Incidental Mutation 'IGL03083:Sult1e1'
ID 417954
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sult1e1
Ensembl Gene ENSMUSG00000029272
Gene Name sulfotransferase family 1E, member 1
Synonyms EST, Ste
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL03083
Quality Score
Status
Chromosome 5
Chromosomal Location 87723828-87739453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87737983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 33 (M33L)
Ref Sequence ENSEMBL: ENSMUSP00000031201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031201]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031201
AA Change: M33L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031201
Gene: ENSMUSG00000029272
AA Change: M33L

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,932,261 (GRCm39) probably null Het
Acadsb A C 7: 131,042,922 (GRCm39) probably benign Het
Ankk1 A G 9: 49,333,166 (GRCm39) L106P probably benign Het
Ankrd24 G A 10: 81,474,483 (GRCm39) A72T probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Avil A G 10: 126,852,193 (GRCm39) I659M probably benign Het
Ccnc A G 4: 21,742,683 (GRCm39) D170G possibly damaging Het
Cfap57 T C 4: 118,441,936 (GRCm39) K711E probably damaging Het
Dctn1 T C 6: 83,174,466 (GRCm39) probably benign Het
Dpp6 T C 5: 27,914,548 (GRCm39) probably null Het
Efhb A T 17: 53,706,087 (GRCm39) W817R probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fer1l4 A G 2: 155,881,286 (GRCm39) probably benign Het
Fgf8 T C 19: 45,725,667 (GRCm39) N137S probably damaging Het
Fndc3b T C 3: 27,521,576 (GRCm39) D533G probably benign Het
Fshb A G 2: 106,887,812 (GRCm39) V69A probably benign Het
Galnt7 A T 8: 57,979,223 (GRCm39) H633Q probably damaging Het
Gm5458 A G 14: 19,652,451 (GRCm39) probably null Het
Hjv T A 3: 96,435,922 (GRCm39) D393E probably benign Het
Hpca A C 4: 129,012,319 (GRCm39) F72L probably damaging Het
Inpp5d A T 1: 87,638,863 (GRCm39) D552V probably damaging Het
Lepr C T 4: 101,671,876 (GRCm39) Q967* probably null Het
Lgr5 A G 10: 115,288,937 (GRCm39) V497A probably benign Het
Matr3 A G 18: 35,705,471 (GRCm39) K132R probably damaging Het
Mib1 T G 18: 10,752,029 (GRCm39) probably null Het
Mios T A 6: 8,215,156 (GRCm39) N117K probably damaging Het
Nab1 T C 1: 52,529,429 (GRCm39) D156G probably benign Het
Nfxl1 C T 5: 72,698,005 (GRCm39) probably benign Het
Nutm2 G A 13: 50,621,480 (GRCm39) G15E probably damaging Het
Oca2 A G 7: 55,945,232 (GRCm39) H280R probably benign Het
Or10al2 C A 17: 37,983,551 (GRCm39) C212* probably null Het
Or4d1 T C 11: 87,804,914 (GRCm39) I273V probably benign Het
P2ry1 A G 3: 60,911,736 (GRCm39) T292A probably benign Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pidd1 A G 7: 141,020,369 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,271,445 (GRCm39) E376G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2a T C 11: 69,635,872 (GRCm39) probably null Het
Sbno2 A T 10: 79,893,368 (GRCm39) M1311K probably damaging Het
Senp7 A G 16: 55,992,228 (GRCm39) N701S probably benign Het
Sirpa T A 2: 129,471,848 (GRCm39) I211N probably damaging Het
Slc9a4 A G 1: 40,668,562 (GRCm39) E735G probably benign Het
Sorbs1 C T 19: 40,302,820 (GRCm39) M790I probably damaging Het
Tapbpl G A 6: 125,205,191 (GRCm39) probably null Het
Top1 A G 2: 160,545,498 (GRCm39) T289A probably damaging Het
Trim58 T A 11: 58,542,216 (GRCm39) M392K probably benign Het
Uaca A G 9: 60,770,945 (GRCm39) I371V probably benign Het
Vmn1r54 T C 6: 90,246,854 (GRCm39) I256T possibly damaging Het
Wdr19 T C 5: 65,388,319 (GRCm39) I668T probably benign Het
Other mutations in Sult1e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01504:Sult1e1 APN 5 87,724,160 (GRCm39) missense probably damaging 1.00
IGL01588:Sult1e1 APN 5 87,724,102 (GRCm39) missense probably benign 0.01
IGL02685:Sult1e1 APN 5 87,727,765 (GRCm39) nonsense probably null
IGL03137:Sult1e1 APN 5 87,726,475 (GRCm39) missense probably benign 0.00
IGL03217:Sult1e1 APN 5 87,737,947 (GRCm39) missense possibly damaging 0.46
R0069:Sult1e1 UTSW 5 87,727,756 (GRCm39) missense probably damaging 1.00
R0069:Sult1e1 UTSW 5 87,727,756 (GRCm39) missense probably damaging 1.00
R0456:Sult1e1 UTSW 5 87,726,493 (GRCm39) missense possibly damaging 0.86
R1446:Sult1e1 UTSW 5 87,726,396 (GRCm39) missense probably damaging 1.00
R1953:Sult1e1 UTSW 5 87,735,530 (GRCm39) critical splice acceptor site probably null
R2697:Sult1e1 UTSW 5 87,726,397 (GRCm39) missense probably damaging 1.00
R4791:Sult1e1 UTSW 5 87,734,589 (GRCm39) missense possibly damaging 0.61
R4799:Sult1e1 UTSW 5 87,738,027 (GRCm39) missense possibly damaging 0.70
R5103:Sult1e1 UTSW 5 87,724,091 (GRCm39) missense probably benign
R5158:Sult1e1 UTSW 5 87,735,453 (GRCm39) missense probably damaging 1.00
R5219:Sult1e1 UTSW 5 87,726,445 (GRCm39) missense probably damaging 0.98
R6148:Sult1e1 UTSW 5 87,727,770 (GRCm39) missense probably damaging 1.00
R6530:Sult1e1 UTSW 5 87,724,147 (GRCm39) missense probably benign 0.18
R6866:Sult1e1 UTSW 5 87,734,625 (GRCm39) missense probably damaging 1.00
R7295:Sult1e1 UTSW 5 87,726,512 (GRCm39) nonsense probably null
R8812:Sult1e1 UTSW 5 87,735,501 (GRCm39) missense probably benign
R8890:Sult1e1 UTSW 5 87,727,719 (GRCm39) missense probably benign 0.01
R9071:Sult1e1 UTSW 5 87,735,681 (GRCm39) intron probably benign
R9252:Sult1e1 UTSW 5 87,737,973 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02