Mutagenetix > Incidental Mutation

Incidental Mutation 'R5219:Sult1e1'

402206

Institutional Source

Beutler Lab

Gene Symbol

Sult1e1

Ensembl Gene

ENSMUSG00000029272

Gene Name

sulfotransferase family 1E, member 1

Synonyms

EST, Ste

MMRRC Submission

042792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87723828-87739453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87726445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 223 (I223N)

Ref Sequence

ENSEMBL: ENSMUSP00000031201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031201]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031201
AA Change: I223N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031201
Gene: ENSMUSG00000029272
AA Change: I223N

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	38	288	1.1e-91	PFAM

Meta Mutation Damage Score

0.8413

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (68/70)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700063H04Rik	A	G	6: 122,369,299 (GRCm39)		noncoding transcript	Het
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
A2m	A	G	6: 121,653,909 (GRCm39)	H1414R	possibly damaging	Het
A530064D06Rik	G	T	17: 48,470,518 (GRCm39)	D154E	possibly damaging	Het
Adam34	C	T	8: 44,104,461 (GRCm39)	D395N	probably benign	Het
Agl	A	G	3: 116,572,370 (GRCm39)	V195A	possibly damaging	Het
Aip	T	C	19: 4,165,180 (GRCm39)	I230V	probably benign	Het
Akap10	A	C	11: 61,813,617 (GRCm39)	S43A	probably benign	Het
Ap3d1	T	C	10: 80,545,651 (GRCm39)	E1026G	probably benign	Het
Arid5b	T	A	10: 68,113,940 (GRCm39)	K32N	probably benign	Het
Atp6v0a2	C	A	5: 124,790,249 (GRCm39)	N477K	probably damaging	Het
Atr	A	C	9: 95,763,291 (GRCm39)	I1062L	probably damaging	Het
Ces2h	T	C	8: 105,743,278 (GRCm39)	V171A	probably damaging	Het
Cnot2	A	G	10: 116,342,215 (GRCm39)		probably null	Het
Cpne3	A	T	4: 19,526,366 (GRCm39)	L391H	probably damaging	Het
Ctdp1	A	G	18: 80,490,675 (GRCm39)	L715P	probably damaging	Het
Dcxr	T	C	11: 120,616,314 (GRCm39)		probably benign	Het
Dhtkd1	C	T	2: 5,919,627 (GRCm39)	A585T	probably benign	Het
Elapor2	G	T	5: 9,511,486 (GRCm39)	W949C	probably damaging	Het
Fcgbp	G	A	7: 27,803,510 (GRCm39)	A1705T	probably damaging	Het
Galr1	A	T	18: 82,412,110 (GRCm39)	V252D	probably damaging	Het
Gm11677	A	G	11: 111,616,225 (GRCm39)		noncoding transcript	Het
Gp6	A	G	7: 4,371,998 (GRCm39)	V252A	possibly damaging	Het
Inpp4b	T	C	8: 82,610,785 (GRCm39)	V176A	probably benign	Het
Irx2	G	C	13: 72,779,420 (GRCm39)	A235P	probably damaging	Het
Klk1b11	G	A	7: 43,649,120 (GRCm39)	C219Y	probably damaging	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lars1	A	T	18: 42,367,785 (GRCm39)	V431E	probably benign	Het
Lmntd2	T	C	7: 140,791,387 (GRCm39)		probably null	Het
Ltbp4	A	T	7: 27,026,746 (GRCm39)	W500R	probably benign	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,026,736 (GRCm39)		probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Nadk	A	G	4: 155,668,711 (GRCm39)	I127M	probably benign	Het
Nxph1	T	A	6: 9,247,765 (GRCm39)	Y245*	probably null	Het
Or4a73	C	T	2: 89,421,046 (GRCm39)	V138I	probably benign	Het
Or7s1a-ps1	T	C	9: 18,843,990 (GRCm39)		probably benign	Het
Or8g34	G	T	9: 39,373,563 (GRCm39)	V276L	probably benign	Het
Or9k7	T	A	10: 130,046,793 (GRCm39)	T69S	possibly damaging	Het
Orc1	T	C	4: 108,447,966 (GRCm39)	F71S	probably damaging	Het
Pccb	A	T	9: 100,867,262 (GRCm39)	Y404*	probably null	Het
Pde2a	A	C	7: 101,153,811 (GRCm39)	I460L	probably damaging	Het
Ppp3cb	G	T	14: 20,578,263 (GRCm39)	C162*	probably null	Het
Prickle2	T	C	6: 92,353,511 (GRCm39)	S652G	probably benign	Het
Prss38	A	G	11: 59,266,309 (GRCm39)		probably benign	Het
Rcor3	T	A	1: 191,821,813 (GRCm39)		probably benign	Het
Rgp1	C	T	4: 43,579,440 (GRCm39)	A16V	probably damaging	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Scnn1g	T	A	7: 121,365,489 (GRCm39)	Y514N	probably damaging	Het
Sephs1	A	G	2: 4,896,501 (GRCm39)	D134G	probably benign	Het
Slc38a3	A	G	9: 107,529,111 (GRCm39)		probably benign	Het
Slc6a1	A	T	6: 114,287,182 (GRCm39)	M388L	probably benign	Het
Ssbp3	A	T	4: 106,904,655 (GRCm39)	N350I	probably damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tcf20	C	A	15: 82,740,582 (GRCm39)	G290C	probably damaging	Het
Tekt2	G	T	4: 126,216,057 (GRCm39)	T412K	possibly damaging	Het
Trabd2b	A	G	4: 114,460,007 (GRCm39)	T382A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubr4	C	A	4: 139,204,543 (GRCm39)	Y4818*	probably null	Het
Vmn1r204	A	T	13: 22,741,069 (GRCm39)	R233S	probably damaging	Het
Vmn1r86	A	G	7: 12,836,382 (GRCm39)	Y165H	probably damaging	Het
Yaf2	A	C	15: 93,183,355 (GRCm39)	C152G	probably benign	Het
Zfp804b	A	T	5: 6,820,703 (GRCm39)	F751I	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
IGL03137:Sult1e1	APN	5	87,726,475 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTTAAGTCATGAAAGCTTCG -3'
(R):5'- ACAGCTTCTGAAGTGTCTCC -3'

Sequencing Primer
(F):5'- GCTTCGACCTTTTAAATGGGAAAC -3'
(R):5'- TTGGATGACAAAGGATTGCTTGAG -3'

Posted On

2016-07-22