Incidental Mutation 'IGL03083:Sult1e1'
ID417954
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: 0.057) question?
Stock #IGL03083
Quality Score
Status
Chromosome5
Chromosomal Location87575969-87591594 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87590124 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 33 (M33L)
Ref Sequence ENSEMBL: ENSMUSP00000031201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031201]
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: 122,138,612 probably null Het
Acadsb A C 7: 131,441,193 probably benign Het
Ankk1 A G 9: 49,421,866 L106P probably benign Het
Ankrd24 G A 10: 81,638,649 A72T probably benign Het
Ankrd35 A T 3: 96,684,801 Q801L probably damaging Het
Avil A G 10: 127,016,324 I659M probably benign Het
Ccnc A G 4: 21,742,683 D170G possibly damaging Het
Cfap57 T C 4: 118,584,739 K711E probably damaging Het
Dctn1 T C 6: 83,197,484 probably benign Het
Dpp6 T C 5: 27,709,550 probably null Het
Efhb A T 17: 53,399,059 W817R probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Fer1l4 A G 2: 156,039,366 probably benign Het
Fgf8 T C 19: 45,737,228 N137S probably damaging Het
Fndc3b T C 3: 27,467,427 D533G probably benign Het
Fshb A G 2: 107,057,467 V69A probably benign Het
Galnt7 A T 8: 57,526,189 H633Q probably damaging Het
Gm5458 A G 14: 19,602,383 probably null Het
Hfe2 T A 3: 96,528,606 D393E probably benign Het
Hpca A C 4: 129,118,526 F72L probably damaging Het
Inpp5d A T 1: 87,711,141 D552V probably damaging Het
Lepr C T 4: 101,814,679 Q967* probably null Het
Lgr5 A G 10: 115,453,032 V497A probably benign Het
Matr3 A G 18: 35,572,418 K132R probably damaging Het
Mib1 T G 18: 10,752,029 probably null Het
Mios T A 6: 8,215,156 N117K probably damaging Het
Nab1 T C 1: 52,490,270 D156G probably benign Het
Nfxl1 C T 5: 72,540,662 probably benign Het
Nutm2 G A 13: 50,467,444 G15E probably damaging Het
Oca2 A G 7: 56,295,484 H280R probably benign Het
Olfr118 C A 17: 37,672,660 C212* probably null Het
Olfr464 T C 11: 87,914,088 I273V probably benign Het
P2ry1 A G 3: 61,004,315 T292A probably benign Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Pidd1 A G 7: 141,440,456 probably null Het
Pitpnm2 T C 5: 124,133,382 E376G possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polr2a T C 11: 69,745,046 probably null Het
Sbno2 A T 10: 80,057,534 M1311K probably damaging Het
Senp7 A G 16: 56,171,865 N701S probably benign Het
Sirpa T A 2: 129,629,928 I211N probably damaging Het
Slc9a4 A G 1: 40,629,402 E735G probably benign Het
Sorbs1 C T 19: 40,314,376 M790I probably damaging Het
Tapbpl G A 6: 125,228,228 probably null Het
Top1 A G 2: 160,703,578 T289A probably damaging Het
Trim58 T A 11: 58,651,390 M392K probably benign Het
Uaca A G 9: 60,863,663 I371V probably benign Het
Vmn1r54 T C 6: 90,269,872 I256T possibly damaging Het
Wdr19 T C 5: 65,230,976 I668T 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
IGL03137:Sult1e1 APN 5 87578616 missense probably benign 0.00
IGL03217:Sult1e1 APN 5 87590088 missense possibly damaging 0.46
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