Incidental Mutation 'IGL01521:Sult1a1'
ID 90521
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 # IGL01521
Quality Score
Status
Chromosome 7
Chromosomal Location 126272037-126275604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 126274451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 71 (V71F)
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 possibly damaging
Transcript: ENSMUST00000106371
AA Change: V71F

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101979
Gene: ENSMUSG00000030711
AA Change: V71F

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 256 1.1e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106372
AA Change: V78F

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101980
Gene: ENSMUSG00000030711
AA Change: V78F

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 41 263 1.1e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106373
AA Change: V71F

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101981
Gene: ENSMUSG00000030711
AA Change: V71F

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 possibly damaging
Transcript: ENSMUST00000155419
AA Change: V71F

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121514
Gene: ENSMUSG00000030711
AA Change: V71F

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A T 8: 111,770,419 (GRCm39) I406F possibly damaging Het
Adgrb2 A G 4: 129,886,085 (GRCm39) E75G probably damaging Het
Angptl2 T C 2: 33,136,215 (GRCm39) Y467H probably damaging Het
Arap1 G T 7: 101,049,812 (GRCm39) probably null Het
Arfgap1 G A 2: 180,613,371 (GRCm39) C22Y probably damaging Het
Artn G A 4: 117,784,484 (GRCm39) P25S probably damaging Het
Bicra G T 7: 15,723,113 (GRCm39) Q135K probably benign Het
Clpx T C 9: 65,226,026 (GRCm39) V367A probably damaging Het
Clstn3 C T 6: 124,434,990 (GRCm39) W308* probably null Het
Cpb2 T A 14: 75,495,071 (GRCm39) V67D probably damaging Het
Cyp2c38 A G 19: 39,449,114 (GRCm39) Y80H probably damaging Het
Dbt A G 3: 116,327,032 (GRCm39) D127G probably benign Het
Elp1 T A 4: 56,771,059 (GRCm39) E961D probably benign Het
Fhod1 G A 8: 106,057,055 (GRCm39) A973V probably benign Het
Flacc1 T G 1: 58,709,553 (GRCm39) K201Q probably damaging Het
Focad A T 4: 88,328,927 (GRCm39) *1713C probably null Het
Gemin5 A T 11: 58,025,744 (GRCm39) probably benign Het
Gpr22 C T 12: 31,758,709 (GRCm39) probably benign Het
Kif23 T A 9: 61,827,182 (GRCm39) T890S probably damaging Het
Kmt5b T A 19: 3,836,618 (GRCm39) S52T possibly damaging Het
Lipo3 A T 19: 33,763,083 (GRCm39) D53E probably damaging Het
Lrrc14b G A 13: 74,511,691 (GRCm39) R130C probably damaging Het
Myt1 T A 2: 181,467,704 (GRCm39) I1046K probably damaging Het
Napsa A T 7: 44,236,061 (GRCm39) I367F probably damaging Het
Or5aq1b C T 2: 86,902,077 (GRCm39) V134I probably benign Het
Or8b56 A T 9: 38,739,185 (GRCm39) Y66F probably damaging Het
Rgcc T G 14: 79,538,185 (GRCm39) S69R probably damaging Het
Rin3 T A 12: 102,335,307 (GRCm39) I326N probably benign Het
Sipa1 C A 19: 5,711,006 (GRCm39) M1I probably null Het
Sirpb1a T A 3: 15,475,561 (GRCm39) M325L probably benign Het
Tgds G T 14: 118,350,506 (GRCm39) P349Q probably damaging Het
Tmem63c T A 12: 87,115,918 (GRCm39) H186Q probably damaging Het
Trappc9 A G 15: 72,924,016 (GRCm39) L242S probably damaging Het
Trip12 T A 1: 84,743,919 (GRCm39) probably benign Het
Zfp451 T C 1: 33,816,412 (GRCm39) probably null Het
Other mutations in Sult1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03157:Sult1a1 APN 7 126,274,489 (GRCm39) missense probably damaging 1.00
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 2013-12-09