Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03137:Sult1e1'

410587

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 #

IGL03137

Quality Score

Status

Chromosome

Chromosomal Location

87723828-87739453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87726475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 213 (R213K)

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: R213K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000031201
Gene: ENSMUSG00000029272
AA Change: R213K

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankub1	T	C	3: 57,597,778 (GRCm39)	D64G	probably damaging	Het
Apobec2	C	T	17: 48,730,303 (GRCm39)	W121*	probably null	Het
Arid2	A	G	15: 96,269,199 (GRCm39)	N1104S	probably benign	Het
Bltp1	T	A	3: 37,088,751 (GRCm39)	M569K	probably damaging	Het
Brap	T	C	5: 121,803,156 (GRCm39)		probably benign	Het
Cilp	A	C	9: 65,185,450 (GRCm39)	N515T	probably benign	Het
Cpeb2	T	A	5: 43,419,067 (GRCm39)		probably benign	Het
Creb1	C	T	1: 64,615,374 (GRCm39)	T242I	possibly damaging	Het
Ddx60	T	C	8: 62,441,117 (GRCm39)	V1062A	possibly damaging	Het
Dock8	A	G	19: 25,133,312 (GRCm39)	E1153G	probably benign	Het
Gk5	A	G	9: 96,058,345 (GRCm39)		probably benign	Het
Gm5478	G	T	15: 101,552,817 (GRCm39)	N60K	probably benign	Het
Hmcn2	T	A	2: 31,252,242 (GRCm39)	V904D	probably damaging	Het
Hnmt	T	A	2: 23,938,751 (GRCm39)	H29L	probably damaging	Het
Hsf1	A	G	15: 76,380,649 (GRCm39)		probably benign	Het
Igkv1-122	C	A	6: 67,994,400 (GRCm39)	T96K	probably damaging	Het
Iyd	T	C	10: 3,501,987 (GRCm39)	I211T	probably damaging	Het
Kcnn1	G	T	8: 71,303,381 (GRCm39)	H34N	probably damaging	Het
Krtap5-3	G	T	7: 141,755,946 (GRCm39)		probably benign	Het
Map3k19	C	T	1: 127,752,052 (GRCm39)	R433K	probably benign	Het
Mss51	A	C	14: 20,537,200 (GRCm39)	C89W	probably damaging	Het
Myh9	A	T	15: 77,675,289 (GRCm39)	I276N	probably damaging	Het
Myof	T	C	19: 37,963,337 (GRCm39)	E420G	probably damaging	Het
Nfatc2ip	C	A	7: 125,989,740 (GRCm39)	V215L	possibly damaging	Het
Or10ag52	A	T	2: 87,043,500 (GRCm39)	Y88F	probably benign	Het
Or51m1	T	C	7: 103,578,801 (GRCm39)	M257T	probably benign	Het
Or5d18	G	A	2: 87,864,754 (GRCm39)	A243V	probably benign	Het
Pcdhb4	T	C	18: 37,441,569 (GRCm39)	I293T	probably damaging	Het
Pdcd6ip	A	G	9: 113,486,213 (GRCm39)	S729P	possibly damaging	Het
Pick1	C	A	15: 79,129,501 (GRCm39)	H169N	possibly damaging	Het
Ppp4r4	A	C	12: 103,547,643 (GRCm39)	K212T	probably damaging	Het
Racgap1	A	G	15: 99,526,622 (GRCm39)	S314P	probably damaging	Het
Rasef	C	A	4: 73,652,720 (GRCm39)	E594*	probably null	Het
Ryr3	T	G	2: 112,740,742 (GRCm39)	K522Q	probably benign	Het
Shoc1	G	T	4: 59,094,162 (GRCm39)	F187L	probably benign	Het
Six5	T	C	7: 18,831,072 (GRCm39)		probably benign	Het
Slc26a9	G	T	1: 131,691,615 (GRCm39)	E619D	probably benign	Het
Sqor	A	G	2: 122,649,991 (GRCm39)	I412V	probably benign	Het
Srrt	T	A	5: 137,294,379 (GRCm39)		probably benign	Het
Tmc2	T	A	2: 130,082,050 (GRCm39)	L411H	probably damaging	Het
Tmem63b	T	A	17: 45,975,921 (GRCm39)	N511Y	probably damaging	Het
Ucp3	T	A	7: 100,131,969 (GRCm39)		probably benign	Het
Vmn1r201	A	T	13: 22,658,974 (GRCm39)	I63F	probably benign	Het
Vps13c	G	T	9: 67,797,662 (GRCm39)	L522F	probably damaging	Het
Wwp1	T	A	4: 19,678,408 (GRCm39)	T3S	probably damaging	Het
Zc3hav1	A	G	6: 38,309,329 (GRCm39)	S498P	probably benign	Het

Other mutations in Sult1e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03083:Sult1e1	APN	5	87,737,983 (GRCm39)	missense	probably benign
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