Mutagenetix > Incidental Mutation

Incidental Mutation 'R8239:Sult2b1'

637503

Institutional Source

Beutler Lab

Gene Symbol

Sult2b1

Ensembl Gene

ENSMUSG00000003271

Gene Name

sulfotransferase family, cytosolic, 2B, member 1

Synonyms

SULT2B, Gm5897

MMRRC Submission

067646-MU

Accession Numbers

Essential gene?

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

Stock #

R8239 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45379405-45409096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45433361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2 (V2A)

Ref Sequence

ENSEMBL: ENSMUSP00000147374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072580] [ENSMUST00000120005] [ENSMUST00000209617] [ENSMUST00000209701] [ENSMUST00000209739] [ENSMUST00000211609]

AlphaFold

O35400

Predicted Effect

probably benign
Transcript: ENSMUST00000072580

SMART Domains

Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
Pfam:Pkinase	133	408	8.3e-37	PFAM
Pfam:Pkinase_Tyr	133	408	4.9e-64	PFAM
low complexity region	415	444	N/A	INTRINSIC
low complexity region	484	506	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC
low complexity region	639	669	N/A	INTRINSIC
low complexity region	735	791	N/A	INTRINSIC
low complexity region	797	843	N/A	INTRINSIC
low complexity region	1081	1105	N/A	INTRINSIC
low complexity region	1116	1132	N/A	INTRINSIC
low complexity region	1196	1223	N/A	INTRINSIC
low complexity region	1225	1263	N/A	INTRINSIC
low complexity region	1345	1362	N/A	INTRINSIC
low complexity region	1384	1393	N/A	INTRINSIC
low complexity region	1407	1421	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120005

SMART Domains

Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
Pfam:Pkinase	133	408	8.3e-37	PFAM
Pfam:Pkinase_Tyr	133	408	4.9e-64	PFAM
low complexity region	415	444	N/A	INTRINSIC
low complexity region	484	506	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC
low complexity region	639	669	N/A	INTRINSIC
low complexity region	735	791	N/A	INTRINSIC
low complexity region	797	843	N/A	INTRINSIC
low complexity region	1081	1105	N/A	INTRINSIC
low complexity region	1116	1132	N/A	INTRINSIC
low complexity region	1196	1223	N/A	INTRINSIC
low complexity region	1225	1263	N/A	INTRINSIC
low complexity region	1345	1362	N/A	INTRINSIC
low complexity region	1384	1393	N/A	INTRINSIC
low complexity region	1407	1421	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209351

Predicted Effect

probably benign
Transcript: ENSMUST00000209617

Predicted Effect

probably benign
Transcript: ENSMUST00000209701

Predicted Effect

unknown
Transcript: ENSMUST00000209739
AA Change: V2A

Predicted Effect

probably benign
Transcript: ENSMUST00000211127

Predicted Effect

probably benign
Transcript: ENSMUST00000211609

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

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 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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 41,278,106 (GRCm39)	S166P	probably damaging	Het
Appl1	T	A	14: 26,686,914 (GRCm39)	T19S	probably damaging	Het
Arid4b	T	A	13: 14,344,594 (GRCm39)	D557E	probably benign	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
C2cd2l	T	C	9: 44,227,502 (GRCm39)	E307G	possibly damaging	Het
Cdh20	A	C	1: 110,027,832 (GRCm39)	T526P	probably benign	Het
Dchs1	C	T	7: 105,414,718 (GRCm39)	V775M	probably benign	Het
Dennd1b	A	G	1: 138,969,673 (GRCm39)	N63S	probably benign	Het
Dtnb	A	T	12: 3,694,056 (GRCm39)	Y248F	unknown	Het
Ehbp1l1	T	A	19: 5,770,089 (GRCm39)	T405S	possibly damaging	Het
Fam149a	A	G	8: 45,803,490 (GRCm39)	Y415H	possibly damaging	Het
Fam186a	A	G	15: 99,839,191 (GRCm39)	L2351P	unknown	Het
Fsip2	T	G	2: 82,819,687 (GRCm39)	I5140S	possibly damaging	Het
Gm8674	T	C	13: 50,054,262 (GRCm39)	T749A	noncoding transcript	Het
Kalrn	A	G	16: 33,870,153 (GRCm39)	V1894A	noncoding transcript	Het
Kpna3	A	T	14: 61,624,919 (GRCm39)	N141K	probably damaging	Het
Lrba	G	A	3: 86,449,882 (GRCm39)	G2067D	probably damaging	Het
Lrp2	G	T	2: 69,311,611 (GRCm39)	Y2622*	probably null	Het
Lrtm2	A	C	6: 119,297,778 (GRCm39)	F88V	probably damaging	Het
Mboat1	T	C	13: 30,429,333 (GRCm39)	S454P	probably damaging	Het
Nkpd1	C	T	7: 19,253,753 (GRCm39)	P40S	probably benign	Het
Or2b7	T	C	13: 21,739,788 (GRCm39)	I135V	probably benign	Het
Or4a76	T	A	2: 89,460,907 (GRCm39)	I112F	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Or8k27	C	A	2: 86,275,473 (GRCm39)	M284I	noncoding transcript	Het
Patj	A	G	4: 98,570,308 (GRCm39)	E1711G	possibly damaging	Het
Pcdha4	A	T	18: 37,086,128 (GRCm39)	I104F	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plekhg4	C	T	8: 106,107,546 (GRCm39)	R990*	probably null	Het
Pphln1	T	C	15: 93,386,930 (GRCm39)	S343P	probably benign	Het
Pram1	A	T	17: 33,860,241 (GRCm39)	K269N	probably damaging	Het
Psmd13	T	A	7: 140,466,450 (GRCm39)	I79K	probably damaging	Het
Ptprf	T	C	4: 118,069,309 (GRCm39)	D1586G	possibly damaging	Het
Ptprh	T	A	7: 4,584,090 (GRCm39)	Q167H	probably damaging	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rreb1	T	C	13: 38,077,848 (GRCm39)	M20T	probably damaging	Het
Scrn2	T	G	11: 96,923,046 (GRCm39)	L163R	probably damaging	Het
Slc36a3	C	T	11: 55,022,433 (GRCm39)	V254I	probably benign	Het
Slc6a6	T	C	6: 91,701,951 (GRCm39)	F120L	probably benign	Het
Slc8a2	A	T	7: 15,879,230 (GRCm39)	H572L	probably benign	Het
Spats2	T	A	15: 99,106,776 (GRCm39)	D357E	probably damaging	Het
Speg	A	T	1: 75,395,677 (GRCm39)	N1816I	probably damaging	Het
Susd3	T	C	13: 49,384,731 (GRCm39)	T231A	probably benign	Het
Tamalin	C	T	15: 101,128,902 (GRCm39)	L217F	probably damaging	Het
Tcp1	A	G	17: 13,139,738 (GRCm39)	D261G	probably benign	Het
Trpm2	C	G	10: 77,771,836 (GRCm39)	S601T	probably benign	Het
Ugt2b38	A	T	5: 87,571,659 (GRCm39)	F124L	probably benign	Het
Unc80	G	T	1: 66,693,178 (GRCm39)	E2522D	probably benign	Het
Usp34	A	G	11: 23,396,750 (GRCm39)	T2365A		Het
Vmn2r92	G	T	17: 18,405,278 (GRCm39)	M807I	probably benign	Het
Vps13b	C	A	15: 35,597,550 (GRCm39)	P1030Q	probably damaging	Het
Wrn	T	G	8: 33,819,213 (GRCm39)	K246N	probably damaging	Het
Zer1	T	A	2: 29,991,147 (GRCm39)		probably null	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
R0415:Sult2b1	UTSW	7	45,379,516 (GRCm39)	unclassified	probably benign
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
R9159:Sult2b1	UTSW	7	45,391,534 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCACTGCAATCCCATTCC -3'
(R):5'- CACATGGGCACAAAAGATGC -3'

Sequencing Primer
(F):5'- ACTGCAATCCCATTCCCTGTAC -3'
(R):5'- CAGGCGTTTCCCAAGATTTACAG -3'

Posted On

2020-07-13