Mutagenetix > Incidental Mutation

Incidental Mutation 'R8890:Sult1e1'

677624

Institutional Source

Beutler Lab

Gene Symbol

Sult1e1

Ensembl Gene

ENSMUSG00000029272

Gene Name

sulfotransferase family 1E, member 1

Synonyms

EST, Ste

MMRRC Submission

068694-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8890 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87723828-87739453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87727719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 188 (V188I)

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: V188I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000031201
Gene: ENSMUSG00000029272
AA Change: V188I

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

Meta Mutation Damage Score

0.2060

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	G	A	X: 69,437,994 (GRCm39)	R100W	possibly damaging	Het
Acrv1	A	T	9: 36,604,608 (GRCm39)	M1L	probably benign	Het
Adam23	G	A	1: 63,624,524 (GRCm39)	G784D	possibly damaging	Het
Astl	A	T	2: 127,198,479 (GRCm39)	M365L	probably benign	Het
C1ql3	T	A	2: 13,015,184 (GRCm39)	T159S		Het
Ccser2	T	G	14: 36,601,352 (GRCm39)	D344A	probably damaging	Het
Cox11	A	C	11: 90,534,599 (GRCm39)	I214L	probably damaging	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Ctsq	T	A	13: 61,185,502 (GRCm39)	Y213F	probably damaging	Het
Cyp2j5	T	A	4: 96,522,555 (GRCm39)	I340F	probably damaging	Het
Efcab6	A	G	15: 83,829,349 (GRCm39)	F664L	probably damaging	Het
Eif3j2	A	G	18: 43,610,276 (GRCm39)	L179P	probably benign	Het
Fhad1	A	T	4: 141,656,902 (GRCm39)	M84K	probably benign	Het
Gabbr1	T	C	17: 37,358,436 (GRCm39)	V58A	probably benign	Het
Gabra1	T	A	11: 42,024,553 (GRCm39)	Y374F	probably benign	Het
Glt28d2	A	T	3: 85,779,359 (GRCm39)	V38D	possibly damaging	Het
Grid2	A	T	6: 63,233,923 (GRCm39)	H28L	probably benign	Het
Hat1	G	A	2: 71,269,137 (GRCm39)	R355K	probably damaging	Het
Hivep3	T	C	4: 119,953,657 (GRCm39)	Y658H	possibly damaging	Het
Hsh2d	T	C	8: 72,951,690 (GRCm39)	F108S	probably damaging	Het
Il17rc	G	T	6: 113,456,031 (GRCm39)	C292F	probably damaging	Het
Il31ra	T	C	13: 112,660,861 (GRCm39)	D576G	possibly damaging	Het
Iqsec3	T	C	6: 121,389,515 (GRCm39)	D652G	probably damaging	Het
Kdm5a	T	A	6: 120,366,624 (GRCm39)	S420R	probably damaging	Het
Klhdc7b	A	G	15: 89,272,888 (GRCm39)	T599A	probably benign	Het
Lrrc8c	A	T	5: 105,754,954 (GRCm39)	E243V	probably damaging	Het
Mecom	A	G	3: 30,006,882 (GRCm39)	S714P	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mipep	G	T	14: 61,109,506 (GRCm39)	A628S	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mterf3	C	T	13: 67,064,676 (GRCm39)		probably null	Het
Myh15	C	A	16: 48,959,130 (GRCm39)	L1001I	probably damaging	Het
Myom3	G	A	4: 135,541,565 (GRCm39)	M1385I	probably benign	Het
Nbea	T	C	3: 55,926,784 (GRCm39)		probably benign	Het
Nphs1	C	T	7: 30,162,080 (GRCm39)	R270W	probably damaging	Het
Nwd1	T	A	8: 73,438,484 (GRCm39)	S1552T	probably benign	Het
Or10ag60	A	T	2: 87,438,412 (GRCm39)	I227F	probably damaging	Het
Or10j5	G	A	1: 172,785,045 (GRCm39)	V228M	probably benign	Het
Or52ae9	G	T	7: 103,389,675 (GRCm39)	F257L	probably damaging	Het
Or52r1	A	T	7: 102,536,699 (GRCm39)	Y220*	probably null	Het
Pcdh7	A	T	5: 57,876,717 (GRCm39)	I91F	probably damaging	Het
Pheta2	G	T	15: 82,227,618 (GRCm39)	V46F	probably damaging	Het
Piezo1	T	C	8: 123,216,330 (GRCm39)	R1394G		Het
Pramel28	G	T	4: 143,691,494 (GRCm39)	Q410K	probably benign	Het
Psmd1	G	A	1: 86,012,914 (GRCm39)	R361Q	probably damaging	Het
Ralb	G	A	1: 119,411,246 (GRCm39)	T31M	probably damaging	Het
Rassf4	T	A	6: 116,617,305 (GRCm39)	K233N	probably damaging	Het
Rif1	T	C	2: 51,988,875 (GRCm39)	F756S	probably damaging	Het
Rpgrip1	G	A	14: 52,382,501 (GRCm39)	D556N	possibly damaging	Het
Scai	T	C	2: 39,040,400 (GRCm39)		probably benign	Het
Scfd1	A	G	12: 51,474,678 (GRCm39)	T478A	probably benign	Het
Spag17	T	A	3: 99,911,994 (GRCm39)	I288N	possibly damaging	Het
Tmco1	A	G	1: 167,143,814 (GRCm39)	R82G		Het
Tmem109	T	C	19: 10,849,235 (GRCm39)	S207G	probably benign	Het
Vmn2r115	A	G	17: 23,578,497 (GRCm39)	T657A	probably damaging	Het
Whamm	A	G	7: 81,243,640 (GRCm39)	T621A	probably benign	Het
Zbtb40	A	G	4: 136,725,897 (GRCm39)	L554P	probably damaging	Het
Zfp131	A	T	13: 120,244,338 (GRCm39)	M114K	probably damaging	Het
Zfp532	C	T	18: 65,757,404 (GRCm39)	P446S	probably damaging	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
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
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'- CAAATACAGTGTACAGTGTGCATCAAG -3'
(R):5'- GCATCATTGCTGCACAGAATTC -3'

Sequencing Primer
(F):5'- CGACTTAATCAAACTAGGATATTGCG -3'
(R):5'- GCTGCACAGAATTCTTAAATAAGTG -3'

Posted On

2021-08-02