Incidental Mutation 'IGL01826:Sult4a1'
ID 154665
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sult4a1
Ensembl Gene ENSMUSG00000018865
Gene Name sulfotransferase family 4A, member 1
Synonyms BR-STL-1, Sultx3, 2400007A17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01826
Quality Score
Status
Chromosome 15
Chromosomal Location 83960298-83989955 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83974247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 141 (S141T)
Ref Sequence ENSEMBL: ENSMUSP00000155695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082365] [ENSMUST00000229826]
AlphaFold P63046
Predicted Effect probably damaging
Transcript: ENSMUST00000082365
AA Change: S141T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080973
Gene: ENSMUSG00000018865
AA Change: S141T

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 45 277 1.1e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000229826
AA Change: S141T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sulfotransferase family. The encoded protein is a brain-specific sulfotransferase believed to be involved in the metabolism of neurotransmitters. Polymorphisms in this gene may be associated with susceptibility to schizophrenia. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T A 7: 45,774,273 (GRCm39) D769V probably benign Het
Afm T A 5: 90,672,787 (GRCm39) probably benign Het
Ago3 A G 4: 126,297,075 (GRCm39) S181P probably damaging Het
Brme1 T C 8: 84,893,301 (GRCm39) V156A probably benign Het
Ccm2l C A 2: 152,909,853 (GRCm39) probably benign Het
Clhc1 A G 11: 29,503,765 (GRCm39) probably null Het
Ear6 A G 14: 52,091,722 (GRCm39) I90V probably benign Het
Fsip2 T G 2: 82,812,983 (GRCm39) S3101A probably benign Het
Gpsm1 C A 2: 26,216,314 (GRCm39) H384N probably damaging Het
Itgal A G 7: 126,901,318 (GRCm39) I235V probably benign Het
Lrp1b C A 2: 41,339,246 (GRCm39) G752C probably damaging Het
Ltbp1 A G 17: 75,599,835 (GRCm39) D659G possibly damaging Het
Odad1 T A 7: 45,597,810 (GRCm39) S573R possibly damaging Het
Plb1 A C 5: 32,438,489 (GRCm39) D208A probably damaging Het
Plce1 T A 19: 38,727,682 (GRCm39) probably benign Het
Stim1 A G 7: 102,076,282 (GRCm39) probably benign Het
Tas2r119 A T 15: 32,177,548 (GRCm39) K38M probably damaging Het
Usp34 G A 11: 23,386,020 (GRCm39) R2149H probably damaging Het
Zfp451 G A 1: 33,821,243 (GRCm39) T203M probably damaging Het
Other mutations in Sult4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Sult4a1 APN 15 83,970,817 (GRCm39) missense possibly damaging 0.93
mum UTSW 15 83,974,159 (GRCm39) critical splice donor site probably null
R0305:Sult4a1 UTSW 15 83,970,868 (GRCm39) missense probably damaging 1.00
R1416:Sult4a1 UTSW 15 83,970,847 (GRCm39) missense probably benign 0.15
R1664:Sult4a1 UTSW 15 83,970,818 (GRCm39) missense probably benign 0.04
R4630:Sult4a1 UTSW 15 83,989,779 (GRCm39) missense possibly damaging 0.81
R5524:Sult4a1 UTSW 15 83,974,159 (GRCm39) critical splice donor site probably null
R6105:Sult4a1 UTSW 15 83,970,821 (GRCm39) nonsense probably null
R7313:Sult4a1 UTSW 15 83,970,814 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04