Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03080:Sult1d1'

417826

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sult1d1

Ensembl Gene

ENSMUSG00000029273

Gene Name

sulfotransferase family 1D, member 1

Synonyms

tyrosine-ester sulfotransferase, Sultn, 5033411P13Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL03080

Quality Score

Status

Chromosome

Chromosomal Location

87554645-87569027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87556988 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 214 (D214G)

Ref Sequence

ENSEMBL: ENSMUSP00000108940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113314]

PDB Structure

Crystal structure of mouse sulfotransferase SULT1D1 complex with PAP [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAP and p-nitrophenol [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAP and alpha-naphthol [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAPS [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAPS and p-nitrophenyl sulfate [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAPS/PAP and p-nitrophenol [X-RAY DIFFRACTION]
crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAP and p-nitrophenol, obtained by two-step soaking method [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000113314
AA Change: D214G

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108940
Gene: ENSMUSG00000029273
AA Change: D214G

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	38	288	6e-95	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166996

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased benzylic DNA adduct formation in the liver and kidney but increased formation in the colon. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,283,982	D428G	probably damaging	Het
Abce1	T	C	8: 79,703,001		probably null	Het
Adgrf3	T	C	5: 30,196,829	M734V	probably benign	Het
Aqp8	T	G	7: 123,466,579		probably benign	Het
Ces1d	C	A	8: 93,169,718		probably null	Het
Cntn4	A	G	6: 106,655,539	D508G	probably damaging	Het
Cyp11b1	A	T	15: 74,839,436		probably null	Het
Dnah8	A	G	17: 30,719,006	D1619G	probably benign	Het
Ephb4	T	A	5: 137,354,083		probably benign	Het
Ffar3	A	T	7: 30,855,322	V191E	probably damaging	Het
Galnt1	T	A	18: 24,269,517	D310E	probably damaging	Het
Gm2075	A	T	12: 88,011,845		probably benign	Het
Igf2r	T	C	17: 12,726,676	Y342C	probably benign	Het
Jade1	T	A	3: 41,600,075	C251*	probably null	Het
Jhy	T	C	9: 40,944,357	E278G	probably damaging	Het
Kif24	A	C	4: 41,394,417	S819A	probably benign	Het
Lrp8	T	C	4: 107,855,799	L344P	probably damaging	Het
Lrrc27	A	G	7: 139,230,237	T375A	probably benign	Het
Mbd3	C	T	10: 80,393,251	R204Q	probably damaging	Het
Nab2	T	C	10: 127,664,794	N143S	possibly damaging	Het
Nkiras2	T	C	11: 100,624,279		probably null	Het
Olfr868	A	T	9: 20,101,409	I217F	probably damaging	Het
Palm	C	A	10: 79,819,117	H74Q	probably damaging	Het
Pros1	T	A	16: 62,918,143	N408K	probably damaging	Het
Psg23	T	A	7: 18,606,985	Y448F	probably damaging	Het
Ranbp2	C	A	10: 58,476,791	P1111Q	probably benign	Het
Rims2	A	G	15: 39,535,903	S1115G	probably damaging	Het
Scn7a	T	C	2: 66,697,816	T777A	probably benign	Het
Stard3nl	A	T	13: 19,370,478		probably null	Het
Tmprss12	T	C	15: 100,292,648	W300R	probably damaging	Het
Tmprss2	T	C	16: 97,596,844	Y44C	probably damaging	Het
Ttk	A	G	9: 83,843,083	N154D	probably damaging	Het
Tyw1	T	C	5: 130,267,055	Y108H	probably damaging	Het
Vmn2r44	C	A	7: 8,383,245		probably benign	Het
Zcchc11	T	A	4: 108,505,824	S444R	probably damaging	Het
Zfand1	A	G	3: 10,340,737	*269Q	probably null	Het
Zfp142	A	T	1: 74,571,209	D1039E	probably benign	Het
Zkscan5	G	T	5: 145,218,650	S377I	probably damaging	Het

Other mutations in Sult1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02306:Sult1d1	APN	5	87556055	splice site	probably benign
IGL02566:Sult1d1	APN	5	87564811	missense	probably damaging	0.98
IGL03113:Sult1d1	APN	5	87559879	nonsense	probably null
R0269:Sult1d1	UTSW	5	87564802	missense	probably damaging	1.00
R1473:Sult1d1	UTSW	5	87564739	missense	probably benign	0.13
R2105:Sult1d1	UTSW	5	87559802	missense	probably damaging	1.00
R2273:Sult1d1	UTSW	5	87556028	missense	probably damaging	1.00
R2919:Sult1d1	UTSW	5	87559755	splice site	probably benign
R4416:Sult1d1	UTSW	5	87558576	missense	probably damaging	1.00
R4648:Sult1d1	UTSW	5	87566095	missense	probably benign	0.00
R5031:Sult1d1	UTSW	5	87559844	missense	possibly damaging	0.77
R5108:Sult1d1	UTSW	5	87563869	critical splice donor site	probably null
R5905:Sult1d1	UTSW	5	87559826	missense	probably damaging	1.00
R5934:Sult1d1	UTSW	5	87559770	frame shift	probably null
R6028:Sult1d1	UTSW	5	87559826	missense	probably damaging	1.00

Posted On

2016-08-02