Incidental Mutation 'IGL02415:Sult2b1'
ID292421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sult2b1
Ensembl Gene ENSMUSG00000003271
Gene Namesulfotransferase family, cytosolic, 2B, member 1
SynonymsSULT2B
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.165) question?
Stock #IGL02415
Quality Score
Status
Chromosome7
Chromosomal Location45729983-45784669 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 45742085 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 90 (D90E)
Ref Sequence ENSEMBL: ENSMUSP00000147374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075571] [ENSMUST00000209739] [ENSMUST00000210147] [ENSMUST00000210754]
Predicted Effect probably benign
Transcript: ENSMUST00000075571
AA Change: D58E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075005
Gene: ENSMUSG00000003271
AA Change: D58E

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 57 302 7.8e-84 PFAM
low complexity region 309 337 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209435
Predicted Effect possibly damaging
Transcript: ENSMUST00000209739
AA Change: D90E

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000210147
AA Change: D54E

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000210754
AA Change: D92E

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211176
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. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele lack cholesterol sulfate in the dermis but otherwise appear to have normal lipid metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,947,991 D124G probably benign Het
Adamts13 T A 2: 26,989,283 I616N possibly damaging Het
Adamts3 T C 5: 89,706,647 probably null Het
Amy1 T C 3: 113,563,585 I202V probably benign Het
Bdp1 G A 13: 100,089,408 T322I probably damaging Het
Cep295 A G 9: 15,353,020 L110S probably damaging Het
Cep72 T C 13: 74,050,154 D369G probably benign Het
Chd3 A T 11: 69,348,913 probably benign Het
Ckmt2 G A 13: 91,863,340 probably benign Het
Cyp2s1 T C 7: 25,808,137 T296A probably damaging Het
E2f5 T A 3: 14,603,897 V283E probably benign Het
F5 A G 1: 164,191,929 T658A probably damaging Het
Fam102b A G 3: 108,980,292 Y219H probably damaging Het
Gml A T 15: 74,816,440 Y59* probably null Het
Kmo A T 1: 175,649,323 probably benign Het
Krt25 A T 11: 99,322,572 I107N probably damaging Het
Llgl2 A G 11: 115,853,285 M773V probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Med12 T C X: 101,281,790 V761A probably damaging Het
Mrpl19 T C 6: 81,963,961 T150A probably benign Het
Muc2 G T 7: 141,751,872 E646* probably null Het
Muc20 T A 16: 32,794,681 T109S unknown Het
Nr2f6 T C 8: 71,374,512 T382A probably benign Het
Nrap A G 19: 56,382,309 I172T probably damaging Het
Olfr1434 A G 19: 12,283,498 Y150C probably benign Het
Olfr911-ps1 T C 9: 38,524,112 C127R probably benign Het
P3h1 A T 4: 119,247,955 Q710L probably benign Het
Parvb A G 15: 84,292,815 H185R probably damaging Het
Pkhd1 A G 1: 20,414,421 I1970T probably damaging Het
Pkhd1 T C 1: 20,522,759 Y1710C probably damaging Het
Plxna2 C A 1: 194,643,964 R69S probably damaging Het
Rad51ap2 A G 12: 11,456,929 N284S possibly damaging Het
Reln T A 5: 21,971,951 S1906C possibly damaging Het
Rln1 T C 19: 29,334,398 R67G probably damaging Het
Shcbp1 C T 8: 4,754,239 V224I possibly damaging Het
Slc13a4 A G 6: 35,283,237 probably null Het
Stx6 A G 1: 155,193,313 E195G possibly damaging Het
Taok1 A G 11: 77,540,240 probably benign Het
Tbx15 A T 3: 99,352,510 M566L probably benign Het
Tcaf1 C T 6: 42,686,650 A99T probably benign Het
Tcf20 T A 15: 82,853,459 M1264L probably benign Het
Tenm4 G A 7: 96,874,074 V1571M probably damaging Het
Ttc39a A G 4: 109,431,529 probably benign Het
Ubr1 C A 2: 120,970,603 probably benign Het
Ulk1 T C 5: 110,787,621 D926G probably damaging Het
Vmn2r110 T C 17: 20,583,771 I181V probably benign Het
Vmn2r66 G A 7: 85,006,812 T332I probably damaging Het
Wdr1 C A 5: 38,531,110 D161Y probably damaging Het
Wnt7a T C 6: 91,394,557 Y141C probably damaging Het
Xrra1 G A 7: 99,915,943 E573K probably benign Het
Zfp334 G T 2: 165,381,851 Q91K possibly damaging Het
Other mutations in Sult2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02964:Sult2b1 APN 7 45735274 missense probably benign 0.01
IGL03208:Sult2b1 APN 7 45733629 missense probably damaging 1.00
R0392:Sult2b1 UTSW 7 45733638 missense probably damaging 1.00
R0415:Sult2b1 UTSW 7 45730092 unclassified probably benign
R2247:Sult2b1 UTSW 7 45735310 missense probably damaging 1.00
R3851:Sult2b1 UTSW 7 45730037 unclassified probably benign
R3935:Sult2b1 UTSW 7 45742216 missense probably benign 0.09
R3936:Sult2b1 UTSW 7 45742216 missense probably benign 0.09
R4179:Sult2b1 UTSW 7 45735311 missense probably damaging 1.00
R4723:Sult2b1 UTSW 7 45742065 missense probably damaging 1.00
R5634:Sult2b1 UTSW 7 45734082 missense probably damaging 0.99
R5782:Sult2b1 UTSW 7 45731346 missense probably damaging 1.00
R6562:Sult2b1 UTSW 7 45742246 missense probably benign 0.00
R6816:Sult2b1 UTSW 7 45733678 missense probably damaging 1.00
R6921:Sult2b1 UTSW 7 45735188 missense probably damaging 1.00
R7145:Sult2b1 UTSW 7 45733632 missense probably damaging 1.00
R7250:Sult2b1 UTSW 7 45783937 missense unknown
R7392:Sult2b1 UTSW 7 45742438 start gained probably benign
R7398:Sult2b1 UTSW 7 45731294 missense probably damaging 1.00
R7691:Sult2b1 UTSW 7 45735284 missense probably benign 0.01
R7712:Sult2b1 UTSW 7 45730196 missense probably benign 0.15
R8239:Sult2b1 UTSW 7 45783937 missense unknown
Posted On2015-04-16