
Atp10a T A 7: 58,813,625 F969I probably benign Het
Becn1 A T 11: 101,291,451 N97K probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Crtac1 A T 19: 42,284,213 C578S probably damaging Het
Dcp1b A G 6: 119,215,358 K412E probably damaging Het
Dlg2 T A 7: 91,940,059 I327N probably damaging Het
Ehf T A 2: 103,268,155 probably null Het
Elavl4 T C 4: 110,206,612 N264S probably benign Het
Enpp2 A T 15: 54,875,669 I406N probably damaging Het
F10 A T 8: 13,055,383 Y316F possibly damaging Het
Fam20a A G 11: 109,685,351 I194T possibly damaging Het
Fcgbp T C 7: 28,089,647 V546A probably benign Het
Fras1 A T 5: 96,673,698 Q1438L probably null Het
Gm43638 T C 5: 87,460,592 I463V probably benign Het
Gm597 T C 1: 28,777,056 I632V probably benign Het
H2-T10 T C 17: 36,120,710 D84G probably benign Het
Itpr1 T C 6: 108,399,361 F1262L probably damaging Het
Lama1 A G 17: 67,745,051 N335D probably benign Het
Lasp1 T C 11: 97,836,190 V246A probably damaging Het
Lrrk2 A T 15: 91,683,142 I135L probably benign Het
Malrd1 G A 2: 16,101,957 probably null Het
Mctp2 T C 7: 72,228,526 K268R probably benign Het
Nbea A T 3: 56,031,536 H710Q probably benign Het
Notch3 G A 17: 32,166,757 R13C unknown Het
Ogfod1 A T 8: 94,055,671 probably benign Het
Olfr1465 A G 19: 13,314,126 L53P probably damaging Het
Olfr339 A G 2: 36,421,704 Y102C probably benign Het
Olfr924 T C 9: 38,848,252 I46T probably damaging Het
Pgm3 A G 9: 86,561,879 V324A probably damaging Het
Ppfia2 A T 10: 106,858,207 I681F probably damaging Het
Prss23 T C 7: 89,509,887 K325E possibly damaging Het
Psmd7 T A 8: 107,586,617 probably benign Het
Rfx2 T A 17: 56,808,317 M1L possibly damaging Het
Rpa1 T C 11: 75,312,315 Y418C probably damaging Het
Rps6kc1 C T 1: 190,773,678 R1029H probably damaging Het
Sept10 A G 10: 59,166,600 V391A probably benign Het
Skint6 A G 4: 113,236,440 F169L probably benign Het
Slc44a4 C T 17: 34,921,698 T289I probably benign Het
Srl T C 16: 4,497,682 D32G probably damaging Het
Stxbp3-ps T A 19: 9,557,892 noncoding transcript Het
Tmprss7 A G 16: 45,684,574 V151A probably damaging Het
Trmo A G 4: 46,387,589 L84P probably damaging Het
Vmn2r98 T A 17: 19,065,185 I89N probably damaging Het
Zcwpw1 G A 5: 137,796,799 A86T probably benign Het
Zkscan16 A G 4: 58,956,690 H324R possibly damaging Het
Other mutations in Sult1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02214:Sult1b1 APN 5 87535090 utr 5 prime probably benign
R0377:Sult1b1 UTSW 5 87517376 missense probably damaging 1.00
R0835:Sult1b1 UTSW 5 87517452 missense probably benign 0.00
R1850:Sult1b1 UTSW 5 87520841 missense probably damaging 1.00
R2059:Sult1b1 UTSW 5 87535033 missense probably damaging 0.98
R4792:Sult1b1 UTSW 5 87515047 missense probably damaging 1.00
R4904:Sult1b1 UTSW 5 87535053 missense probably benign 0.39
R5127:Sult1b1 UTSW 5 87521548 missense probably damaging 1.00
R5282:Sult1b1 UTSW 5 87530651 missense probably benign 0.01
R5981:Sult1b1 UTSW 5 87534957 missense probably damaging 1.00
R6270:Sult1b1 UTSW 5 87517554 splice site probably null
R6442:Sult1b1 UTSW 5 87535053 missense probably benign 0.39
R7681:Sult1b1 UTSW 5 87530636 missense probably damaging 1.00
R8236:Sult1b1 UTSW 5 87521524 missense probably damaging 0.97
R8539:Sult1b1 UTSW 5 87533979 missense possibly damaging 0.93
R8923:Sult1b1 UTSW 5 87515034 missense probably damaging 1.00
R8978:Sult1b1 UTSW 5 87535041 missense possibly damaging 0.80
R9141:Sult1b1 UTSW 5 87517421 missense probably damaging 0.97
R9426:Sult1b1 UTSW 5 87517421 missense probably damaging 0.97
R9776:Sult1b1 UTSW 5 87514956 missense probably benign 0.28
Posted On 2013-10-07