Mutagenetix > Incidental Mutation

Incidental Mutation 'R5031:Sult1d1'

391685

Institutional Source

Beutler Lab

Gene Symbol

Sult1d1

Ensembl Gene

ENSMUSG00000029273

Gene Name

sulfotransferase family 1D, member 1

Synonyms

tyrosine-ester sulfotransferase, Sultn, 5033411P13Rik

MMRRC Submission

042622-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87554645-87569027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87559844 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 139 (Y139F)

Ref Sequence

ENSEMBL: ENSMUSP00000108940 (fasta)

Gene Model

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

AlphaFold

Q3UZZ6

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

possibly damaging
Transcript: ENSMUST00000113314
AA Change: Y139F

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108940
Gene: ENSMUSG00000029273
AA Change: Y139F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166996

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 89.9%

Validation Efficiency

100% (52/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,664,514	N136S	probably damaging	Het
Abca13	A	T	11: 9,297,678	N2475I	probably damaging	Het
Acnat2	T	C	4: 49,380,631	K231R	probably damaging	Het
Ank1	C	T	8: 23,099,680	P599L	probably damaging	Het
Arhgef19	A	G	4: 141,250,810	E580G	probably damaging	Het
Atr	A	G	9: 95,865,702	K346E	probably damaging	Het
AU021092	T	C	16: 5,212,604	K309E	probably damaging	Het
Baz2b	T	C	2: 59,912,807	R1607G	probably benign	Het
Cct8	C	T	16: 87,487,538	V254M	probably damaging	Het
Cdca2	T	A	14: 67,713,153	I110F	probably damaging	Het
Csmd3	A	T	15: 47,659,192	C2694S	probably damaging	Het
Dmkn	A	G	7: 30,764,236	I105V	probably benign	Het
Dock1	A	G	7: 135,152,246	D1584G	probably benign	Het
Epg5	G	A	18: 78,028,948	V2392I	probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gsap	G	A	5: 21,242,826	S294N	possibly damaging	Het
Hectd2	A	G	19: 36,599,604	N142D	probably damaging	Het
Hmcn1	A	G	1: 150,588,257	C5091R	probably damaging	Het
Ifitm5	G	A	7: 140,950,104	R36*	probably null	Het
Ints2	G	A	11: 86,256,200	P40L	probably damaging	Het
Irs1	A	T	1: 82,286,967	L1176*	probably null	Het
Klhl29	C	T	12: 5,091,334	R550Q	probably benign	Het
Kyat1	A	G	2: 30,188,090	M134T	probably damaging	Het
Lrrk2	A	T	15: 91,700,619	N384Y	possibly damaging	Het
Magel2	T	C	7: 62,380,104	S919P	unknown	Het
Mettl16	A	T	11: 74,802,999	I279F	probably benign	Het
Mrgpra1	A	T	7: 47,335,237	Y231*	probably null	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mut	T	C	17: 40,938,827	F231S	possibly damaging	Het
Mvp	A	C	7: 126,993,616	Y374*	probably null	Het
Nabp2	G	A	10: 128,409,628		probably benign	Het
Nos1	C	T	5: 117,879,313	P247L	probably benign	Het
Olfr1015	T	A	2: 85,785,718	L69*	probably null	Het
Olfr1115	C	A	2: 87,252,082	F48L	probably benign	Het
Pik3cb	C	T	9: 99,071,408	D441N	probably damaging	Het
Qrich1	C	T	9: 108,541,736	P464S	possibly damaging	Het
Rab17	A	T	1: 90,960,138		probably null	Het
Rspo3	A	T	10: 29,506,447	L77H	probably damaging	Het
Spn	G	T	7: 127,137,230	T35K	probably benign	Het
Tbc1d32	C	A	10: 56,123,531	Q848H	probably damaging	Het
Tcaf3	A	G	6: 42,596,933	V115A	probably benign	Het
Tram1l1	T	A	3: 124,321,644	L151*	probably null	Het
Trappc12	T	A	12: 28,692,513	I682L	possibly damaging	Het
Trav6d-4	A	C	14: 52,753,599	T31P	probably damaging	Het
Trpm8	A	G	1: 88,348,188	T503A	probably benign	Het
Virma	T	A	4: 11,542,116	Y1567*	probably null	Het
Vmn1r228	T	A	17: 20,776,681	K192*	probably null	Het
Zfp521	T	A	18: 13,844,273	T1028S	possibly damaging	Het
Zfp583	T	A	7: 6,317,398	Q205L	probably benign	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
IGL03080:Sult1d1	APN	5	87556988	missense	probably benign	0.16
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
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
R8786:Sult1d1	UTSW	5	87564716	missense	probably benign
R9398:Sult1d1	UTSW	5	87566095	missense	probably benign	0.00
R9519:Sult1d1	UTSW	5	87556862	missense	probably damaging	0.98
R9795:Sult1d1	UTSW	5	87564796	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATTGCCAGAAGCCATTCATAAC -3'
(R):5'- CTTAAAGAGAATGCAGATGTGTCAG -3'

Sequencing Primer
(F):5'- GCCAGAAGCCATTCATAACTTATG -3'
(R):5'- ACATAGTTGTGAATGTACTCTGTTG -3'

Posted On

2016-06-06