Incidental Mutation 'R5282:Sult1b1'
ID 402813
Institutional Source Beutler Lab
Gene Symbol Sult1b1
Ensembl Gene ENSMUSG00000029269
Gene Name sulfotransferase family 1B, member 1
Synonyms Dopa/tyrosine sulfotransferase
MMRRC Submission 042867-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5282 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 87661198-87686054 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87678510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 105 (I105V)
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: I105V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000031199
Gene: ENSMUSG00000029269
AA Change: I105V

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 38 289 7.5e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117455
AA Change: I105V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000112679
Gene: ENSMUSG00000029269
AA Change: I105V

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 38 289 7.5e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120150
AA Change: I105V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000112844
Gene: ENSMUSG00000029269
AA Change: I105V

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 38 289 7.5e-93 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik T A 9: 108,270,439 (GRCm39) M1K probably null Het
2810021J22Rik T C 11: 58,771,166 (GRCm39) L216S possibly damaging Het
4933405O20Rik G A 7: 50,249,220 (GRCm39) E85K possibly damaging Het
Agrn A G 4: 156,257,492 (GRCm39) F1153L probably damaging Het
Cbx8 A G 11: 118,929,742 (GRCm39) S284P probably damaging Het
Cep128 A G 12: 91,305,893 (GRCm39) L170P probably damaging Het
Cyp4f14 T A 17: 33,126,959 (GRCm39) T324S probably damaging Het
Daw1 G T 1: 83,170,419 (GRCm39) V244L probably benign Het
Eef2kmt A G 16: 5,063,222 (GRCm39) V306A probably benign Het
Enah A T 1: 181,763,293 (GRCm39) probably null Het
Fam171b T C 2: 83,683,949 (GRCm39) probably null Het
Fsip2 C T 2: 82,808,925 (GRCm39) T1748I possibly damaging Het
Gabrg2 C T 11: 41,862,559 (GRCm39) G175D probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hmcn1 G T 1: 150,458,047 (GRCm39) N33K probably damaging Het
Incenp T A 19: 9,855,770 (GRCm39) E514V unknown Het
Kank3 T C 17: 34,036,917 (GRCm39) S74P probably benign Het
Lrriq1 G T 10: 103,051,206 (GRCm39) N515K probably benign Het
Mfsd13b G A 7: 120,591,056 (GRCm39) D266N probably damaging Het
Neto1 T C 18: 86,422,998 (GRCm39) Y152H probably damaging Het
Nub1 C A 5: 24,900,533 (GRCm39) F145L probably benign Het
Nufip1 T C 14: 76,351,715 (GRCm39) probably null Het
Pard6g T A 18: 80,123,116 (GRCm39) V50E probably benign Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Rapgef5 A C 12: 117,703,379 (GRCm39) N431T probably damaging Het
Rassf9 A T 10: 102,381,205 (GRCm39) T196S probably damaging Het
Rrp12 T C 19: 41,865,029 (GRCm39) Y764C probably benign Het
Slfn8 T C 11: 82,908,550 (GRCm39) probably null Het
Smox T A 2: 131,363,026 (GRCm39) V265D probably damaging Het
Sycp2 T C 2: 178,045,554 (GRCm39) D22G probably damaging Het
Tbck G A 3: 132,456,977 (GRCm39) M630I possibly damaging Het
Tenm4 G C 7: 96,486,538 (GRCm39) G965R possibly damaging Het
Trappc10 G A 10: 78,023,694 (GRCm39) T1258I probably damaging Het
Tssk1 G A 16: 17,713,123 (GRCm39) G303S probably benign Het
Tstd2 T C 4: 46,120,461 (GRCm39) Y313C probably damaging Het
Usp42 G A 5: 143,707,401 (GRCm39) T260M probably damaging Het
Wdr43 T A 17: 71,955,772 (GRCm39) V479E probably damaging Het
Xpo7 G A 14: 70,921,171 (GRCm39) T599I probably damaging Het
Zfp553 A G 7: 126,836,013 (GRCm39) K523E probably benign Het
Other mutations in Sult1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Sult1b1 APN 5 87,662,815 (GRCm39) missense probably benign 0.28
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
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
Predicted Primers PCR Primer
(F):5'- AAGCACCTTCTAGTGTAGGTCAG -3'
(R):5'- GGCTTAGAGGACAATGAGATAACTC -3'

Sequencing Primer
(F):5'- GGTCAGTTCTCCGTATTACAAAGC -3'
(R):5'- TCCCACAAGAGTGCTGTGACAG -3'
Posted On 2016-07-22