Mutagenetix > Incidental Mutation

Incidental Mutation 'R0415:Sult2b1'

40238

Institutional Source

Beutler Lab

Gene Symbol

Sult2b1

Ensembl Gene

ENSMUSG00000003271

Gene Name

sulfotransferase family, cytosolic, 2B, member 1

Synonyms

SULT2B, Gm5897

MMRRC Submission

038617-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R0415 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

45379405-45409096 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 45379516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075571] [ENSMUST00000094424] [ENSMUST00000129507] [ENSMUST00000209739] [ENSMUST00000210754]

AlphaFold

O35400

Predicted Effect

unknown
Transcript: ENSMUST00000075571
AA Change: S309P

SMART Domains

Protein: ENSMUSP00000075005
Gene: ENSMUSG00000003271
AA Change: S309P

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	57	302	7.8e-84	PFAM
low complexity region	309	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094424

SMART Domains

Protein: ENSMUSP00000091991
Gene: ENSMUSG00000070563

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:UPAR_LY6	23	97	1.7e-7	PFAM
low complexity region	99	123	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000107735
AA Change: S343P

SMART Domains

Protein: ENSMUSP00000103363
Gene: ENSMUSG00000003271
AA Change: S343P

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	91	336	5.2e-84	PFAM
Pfam:Sulfotransfer_3	92	262	5.1e-11	PFAM
low complexity region	343	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129507

SMART Domains

Protein: ENSMUSP00000114397
Gene: ENSMUSG00000054161

Domain	Start	End	E-Value	Type
Pfam:DUF1669	18	293	4.8e-105	PFAM
low complexity region	371	385	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000209739
AA Change: S341P

Predicted Effect

unknown
Transcript: ENSMUST00000210754
AA Change: S343P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211124

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (99/102)

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 sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele lack cholesterol sulfate in the dermis but otherwise appear to have normal lipid metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427G23Rik	A	T	5: 24,036,048 (GRCm39)		noncoding transcript	Het
Acox2	A	G	14: 8,243,835 (GRCm38)		probably benign	Het
Adgb	T	C	10: 10,306,811 (GRCm39)		probably null	Het
Adgra3	C	A	5: 50,119,099 (GRCm39)		probably benign	Het
Adgre4	G	A	17: 56,159,288 (GRCm39)	V658I	probably benign	Het
Ahnak	A	G	19: 8,990,235 (GRCm39)		probably benign	Het
Anapc2	A	G	2: 25,168,337 (GRCm39)	T159A	probably damaging	Het
Arfgef3	A	G	10: 18,488,875 (GRCm39)		probably benign	Het
Atf7ip	C	T	6: 136,537,010 (GRCm39)	S81L	possibly damaging	Het
Cacna1i	A	G	15: 80,253,031 (GRCm39)		probably benign	Het
Camk1	A	T	6: 113,318,852 (GRCm39)	Y20*	probably null	Het
Ccdc40	T	C	11: 119,122,944 (GRCm39)	Y249H	possibly damaging	Het
Cd109	T	A	9: 78,619,897 (GRCm39)	S1380T	probably benign	Het
Cfap57	A	T	4: 118,426,628 (GRCm39)	L1107Q	possibly damaging	Het
Col6a4	C	T	9: 105,952,279 (GRCm39)	V540I	probably damaging	Het
Cst9	T	A	2: 148,680,362 (GRCm39)		probably benign	Het
Cul5	C	T	9: 53,578,370 (GRCm39)	V73I	probably benign	Het
Cxcl16	T	A	11: 70,349,574 (GRCm39)	K84*	probably null	Het
Cyp2c29	T	C	19: 39,317,539 (GRCm39)		probably benign	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dip2c	C	T	13: 9,618,325 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,324,892 (GRCm39)	I513N	probably damaging	Het
Dnajc16	A	T	4: 141,516,359 (GRCm39)	L3*	probably null	Het
Dop1a	T	A	9: 86,388,555 (GRCm39)	L480M	probably damaging	Het
Eml6	A	G	11: 29,699,392 (GRCm39)	V1787A	possibly damaging	Het
Etnk1	A	G	6: 143,126,500 (GRCm39)	N115S	probably damaging	Het
Fryl	T	C	5: 73,255,757 (GRCm39)	Y758C	probably damaging	Het
Gbp4	G	A	5: 105,268,972 (GRCm39)	R394C	possibly damaging	Het
Ggnbp2	A	C	11: 84,724,051 (GRCm39)		probably benign	Het
Gm7137	A	G	10: 77,624,007 (GRCm39)		probably benign	Het
Gstm2	T	A	3: 107,891,322 (GRCm39)	Q132L	probably benign	Het
Habp2	T	C	19: 56,306,149 (GRCm39)		probably benign	Het
Hectd2	T	C	19: 36,562,284 (GRCm39)		probably benign	Het
Htr6	A	G	4: 138,789,392 (GRCm39)	I291T	possibly damaging	Het
Ighg2c	T	C	12: 113,251,530 (GRCm39)	D199G	unknown	Het
Itih2	A	G	2: 10,110,426 (GRCm39)		probably benign	Het
Kcnab2	A	G	4: 152,479,593 (GRCm39)	F248S	probably benign	Het
Kcnc4	T	C	3: 107,352,749 (GRCm39)	K610E	probably damaging	Het
Kcnk16	T	A	14: 20,313,043 (GRCm39)		probably null	Het
Kndc1	C	T	7: 139,510,037 (GRCm39)	T1293I	probably damaging	Het
Lcp1	A	T	14: 75,464,446 (GRCm39)	I556F	possibly damaging	Het
Lrrc8d	T	C	5: 105,959,731 (GRCm39)	L47P	probably damaging	Het
Lyset	T	A	12: 102,711,135 (GRCm39)	Y119*	probably null	Het
Lyst	T	C	13: 13,886,195 (GRCm39)		probably benign	Het
Macrod2	G	A	2: 142,052,065 (GRCm39)		probably null	Het
Mical2	C	T	7: 111,980,235 (GRCm39)	R70C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCT	4: 87,759,576 (GRCm39)		probably benign	Het
Msh3	A	G	13: 92,483,294 (GRCm39)	V283A	possibly damaging	Het
Nup205	T	C	6: 35,191,569 (GRCm39)		probably benign	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or51e2	C	T	7: 102,391,294 (GRCm39)	M305I	probably benign	Het
Or5m10	A	T	2: 85,717,782 (GRCm39)	I213F	possibly damaging	Het
Or5m9	A	T	2: 85,877,399 (GRCm39)	H191L	probably benign	Het
Or8c15	A	T	9: 38,121,269 (GRCm39)	M305L	probably benign	Het
Or8g2	A	G	9: 39,821,279 (GRCm39)	Y60C	probably damaging	Het
Pard3	G	A	8: 128,337,047 (GRCm39)	G1221D	probably damaging	Het
Pax5	G	A	4: 44,691,886 (GRCm39)	A120V	probably damaging	Het
Pcsk6	C	T	7: 65,683,622 (GRCm39)	R746C	probably damaging	Het
Pif1	G	A	9: 65,495,333 (GRCm39)	C81Y	probably benign	Het
Plcb1	A	G	2: 135,179,419 (GRCm39)	Y609C	probably damaging	Het
Plcd4	C	A	1: 74,591,256 (GRCm39)	S217Y	probably damaging	Het
Plxna1	G	A	6: 89,334,318 (GRCm39)	H104Y	probably benign	Het
Polr2k	A	G	15: 36,175,602 (GRCm39)	Y45C	probably damaging	Het
Prex1	A	G	2: 166,428,619 (GRCm39)		probably benign	Het
Pth2r	A	G	1: 65,427,598 (GRCm39)	M424V	probably benign	Het
Pygm	A	G	19: 6,441,396 (GRCm39)	R464G	probably benign	Het
Rad51c	A	G	11: 87,288,481 (GRCm39)	L234P	probably damaging	Het
Rnf145	A	G	11: 44,415,965 (GRCm39)	Y60C	probably damaging	Het
Rnf167	T	C	11: 70,540,525 (GRCm39)	I135T	probably damaging	Het
Rnf213	A	T	11: 119,305,295 (GRCm39)	I509F	probably damaging	Het
Ro60	G	T	1: 143,635,813 (GRCm39)	N444K	probably benign	Het
Ryr2	T	C	13: 11,884,042 (GRCm39)	S213G	probably damaging	Het
Selenbp1	T	C	3: 94,844,224 (GRCm39)	V27A	possibly damaging	Het
Selenof	T	G	3: 144,283,453 (GRCm39)	L14R	probably damaging	Het
Sfswap	A	T	5: 129,581,190 (GRCm39)	D121V	probably damaging	Het
Slc25a34	C	A	4: 141,347,780 (GRCm39)	M300I	possibly damaging	Het
Slc34a3	T	G	2: 25,119,122 (GRCm39)	T583P	probably benign	Het
Slc66a3	C	A	12: 17,047,711 (GRCm39)		probably benign	Het
Smg1	C	A	7: 117,781,691 (GRCm39)	A1199S	probably benign	Het
Spint1	A	G	2: 119,076,096 (GRCm39)	T231A	probably damaging	Het
Sptbn1	A	C	11: 30,099,576 (GRCm39)	N229K	probably damaging	Het
Tas2r123	A	T	6: 132,824,801 (GRCm39)	M233L	probably damaging	Het
Tbcel	C	A	9: 42,355,796 (GRCm39)	C139F	probably benign	Het
Thbs2	A	C	17: 14,900,235 (GRCm39)	S573A	probably benign	Het
Tmem132c	A	G	5: 127,640,769 (GRCm39)	E980G	probably damaging	Het
Tmem247	G	T	17: 87,229,750 (GRCm39)	C197F	probably damaging	Het
Tmem43	C	A	6: 91,459,300 (GRCm39)	P257Q	probably benign	Het
Tmprss13	A	G	9: 45,248,430 (GRCm39)		probably null	Het
Ubr5	T	C	15: 37,973,224 (GRCm39)	T2626A	probably damaging	Het
Vmn1r196	T	A	13: 22,478,006 (GRCm39)	V215D	probably damaging	Het
Vmn1r22	G	T	6: 57,877,317 (GRCm39)	T220K	probably benign	Het
Vmn2r116	G	A	17: 23,606,253 (GRCm39)	M388I	possibly damaging	Het
Vmn2r74	A	C	7: 85,610,618 (GRCm39)	C25G	probably damaging	Het
Xndc1	T	C	7: 101,729,823 (GRCm39)		probably benign	Het
Zfp282	A	G	6: 47,874,815 (GRCm39)	D340G	probably damaging	Het
Zfp282	T	A	6: 47,881,987 (GRCm39)	I558N	possibly damaging	Het
Zfp316	T	A	5: 143,250,246 (GRCm39)	T56S	unknown	Het
Zfp345	A	G	2: 150,316,479 (GRCm39)		probably benign	Het

Other mutations in Sult2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02415:Sult2b1	APN	7	45,391,509 (GRCm39)	missense	possibly damaging	0.86
IGL02964:Sult2b1	APN	7	45,384,698 (GRCm39)	missense	probably benign	0.01
IGL03208:Sult2b1	APN	7	45,383,053 (GRCm39)	missense	probably damaging	1.00
R0392:Sult2b1	UTSW	7	45,383,062 (GRCm39)	missense	probably damaging	1.00
R2247:Sult2b1	UTSW	7	45,384,734 (GRCm39)	missense	probably damaging	1.00
R3851:Sult2b1	UTSW	7	45,379,461 (GRCm39)	unclassified	probably benign
R3935:Sult2b1	UTSW	7	45,391,640 (GRCm39)	missense	probably benign	0.09
R3936:Sult2b1	UTSW	7	45,391,640 (GRCm39)	missense	probably benign	0.09
R4179:Sult2b1	UTSW	7	45,384,735 (GRCm39)	missense	probably damaging	1.00
R4723:Sult2b1	UTSW	7	45,391,489 (GRCm39)	missense	probably damaging	1.00
R5634:Sult2b1	UTSW	7	45,383,506 (GRCm39)	missense	probably damaging	0.99
R5782:Sult2b1	UTSW	7	45,380,770 (GRCm39)	missense	probably damaging	1.00
R6562:Sult2b1	UTSW	7	45,391,670 (GRCm39)	missense	probably benign	0.00
R6816:Sult2b1	UTSW	7	45,383,102 (GRCm39)	missense	probably damaging	1.00
R6921:Sult2b1	UTSW	7	45,384,612 (GRCm39)	missense	probably damaging	1.00
R7145:Sult2b1	UTSW	7	45,383,056 (GRCm39)	missense	probably damaging	1.00
R7250:Sult2b1	UTSW	7	45,433,361 (GRCm39)	missense	unknown
R7392:Sult2b1	UTSW	7	45,391,862 (GRCm39)	start gained	probably benign
R7398:Sult2b1	UTSW	7	45,380,718 (GRCm39)	missense	probably damaging	1.00
R7691:Sult2b1	UTSW	7	45,384,708 (GRCm39)	missense	probably benign	0.01
R7712:Sult2b1	UTSW	7	45,379,620 (GRCm39)	missense	probably benign	0.15
R8239:Sult2b1	UTSW	7	45,433,361 (GRCm39)	missense	unknown
R9159:Sult2b1	UTSW	7	45,391,534 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCATCCTGACTTCAAGCTCAGTG -3'
(R):5'- CTGAGGGGACATCCAACAAGGC -3'

Sequencing Primer
(F):5'- caatcccactgcctccac -3'
(R):5'- TCCAACAAGGCTGAGACG -3'

Posted On

2013-05-23