Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03083:Sult1e1'

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

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL03083

Quality Score

Status

Chromosome

Chromosomal Location

87575969-87591594 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87590124 bp

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]

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2016-08-02