|Institutional Source||Beutler Lab|
|Gene Name||sulfotransferase family 1E, member 1|
|Is this an essential gene?||Probably non essential (E-score: 0.062)|
|Stock #||R0456 (G1)|
|Chromosomal Location||87575969-87591594 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 87578634 bp|
|Amino Acid Change||Leucine to Proline at position 207 (L207P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031201 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031201]|
|Predicted Effect||possibly damaging
AA Change: L207P
PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: L207P
|Coding Region Coverage||
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||
|Other mutations in Sult1e1||
(F):5'- TTGCTGATGCTGAGACCAAGGTG -3'
(R):5'- AACAGCTTCTGAAGTGTCTCCTGC -3'
(F):5'- GACCAAGGTGTCTGACATTATGC -3'
(R):5'- TTGGATGACAAAGGATTGCTTG -3'