Incidental Mutation 'R4179:Sult2b1'
ID 319628
Institutional Source Beutler Lab
Gene Symbol Sult2b1
Ensembl Gene ENSMUSG00000003271
Gene Name sulfotransferase family, cytosolic, 2B, member 1
Synonyms SULT2B, Gm5897
MMRRC Submission 041015-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R4179 (G1)
Quality Score 222
Status Not validated
Chromosome 7
Chromosomal Location 45379405-45409096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45384735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 114 (I114F)
Ref Sequence ENSEMBL: ENSMUSP00000148064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075571] [ENSMUST00000209739] [ENSMUST00000210147] [ENSMUST00000210754]
AlphaFold O35400
Predicted Effect probably damaging
Transcript: ENSMUST00000075571
AA Change: I80F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075005
Gene: ENSMUSG00000003271
AA Change: I80F

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 57 302 7.8e-84 PFAM
low complexity region 309 337 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107735
AA Change: I114F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103363
Gene: ENSMUSG00000003271
AA Change: I114F

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 91 336 5.2e-84 PFAM
Pfam:Sulfotransfer_3 92 262 5.1e-11 PFAM
low complexity region 343 371 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123250
AA Change: I98F
Predicted Effect probably damaging
Transcript: ENSMUST00000140127
AA Change: I76F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121262
Gene: ENSMUSG00000003271
AA Change: I76F

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 53 130 2.9e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209435
Predicted Effect probably damaging
Transcript: ENSMUST00000209739
AA Change: I112F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210147
AA Change: I76F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210754
AA Change: I114F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,104,128 (GRCm39) M506V probably benign Het
Ano1 A T 7: 144,204,242 (GRCm39) M290K probably damaging Het
Arrdc2 A T 8: 71,289,821 (GRCm39) L34Q probably damaging Het
Cdadc1 G T 14: 59,829,935 (GRCm39) T77N probably benign Het
Cmtr2 C G 8: 110,947,669 (GRCm39) probably null Het
Cnot2 A T 10: 116,334,048 (GRCm39) V374E possibly damaging Het
Crnn T C 3: 93,054,120 (GRCm39) M1T probably null Het
Ctsb A G 14: 63,370,901 (GRCm39) N38D probably benign Het
Dock10 A C 1: 80,488,134 (GRCm39) S2010A probably benign Het
Dqx1 A G 6: 83,036,460 (GRCm39) T155A probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Eci1 T C 17: 24,655,251 (GRCm39) W119R probably damaging Het
Foxo1 C A 3: 52,252,840 (GRCm39) D334E probably benign Het
Gck T C 11: 5,860,295 (GRCm39) T116A probably benign Het
Gcn1 T C 5: 115,726,109 (GRCm39) V588A probably benign Het
Gm7168 A G 17: 14,169,265 (GRCm39) I211V probably benign Het
Idh3g A T X: 72,825,610 (GRCm39) probably null Het
Jag1 A G 2: 136,943,578 (GRCm39) F206S probably damaging Het
Loxl3 G A 6: 83,014,565 (GRCm39) V158I probably benign Het
Ly6g A G 15: 75,027,567 (GRCm39) probably null Het
Myo1b A G 1: 51,817,685 (GRCm39) F532L probably damaging Het
Naip1 T A 13: 100,562,684 (GRCm39) N827I probably damaging Het
Nlrp9c G A 7: 26,084,086 (GRCm39) H498Y possibly damaging Het
Or10d1b A G 9: 39,613,387 (GRCm39) I226T probably benign Het
Pak2 C G 16: 31,871,005 (GRCm39) G59A probably benign Het
Pcdha2 T A 18: 37,074,529 (GRCm39) L720Q probably damaging Het
Pcdhb9 T A 18: 37,534,168 (GRCm39) M54K probably benign Het
Pde2a A G 7: 101,130,590 (GRCm39) *71W probably null Het
Pkd2l1 T C 19: 44,180,620 (GRCm39) N32D probably benign Het
Pkhd1l1 A C 15: 44,387,045 (GRCm39) Y1306S probably benign Het
Plec T C 15: 76,064,415 (GRCm39) K1953R possibly damaging Het
Plekhg4 T A 8: 106,108,030 (GRCm39) V1029E possibly damaging Het
Prkd1 C A 12: 50,413,231 (GRCm39) G647C probably damaging Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Qser1 A G 2: 104,606,729 (GRCm39) I1510T probably benign Het
Ranbp3l T C 15: 9,057,279 (GRCm39) I314T possibly damaging Het
Rgs9 C A 11: 109,172,274 (GRCm39) probably null Het
Riok1 T C 13: 38,232,931 (GRCm39) F216L probably damaging Het
Rrm1 T A 7: 102,106,405 (GRCm39) I308N probably damaging Het
Serpina1f A T 12: 103,658,179 (GRCm39) M242K probably benign Het
Smox G A 2: 131,366,770 (GRCm39) M576I possibly damaging Het
Spaca7 A T 8: 12,636,435 (GRCm39) N87I probably damaging Het
Spink5 A T 18: 44,120,934 (GRCm39) Q296L probably benign Het
Sspo T C 6: 48,475,329 (GRCm39) probably null Het
Tex12 T C 9: 50,470,587 (GRCm39) probably null Het
Tonsl A G 15: 76,508,675 (GRCm39) L26P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tsen54 T C 11: 115,711,678 (GRCm39) V365A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Usp47 T C 7: 111,687,091 (GRCm39) L683P probably damaging Het
Wdr18 T C 10: 79,800,875 (GRCm39) L146P probably damaging Het
Zfp709 A G 8: 72,643,750 (GRCm39) Y392C probably damaging Het
Zranb3 A T 1: 127,888,601 (GRCm39) I828N possibly damaging Het
Other mutations in Sult2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02415:Sult2b1 APN 7 45,391,509 (GRCm39) missense possibly damaging 0.86
IGL02964:Sult2b1 APN 7 45,384,698 (GRCm39) missense probably benign 0.01
IGL03208:Sult2b1 APN 7 45,383,053 (GRCm39) missense probably damaging 1.00
R0392:Sult2b1 UTSW 7 45,383,062 (GRCm39) missense probably damaging 1.00
R0415:Sult2b1 UTSW 7 45,379,516 (GRCm39) unclassified probably benign
R2247:Sult2b1 UTSW 7 45,384,734 (GRCm39) missense probably damaging 1.00
R3851:Sult2b1 UTSW 7 45,379,461 (GRCm39) unclassified probably benign
R3935:Sult2b1 UTSW 7 45,391,640 (GRCm39) missense probably benign 0.09
R3936:Sult2b1 UTSW 7 45,391,640 (GRCm39) missense probably benign 0.09
R4723:Sult2b1 UTSW 7 45,391,489 (GRCm39) missense probably damaging 1.00
R5634:Sult2b1 UTSW 7 45,383,506 (GRCm39) missense probably damaging 0.99
R5782:Sult2b1 UTSW 7 45,380,770 (GRCm39) missense probably damaging 1.00
R6562:Sult2b1 UTSW 7 45,391,670 (GRCm39) missense probably benign 0.00
R6816:Sult2b1 UTSW 7 45,383,102 (GRCm39) missense probably damaging 1.00
R6921:Sult2b1 UTSW 7 45,384,612 (GRCm39) missense probably damaging 1.00
R7145:Sult2b1 UTSW 7 45,383,056 (GRCm39) missense probably damaging 1.00
R7250:Sult2b1 UTSW 7 45,433,361 (GRCm39) missense unknown
R7392:Sult2b1 UTSW 7 45,391,862 (GRCm39) start gained probably benign
R7398:Sult2b1 UTSW 7 45,380,718 (GRCm39) missense probably damaging 1.00
R7691:Sult2b1 UTSW 7 45,384,708 (GRCm39) missense probably benign 0.01
R7712:Sult2b1 UTSW 7 45,379,620 (GRCm39) missense probably benign 0.15
R8239:Sult2b1 UTSW 7 45,433,361 (GRCm39) missense unknown
R9159:Sult2b1 UTSW 7 45,391,534 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGCCGCATGTCAATCAATC -3'
(R):5'- GCTTTCCTATGGCTCCAAGC -3'

Sequencing Primer
(F):5'- CTCACCTTAGCCTTGGAGCTGAAG -3'
(R):5'- CACAGTGCTGACTTGGGAACTATG -3'
Posted On 2015-06-10