|Institutional Source||Beutler Lab|
|Gene Name||sulfotransferase family 1E, member 1|
|Is this an essential gene?||Probably non essential (E-score: 0.057)|
|Stock #||R0069 (G1)|
|Chromosomal Location||87575969-87591594 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 87579897 bp|
|Amino Acid Change||Histidine to Glutamine at position 175 (H175Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031201 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031201]|
|Predicted Effect||probably damaging
AA Change: H175Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: H175Q
|Meta Mutation Damage Score||0.458|
|Coding Region Coverage||
|Validation Efficiency||96% (52/54)|
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'- AGCTCTGCAACAGGTTGTTGTTAGG -3'
(R):5'- CCTTGTCTCTGTCTCACACAAACAGAA -3'
(F):5'- GGTTTCCAGTGATAATATTGCATCC -3'
(R):5'- cacacacactcacacacac -3'