Incidental Mutation 'IGL03157:Sult1a1'
ID 411305
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sult1a1
Ensembl Gene ENSMUSG00000030711
Gene Name sulfotransferase family 1A, phenol-preferring, member 1
Synonyms Stp1, PST
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # IGL03157
Quality Score
Status
Chromosome 7
Chromosomal Location 126272037-126275604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126274489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 58 (Y58F)
Ref Sequence ENSEMBL: ENSMUSP00000121514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032956] [ENSMUST00000106371] [ENSMUST00000106372] [ENSMUST00000106373] [ENSMUST00000155419] [ENSMUST00000205507] [ENSMUST00000206359]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032956
SMART Domains Protein: ENSMUSP00000032956
Gene: ENSMUSG00000030714

DomainStartEndE-ValueType
coiled coil region 66 86 N/A INTRINSIC
Pfam:DUF1325 158 288 5.2e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106371
AA Change: Y58F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101979
Gene: ENSMUSG00000030711
AA Change: Y58F

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 256 1.1e-78 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106372
AA Change: Y65F

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101980
Gene: ENSMUSG00000030711
AA Change: Y65F

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 41 263 1.1e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106373
AA Change: Y58F

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000101981
Gene: ENSMUSG00000030711
AA Change: Y58F

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 284 1.1e-89 PFAM
Pfam:Sulfotransfer_3 36 210 2.9e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123382
Predicted Effect probably benign
Transcript: ENSMUST00000129786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138794
Predicted Effect probably damaging
Transcript: ENSMUST00000155419
AA Change: Y58F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121514
Gene: ENSMUSG00000030711
AA Change: Y58F

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 121 6e-23 PFAM
Pfam:Sulfotransfer_1 133 181 1.5e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152231
Predicted Effect probably benign
Transcript: ENSMUST00000205507
Predicted Effect probably benign
Transcript: ENSMUST00000206359
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decrease hepatic DNA adduct formation induced by methyleugenol. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 G A 6: 142,551,649 (GRCm39) probably benign Het
Adam30 A C 3: 98,069,612 (GRCm39) K482Q possibly damaging Het
Aqp4 T C 18: 15,533,037 (GRCm39) R19G probably benign Het
Arhgap32 C T 9: 32,170,430 (GRCm39) P1070L probably damaging Het
Bcat2 T C 7: 45,224,922 (GRCm39) I31T probably benign Het
Csmd2 T A 4: 128,308,092 (GRCm39) C1283* probably null Het
Fasn A G 11: 120,698,735 (GRCm39) I2487T probably benign Het
Gys1 A G 7: 45,089,323 (GRCm39) probably benign Het
Helz A G 11: 107,468,714 (GRCm39) D79G possibly damaging Het
Il16 T C 7: 83,371,611 (GRCm39) D65G probably damaging Het
Iqgap1 C T 7: 80,401,636 (GRCm39) E490K probably benign Het
Kcnv2 A G 19: 27,301,366 (GRCm39) K406E probably damaging Het
Kif26b T A 1: 178,743,930 (GRCm39) L1342H probably damaging Het
Nlrp3 A G 11: 59,440,372 (GRCm39) K650E possibly damaging Het
Opn1sw T A 6: 29,379,803 (GRCm39) N144Y possibly damaging Het
Or2b2b T C 13: 21,859,112 (GRCm39) M1V probably null Het
Or6z1 A G 7: 6,504,892 (GRCm39) L111P probably damaging Het
Or8k30 T C 2: 86,339,367 (GRCm39) L188P possibly damaging Het
Ovol1 T C 19: 5,601,635 (GRCm39) H129R probably benign Het
Pigv T C 4: 133,392,841 (GRCm39) S110G probably benign Het
Pole T A 5: 110,441,619 (GRCm39) F253L probably benign Het
Samd3 T C 10: 26,139,740 (GRCm39) Y291H probably benign Het
Slc4a4 T A 5: 89,304,372 (GRCm39) I605N probably damaging Het
Tfrc T A 16: 32,439,223 (GRCm39) D362E probably benign Het
Thnsl2 T C 6: 71,108,930 (GRCm39) T294A probably benign Het
Tnfsf10 G A 3: 27,380,106 (GRCm39) G57R possibly damaging Het
Vps25 A T 11: 101,147,723 (GRCm39) N73I probably benign Het
Wdfy1 G A 1: 79,684,035 (GRCm39) H367Y probably damaging Het
Zfp568 T C 7: 29,722,189 (GRCm39) L378P probably damaging Het
Other mutations in Sult1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01521:Sult1a1 APN 7 126,274,451 (GRCm39) missense possibly damaging 0.65
R6056:Sult1a1 UTSW 7 126,275,624 (GRCm39) splice site probably null
R6407:Sult1a1 UTSW 7 126,272,356 (GRCm39) splice site probably null
R6529:Sult1a1 UTSW 7 126,274,310 (GRCm39) missense probably benign 0.00
R7237:Sult1a1 UTSW 7 126,272,622 (GRCm39) missense probably benign 0.01
R8255:Sult1a1 UTSW 7 126,274,280 (GRCm39) missense possibly damaging 0.87
R8553:Sult1a1 UTSW 7 126,273,333 (GRCm39) missense probably benign 0.01
R9678:Sult1a1 UTSW 7 126,273,536 (GRCm39) missense probably benign 0.01
X0066:Sult1a1 UTSW 7 126,273,578 (GRCm39) unclassified probably benign
Posted On 2016-08-02