Incidental Mutation 'IGL03217:Sult1e1'
ID413510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sult1e1
Ensembl Gene ENSMUSG00000029272
Gene Namesulfotransferase family 1E, member 1
SynonymsEST, Ste
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL03217
Quality Score
Status
Chromosome5
Chromosomal Location87575969-87591594 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87590088 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 45 (T45A)
Ref Sequence ENSEMBL: ENSMUSP00000031201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031201]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031201
AA Change: T45A

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031201
Gene: ENSMUSG00000029272
AA Change: T45A

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 38 288 1.1e-91 PFAM
Coding Region Coverage
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. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit reduced fertility. Males exhibit abnormal testis morphology with Leydig cell hypertrophy and hyperplasia and reduced caudal sperm motility. Spontaneous fetal loss caused by placental thrombosis occurs in pregnant females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,349,995 I29T probably damaging Het
Adam2 G A 14: 66,034,813 P640L possibly damaging Het
Ccl4 T C 11: 83,662,678 S6P unknown Het
Cd300lf T A 11: 115,124,291 T151S possibly damaging Het
Elk4 A G 1: 132,018,040 T219A probably benign Het
Eml1 G T 12: 108,534,942 E680D probably benign Het
Gm9755 T C 8: 67,514,383 noncoding transcript Het
Hmcn1 A T 1: 150,743,667 I1232N possibly damaging Het
Maml2 T C 9: 13,619,999 S170P probably damaging Het
Mettl16 T A 11: 74,817,703 M536K probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nxf2 T C X: 134,955,532 I287V probably benign Het
Nyap2 A G 1: 81,087,322 D17G probably damaging Het
Pde6b T C 5: 108,419,566 C270R probably damaging Het
Ptchd1 T C X: 155,573,959 D750G probably damaging Het
Rrn3 G A 16: 13,809,011 E490K possibly damaging Het
Slc27a2 G A 2: 126,586,252 G519D possibly damaging Het
Sox5 A G 6: 143,907,497 S352P probably damaging Het
Spg20 G T 3: 55,128,491 probably benign Het
Tat G A 8: 109,995,186 V242I probably benign Het
Zfp442 A G 2: 150,409,794 probably benign Het
Other mutations in Sult1e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01504:Sult1e1 APN 5 87576301 missense probably damaging 1.00
IGL01588:Sult1e1 APN 5 87576243 missense probably benign 0.01
IGL02685:Sult1e1 APN 5 87579906 nonsense probably null
IGL03083:Sult1e1 APN 5 87590124 missense probably benign
IGL03137:Sult1e1 APN 5 87578616 missense probably benign 0.00
R0069:Sult1e1 UTSW 5 87579897 missense probably damaging 1.00
R0069:Sult1e1 UTSW 5 87579897 missense probably damaging 1.00
R0456:Sult1e1 UTSW 5 87578634 missense possibly damaging 0.86
R1446:Sult1e1 UTSW 5 87578537 missense probably damaging 1.00
R1953:Sult1e1 UTSW 5 87587671 critical splice acceptor site probably null
R2697:Sult1e1 UTSW 5 87578538 missense probably damaging 1.00
R4791:Sult1e1 UTSW 5 87586730 missense possibly damaging 0.61
R4799:Sult1e1 UTSW 5 87590168 missense possibly damaging 0.70
R5103:Sult1e1 UTSW 5 87576232 missense probably benign
R5158:Sult1e1 UTSW 5 87587594 missense probably damaging 1.00
R5219:Sult1e1 UTSW 5 87578586 missense probably damaging 0.98
R6148:Sult1e1 UTSW 5 87579911 missense probably damaging 1.00
R6530:Sult1e1 UTSW 5 87576288 missense probably benign 0.18
R6866:Sult1e1 UTSW 5 87586766 missense probably damaging 1.00
R7295:Sult1e1 UTSW 5 87578653 nonsense probably null
Posted On2016-08-02