Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02964:Sult2b1'

365486

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sult2b1

Ensembl Gene

ENSMUSG00000003271

Gene Name

sulfotransferase family, cytosolic, 2B, member 1

Synonyms

SULT2B, Gm5897

Accession Numbers

Essential gene?

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

Stock #

IGL02964

Quality Score

Status

Chromosome

Chromosomal Location

45379405-45409096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45384698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 126 (E126V)

Ref Sequence

ENSEMBL: ENSMUSP00000148064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075571] [ENSMUST00000209739] [ENSMUST00000210147] [ENSMUST00000210754]

AlphaFold

O35400

Predicted Effect

probably benign
Transcript: ENSMUST00000075571
AA Change: E92V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075005
Gene: ENSMUSG00000003271
AA Change: E92V

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

noncoding transcript
Transcript: ENSMUST00000209435

Predicted Effect

probably benign
Transcript: ENSMUST00000209739
AA Change: E124V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000210147
AA Change: E88V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210754
AA Change: E126V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

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 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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,242,636 (GRCm39)	I1364V	possibly damaging	Het
Adamts19	T	A	18: 59,122,037 (GRCm39)	I813K	probably damaging	Het
Adamtsl1	G	T	4: 86,342,594 (GRCm39)	C1703F	probably damaging	Het
Atp2b4	T	A	1: 133,658,303 (GRCm39)	T536S	probably damaging	Het
Capg	T	A	6: 72,539,827 (GRCm39)	I340N	probably damaging	Het
Casc3	T	A	11: 98,719,749 (GRCm39)	M567K	probably damaging	Het
Chmp1a	T	C	8: 123,934,806 (GRCm39)	E50G	probably damaging	Het
Cryba1	T	C	11: 77,610,207 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,965,735 (GRCm39)	Y2356N	probably damaging	Het
Ercc6	T	G	14: 32,292,060 (GRCm39)	S1141R	probably benign	Het
Exd2	T	A	12: 80,527,302 (GRCm39)	V165D	probably damaging	Het
Fbln1	A	T	15: 85,115,663 (GRCm39)	E233V	probably damaging	Het
Ftsj3	T	C	11: 106,143,163 (GRCm39)	K384E	probably damaging	Het
Ggt5	A	G	10: 75,439,962 (GRCm39)	I188V	probably benign	Het
Gm42742	A	T	7: 126,616,018 (GRCm39)	S26T	probably damaging	Het
Gucy1a2	T	A	9: 3,759,542 (GRCm39)	D449E	probably damaging	Het
Igfbp7	C	T	5: 77,499,188 (GRCm39)	S239N	possibly damaging	Het
Klf11	C	T	12: 24,705,626 (GRCm39)	A360V	probably damaging	Het
Kmt2e	T	A	5: 23,672,098 (GRCm39)		probably benign	Het
Magea8	A	T	X: 153,769,678 (GRCm39)	C144S	probably damaging	Het
Med4	A	G	14: 73,755,361 (GRCm39)	Q223R	probably damaging	Het
Mmd2	G	T	5: 142,555,232 (GRCm39)	F153L	probably damaging	Het
Nav3	C	A	10: 109,572,814 (GRCm39)	R1615L	probably damaging	Het
Nisch	A	G	14: 30,902,769 (GRCm39)		probably benign	Het
Nr1i3	A	T	1: 171,041,964 (GRCm39)	Y16F	probably benign	Het
Or5w1	C	A	2: 87,487,058 (GRCm39)	C69F	probably damaging	Het
Or7e169	G	A	9: 19,757,550 (GRCm39)	R122*	probably null	Het
Or7g16	A	G	9: 18,727,024 (GRCm39)	C189R	probably damaging	Het
Or8g34	A	G	9: 39,373,077 (GRCm39)	T117A	possibly damaging	Het
Ppil6	C	A	10: 41,383,479 (GRCm39)	H252N	probably benign	Het
Ppp6r2	C	T	15: 89,143,378 (GRCm39)	P175L	probably damaging	Het
Psme4	T	A	11: 30,741,095 (GRCm39)	Y90*	probably null	Het
Rbm20	C	A	19: 53,802,133 (GRCm39)	L214I	probably benign	Het
Rhox2f	T	C	X: 36,753,334 (GRCm39)	V24A	probably benign	Het
Scnm1	T	C	3: 95,040,348 (GRCm39)	K96E	probably benign	Het
Sec16a	A	C	2: 26,309,735 (GRCm39)	D2090E	probably benign	Het
Smg6	T	C	11: 74,821,576 (GRCm39)		probably null	Het
Snx2	T	C	18: 53,327,630 (GRCm39)	S119P	probably benign	Het
Stam	A	G	2: 14,120,779 (GRCm39)		probably benign	Het
Tor1aip1	T	C	1: 155,911,590 (GRCm39)	E131G	probably damaging	Het
Ttn	C	T	2: 76,619,040 (GRCm39)	C14367Y	probably damaging	Het
Ubr4	T	C	4: 139,135,131 (GRCm39)	F821S	possibly damaging	Het
Vmn1r32	T	C	6: 66,529,922 (GRCm39)	N285D	probably benign	Het
Vmn2r23	T	C	6: 123,718,741 (GRCm39)	L698P	possibly damaging	Het
Wnt8a	T	A	18: 34,675,474 (GRCm39)	L18Q	possibly damaging	Het
Zfp747	T	C	7: 126,973,666 (GRCm39)	E168G	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
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
R8239:Sult2b1	UTSW	7	45,433,361 (GRCm39)	missense	unknown
R9159:Sult2b1	UTSW	7	45,391,534 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18