Incidental Mutation 'R8923:Sult1b1'
ID 679387
Institutional Source Beutler Lab
Gene Symbol Sult1b1
Ensembl Gene ENSMUSG00000029269
Gene Name sulfotransferase family 1B, member 1
Synonyms Dopa/tyrosine sulfotransferase
MMRRC Submission 068768-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8923 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 87661198-87686054 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 87662893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 269 (F269C)
Ref Sequence ENSEMBL: ENSMUSP00000031199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031199] [ENSMUST00000117455] [ENSMUST00000120150]
AlphaFold Q9QWG7
Predicted Effect probably damaging
Transcript: ENSMUST00000031199
AA Change: F269C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031199
Gene: ENSMUSG00000029269
AA Change: F269C

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 38 289 7.5e-93 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117455
AA Change: F269C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112679
Gene: ENSMUSG00000029269
AA Change: F269C

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 38 289 7.5e-93 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120150
AA Change: F269C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112844
Gene: ENSMUSG00000029269
AA Change: F269C

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 38 289 7.5e-93 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (53/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 A G 7: 144,204,288 (GRCm39) Y308H possibly damaging Het
Ano6 T C 15: 95,811,428 (GRCm39) I176T probably damaging Het
Ap3b2 T C 7: 81,126,931 (GRCm39) E273G probably benign Het
Arid1a A G 4: 133,412,304 (GRCm39) I1245T unknown Het
Ash1l T C 3: 88,892,974 (GRCm39) S1618P possibly damaging Het
Atp5f1e G T 2: 174,304,309 (GRCm39) S49* probably null Het
Bsdc1 C T 4: 129,355,405 (GRCm39) probably benign Het
Ccni T C 5: 93,335,943 (GRCm39) H152R probably damaging Het
Cdk5 A G 5: 24,625,284 (GRCm39) V208A possibly damaging Het
Cmtm5 G A 14: 55,176,345 (GRCm39) D137N probably damaging Het
Cyp3a41b A G 5: 145,521,448 (GRCm39) M1T probably null Het
Cyp3a44 A T 5: 145,736,171 (GRCm39) V93E probably damaging Het
Dhrs2 A T 14: 55,478,309 (GRCm39) I241F probably benign Het
Dip2c A G 13: 9,673,901 (GRCm39) T1114A probably damaging Het
Dsel T C 1: 111,788,284 (GRCm39) I750M possibly damaging Het
Dync2h1 T C 9: 7,168,515 (GRCm39) K398E probably benign Het
Efcab12 G C 6: 115,787,982 (GRCm39) T660S possibly damaging Het
Ep400 A G 5: 110,831,864 (GRCm39) L2126P unknown Het
Ercc1 T A 7: 19,081,062 (GRCm39) probably benign Het
Flnc G T 6: 29,452,236 (GRCm39) D1687Y probably damaging Het
Frrs1 A T 3: 116,696,070 (GRCm39) I530F possibly damaging Het
Gp5 G T 16: 30,128,222 (GRCm39) L151I probably damaging Het
H2-Q5 A G 17: 35,613,982 (GRCm39) D177G Het
Itgal A T 7: 126,895,533 (GRCm39) probably benign Het
Klhl33 A T 14: 51,129,882 (GRCm39) C277* probably null Het
Lefty1 T A 1: 180,765,318 (GRCm39) C295* probably null Het
Lmo7 A T 14: 102,137,679 (GRCm39) T794S probably benign Het
Mss51 A G 14: 20,537,177 (GRCm39) M97T possibly damaging Het
Mtmr11 C T 3: 96,072,188 (GRCm39) P262S probably damaging Het
Muc15 A T 2: 110,562,212 (GRCm39) N216I probably damaging Het
Muc16 A T 9: 18,549,972 (GRCm39) D5440E probably benign Het
Myt1l A G 12: 29,960,800 (GRCm39) K1038E unknown Het
Naa15 G A 3: 51,367,443 (GRCm39) V539M probably damaging Het
Or10al2 A T 17: 37,983,702 (GRCm39) I263F probably benign Het
Or1e26 T C 11: 73,480,076 (GRCm39) I163V probably benign Het
Or5ac20 G C 16: 59,104,399 (GRCm39) L154V probably benign Het
Parpbp C T 10: 87,947,474 (GRCm39) V387I probably benign Het
Pbxip1 T C 3: 89,352,921 (GRCm39) I189T possibly damaging Het
Prkci T A 3: 31,095,250 (GRCm39) Y111* probably null Het
Prkd2 C G 7: 16,599,682 (GRCm39) T715R probably damaging Het
Rab40c A C 17: 26,102,664 (GRCm39) S262A probably benign Het
Rad51d A G 11: 82,773,798 (GRCm39) L164P probably damaging Het
Rgs22 T A 15: 36,093,106 (GRCm39) K513I probably damaging Het
Rubcn G T 16: 32,646,049 (GRCm39) T828K probably damaging Het
Sdha G A 13: 74,487,179 (GRCm39) T203M probably damaging Het
Sesn3 T C 9: 14,217,562 (GRCm39) probably null Het
Spag8 T A 4: 43,651,471 (GRCm39) T468S probably damaging Het
Spdl1 T C 11: 34,704,478 (GRCm39) K452E possibly damaging Het
Stat5a T C 11: 100,771,308 (GRCm39) F597S Het
Ubap1 A G 4: 41,379,170 (GRCm39) N128S probably benign Het
Utp20 G A 10: 88,627,604 (GRCm39) Q954* probably null Het
Vmn1r173 T A 7: 23,401,768 (GRCm39) M1K probably null Het
Wdfy1 A G 1: 79,684,017 (GRCm39) S373P 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
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
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'- ATTTGGAAGATTACCTGCTGGG -3'
(R):5'- ACATGACCCAGGACAGTGAG -3'

Sequencing Primer
(F):5'- ACCTGCTGGGGAATGTGTAG -3'
(R):5'- CAATCAGATACCTAAATGTATGTGCC -3'
Posted On 2021-08-02